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108 Cards in this Set

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mental retardation, cardiac (AV canal), duodenal
atresia, simian creases, epicanthal folds.
 Symptoms
Newborn hypotonia, simian creases (50%), flat occiput, upslanting
palpebral fissures, 40% with cardiac anomalies (ventricular septal
defect [VSD], atrioventricular [AV] canal), duodenal atresia
(4–7%), small stature, ocular problems, thyroid disease, chronic oti-
tis media/hearing problems, atlantoaxial instability (12%), male
sterility, obesity, leukemia (1%), premature senescence, life span typically to fourth or fifth decade
Down Syndrome (Trisomy 21)
 Description
Most common autosomal chromosome abnormality with a characteristic appearance. A common cause of mental retardation (1/700 live births).
Trisomy 21: Down syndrome; 1/700 births
 Diagnosis
Clinical with chromosome confirmation: classic trisomy 95% (spo-
radic), 4% translocation, 1% mosaic (see Fig. 14–1).
 Treatment Steps
1. Prenatal considerations––identification of increased risk profile:
advanced maternal age, first-trimester serum α-fetoprotein
(AFP), human chorionic gonadotropin (hCG), estriols.
2. Definitive prenatal diagnosis—amniocentesis, chorionic villus
sampling if indicated.
3. Neonatal echocardiogram.
4. Genetic counseling (especially translocations).
5. Family support groups—optimal potential in home setting/spe-
cial education
IUGR, clenched hands, rocker-bottom feet, cardiac (VSD, PDA).
 Symptoms
Intrauterine growth retardation (IUGR), micrognathia, clenched
hand, overlapping fingers, rocker-bottom feet, congenital heart dis-
ease (VSD, patent ductus arteriosus [PDA]), mental retardation, central nervous system (CNS) malformation.
Trisomy 18: poor prognosis; 1/5,000 births
Trisomy 18 (Edwards’ Syndrome)
 Description
Second most frequent autosomal disorder (1/5,000) with severe
malformations
 Diagnosis
Clinical with chromosome confirmation. Translocations rare.
 Treatment Steps
1. Aggressive treatment usually not indicated; 50% die by 1 week,
5–10% survive 1 year.
2. Grief and genetic counseling.
3. Recurrence < 1% if no translocation
cleft lip/palate, CNS malformations
(holoprosencephaly), renal and ocular malformations.
 Symptoms
Cleft lip and/or palate (60–80%), CNS malformation (holoprosen-
cephaly), microcephaly, urinary tract malformations, ocular malfor-
mations, polydactyly
Trisomy 13: poor prognosis;1/10,000 births;
Trisomy 13 (Patau’s Syndrome)
 Description
Third most common autosomal disorder (1/10,000) with severe
malformations
 Diagnosis
Clinical with chromosome confirmation.
 Treatment Steps
1. Aggressive treatment usually not indicated; 80% die by 1 month,
5% survive 6 months.
2. Grief and genetic counseling.
3. Recurrence < 1% if no translocation.
cat-like cry, mental retardation, microcephaly.
 Symptoms
Mental retardation, microcephaly, congenital heart disease
5p Syndrome (Cri du Chat Syndrome)
 Description
Chromosome deletion syndrome named for the characteristic cat-
like cry.
 Diagnosis
Clinical, chromosome confirmation; 15% parental translocation.
 Treatment Steps
1. Supportive environment, special schooling.
2. Family and genetic counseling.
3. May function at 5- to 6-year-old level.
short webbed neck, horseshoe kidney,
coarctation of aorta, primary amenorrhea.
 Symptoms
Most are spontaneously aborted in early pregnancy (95%). Transient
lymphedema feet and hands at birth (80–90%), short webbed neck,
short fourth metacarpal, renal anomalies (horseshoe kidney), car-
diac defects (coarctation of aorta), short stature, lack of secondary
sex characteristics with primary amenorrhea (due to gonadal dysgenesis), normal intelligence.
Gonadal Dysgenesis 45,XO
(Turner’s Syndrome)
 Description
Most common female sex chromosome disorder in which there is only one X chromosome (1/2,500 newborn girls)
 Diagnosis
Clinical with chromosome confirmation (60% chromatin negative
45,XO, 40% mosaic).
 Treatment Steps
1. Identify any associated anomalies.
2. Family and genetic counseling.
3. Estrogen replacement at puberty.
4. Consider growth hormone therapy.
seminiferous tubule dysgenesis, hypogonadism,
tall stature, gynecomastia, infertility.
 Symptoms
Hypogonadism (number one cause in males), infertility, gynecomas-
tia, tall stature, behavior problems. Mean intelligence quotient (IQ)
80–90 with great variability
Seminiferous Tubule Dysgenesis 47,XXY
(Klinefelter’s Syndrome)
 Description
Male sex chromosome abnormality with extra X chromosome
(1/1,000 newborn boys).
 Diagnosis
Chromosomes.
 Treatment Steps
1. Testosterone replacement at 12 years old, if indicated.
2. School support in reading, spelling.
 Symptoms
Prominent ears, long face, macro-orchidism, mental retardation,
seizures, hyperactivity.
Fragile X Syndrome
 Description
Abnormality of X chromosome and common cause of mental retardation in males (1/1,000); can also affect females.
 Diagnosis
Chromosomes with fragile X study.
 Treatment Steps
1. Family and genetic counseling.
2. Special education.
 Symptoms/Diagnosis
Short limbs (especially proximally), low nasal bridge, large head and
forehead, small foramen magnum, kyphosis, hydrocephalus, severe
otitis media (see Fig. 14–2). Usually normal intelligence and life span. Clinical diagnosis.
Achondroplasia
 Description
The most common genetic skeletal dysplasia (1/15,000), with char-
acteristic features. Autosomal dominant, 90% new mutations in gene for fibroblast growth factor receptor 3.
 Treatment Steps
1. Family and genetic counseling.
2. Follow closely for hydrocephalus.
3. Careful head support—spinal cord injury risk due to small foru-
men magnum.
4. Treat spine complications.
 Features
Sunlight sensitivity (from first exposure), skin atrophy, basal and
squamous cell carcinomas, melanomas, conjunctivitis leading to scarring and blindness. Seizures, developmental delay
Xeroderma Pigmentosa
 Description
Defect in deoxyribonucleic acid (DNA) repair mechanism of ultravi-
olet radiation–induced lesions, causing skin scarring and malignancy
(1/250,000 individuals).
 Diagnosis
Autosomal recessive. Clinical diagnosis plus characteristic biopsy.
May be fatal before adulthood due to malignancies. Seventy percent
survival to age 40.
 Treatment Steps
1. Strict avoidance of sun exposure.
2. Close dermatologic and neurologic monitoring.
MATERNAL SERUM α-FETOPROTEIN (MSAFP)
ELEVATED
differential
Neural tube defect
Intrauterine fetal demise
Multiple gestation
Omphalocele defect
Normal pregnancy
MATERNAL SERUM α-FETOPROTEIN (MSAFP)
DECREASED
differential
Chromosomal anomaly
(Trisomy 21, 13, 18; Turner syndrome)
Missed abortion
Hydatidiform mole
Normal pregnancy
 Symptoms
Intrauterine growth retardation, mental retardation (mean IQ 63), microcephaly, flattened philtrum, thin upper lip, upturned nose, cardiac defects (septal). Early failure to thrive, hyperactivity.
Fetal Alcohol Effects/Syndrome
 Description
Results from fetal exposure through maternal alcohol use. Fetal al-
cohol exposure is the most common teratogen and a leading cause
of mental retardation
 Diagnosis
Clinical.
 Treatment Steps
1. Counseling and prenatal care.
2. Most damaging in first trimester but alcohol use during pregnancy is never safe.
3. Special education programs
Considered a common cause of intrauterine growth retardation.
Tobacco
CNS damage, low birth
weight, urinary tract abnormalities in newborns. Placental abruption. Also, dependence in the neonate
Cocaine
Maternal use during pregnancy can cause CNS damage, low birth
weight, urinary tract abnormalities in newborns. Placental abrup-
tion. Also, dependence in the neonate.
typical facial features, auditory and ocular defects, CNS malformations, mental retardation, perinatal hemorrhage
Coumadin Derivatives
Fetal warfarin syndrome
phocomelia (absence of long bones in extremities). Recently approved
in the United States to treat leprosy.
Thalidomide
A popular antiemetic for pregnant women in the 1960s
congenital heart
defects, nail hypoplasia, growth retardation, mental retardation.
Fetal Hydantoin Syndrome
Maternal use of this antiseizure medication causes
tooth enamel hy-
poplasia and staining.
Tetracycline
Maternal use in second and third trimester
congenital heart
defects, sacral agenesis, anencephaly, small left colon, and caudal regression syndrome.
Maternal Diabetes (Infant
of Diabetic Mother)
Increases risk of congenital anomalies threefold
infant with increased risk for
mental retardation, microcephaly, heart defects.
Maternal Phenylketonuria
If mother not controlled with diet
snuffles, palm and sole rash, anemia, hepatosplenomegaly,
periostitis, peg teeth, saddle nose;
 Symptoms
Early—(Only 40% of infected newborns are symptomatic at birth)
rash (palms and soles), snuffles (blood-tinged nasal discharge),
hepatosplenomegaly, jaundice, pseudoparalysis of Parrot (perios-
titis), anemia, often asymptomatic early.
Late—Frontal bossing, saber shins, Hutchinson (peg) teeth, sad-
dle nose.
Congenital Syphilis
 Description
Congenital infection caused by spirochete (Treponema pallidum) w/ multiorgan involvement and variable severity, usually transmitted in later pregnancy.
Rx penicillin.
 Diagnosis
Serology (rapid plasma reagin [RPR], fluorescent treponemal anti-
body absorption [FTA-ABS]), dark-field examination. Cerebrospinal
fluid (CSF), Veneral Disease Research Laboratory (VDRL).
 Treatment Steps
1. Screen all pregnant women for syphilis.
2. Treat all mothers/infants with positive maternal serology without
documented adequate treatment with IV penicillin (Jarisch–Herxheimer reaction common).
 Symptoms
Majority (93%) are asymptomatic at birth. Hepatosplenomegaly,
jaundice, chorioretinitis, deafness, microcephaly, petechial rash, developmental delay, periventricular CNS calcifications.
Congenital Cytomegalovirus Infection
 Description
A herpesvirus, the most common cause of congenital infection in
the United States. Most severe if transmitted in early pregnancy.
Ubiquitous virus. Transmitted during both primary and secondary
maternal infection.
 Diagnosis
Urine isolation, serology.
 Treatment Steps
1. Antiviral therapy for congenital cytomegalovirus (CMV) is not
proven.
2. Symptomatic treatment.
hydrocephalus,
chorioretinitis, scattered CNS calcifications;
 Symptoms
Hydrocephalus, chorioretinitis (99%), microcephaly, scattered CNS
calcifications, developmental delay.
Toxoplasmosis: Toxoplasma gondii; oocysts from cat litter and meat;
Congenital Toxoplasmosis Infection
 Description
Intracellular protozoan parasite (Toxoplasma gondii), which can affect fetus in all trimesters (usually the third).
Rx pyrimethamine
 Diagnosis
Serology, parasites in CSF.
 Treatment Steps
1. Prevention: Counsel pregnant women to avoid cat litter, infected
meat (sources of Toxoplasma oocysts).
2. Shunt for hydrocephalus.
3. Pyrimethamine, sulfadiazine, and leukovorin for 1 year.
4. Multidisciplinary medical management.
blueberry muffin lesions, hepatosplenomegaly, anemia, cardiac lesions, deafness,
cataracts.
 Symptoms
Hepatosplenomegaly, “blueberry muffin” lesions, anemia with ex-
tramedullary hematopoiesis, thrombocytopenia, cardiac lesions(PDA, VSD), cataracts, mental retardation, deafness.
Congenital Rubella Infection
(German Measles)
 Description
Virus occurring in epidemics that causes multiple congenital anom-
alies, especially in first-trimester exposure. Incidence greatly decreased with immunizations, obstetric serology screening
 Diagnosis
Serology, virus isolation (pharyngeal, urine, CSF).
seizures (temporal lobe); encephalitis, vesicles,
overwhelming sepsis, hepatitis
 Symptoms
• Intrauterine—seizures, microcephaly, chorioretinitis, CNS calcifi-
cations.
• Neonatal acquired—encephalitis seizures, skin vesicular lesions
(also eye and mouth). Overwhelming sepsis with disseminated infection.
 Diagnosis
Symptoms at birth of scarring, chorioretinitis, and hydranencephaly
may have intrauterine growth retardation, microcephaly, strabismus.
Herpes simplex: usually acquired at birth;
Herpes Simplex Virus (HSV)
 Description
Neonatal HSV infection affects 1 of 5,000 deliveries, occasionally by
in utero transmission (10%) but usually at delivery. Most common
HSV-2 (70%), highest transmission during primary maternal infection
Rx acyclovir.
 Treatment Steps
1. Antiviral therapy (acyclovir or vidarabine).
2. Pediatric infectious disease consult.
A woman with a herpes
outbreak at the time of
delivery should have a C-
section to avoid
transmission of herpes to
the newborn
 Symptoms
Infected newborns usually asymptomatic but usually show first symp-
toms by 6 months. Generalized lymphadenopathy, multiple bacterial infections, hepatosplenomegaly, chronic diarrhea, persistent thrush,
poor growth, respiratory distress (lymphoid interstitial pneumonitis, Pneumocystis carinii pneumonia [PCP]), pancytopenia.
Human Immunodeficiency Virus (HIV)
 Description
Ninety percent of pediatric HIV infection in the United States is
from vertical transmission from HIV+ mother. Untreated newborns
usually develop full-blown acquired immune deficiency syndrome
(AIDS) by 5–8 years of age.
 Diagnosis
Early newborn serology limited—reflects maternal state. Polymerase
chain reaction (PCR)-DNA most sensitive (50% at newborn, 94% at
0–4 months), HIV culture, p24 antigen. Can completely rule out ver-
tical HIV by 2 years of age.
 Treatment Steps
1. Intrapartum maternal treatment (oral zidovudine [azidothymi-
dine, AZT] last 2 trimesters plus IV AZT during labor) plus 6
weeks oral AZT for newborns decreases vertical transmission from
28% to only 8%.
2. Close clinical and lab monitoring of at-risk newborns.
3. Inactivated polio vaccine, annual influenza vaccine, pneumococcal
vaccine, annual purified protein derivative (PPD) tuberculosis (TB)
test, trimethoprim–sulfamethoxazole PCP prophylaxis.
4. Antiretroviral therapy including reverse transcriptase inhibitors and protease inhibitors for proven HIV infection.
 Symptoms
Hooded prepuce, chordee (ventral curving of penis), undescended
testis (10%); if severe, consider ambiguous genitalia.
Hypospadias
 Description/Diagnosis
Anomaly of penile urethra that opens on ventral glans, shaft, or perineum. Clinical diagnosis
 Treatment Steps
1. Avoid circumcision—save foreskin for reconstruction.
2. Surgical reconstruction in first year
 Symptoms: Pubic rami and rectus muscles widely separated, males with epispadias (urethra opens on dorsum of penis), undescended testes, inguinal hernia, severe genitourinary (GU) reflux.
Bladder Exstrophy
 Description: Uncommon (1/20,000 births) congenital absence of anterior wall of bladder and abdomen, with exposure of bladder mucosa
 Treatment Steps
1. Cover exposed bladder with plastic wrap.
2. Surgical closure within 24 hours.
3. Family counseling, multidisciplinary approach.
4. Urinary control, ambulation, and sexual function usually preserved.
Triad of deficient abdominal muscles, undescended testes, and uri-
nary tract abnormalities.
Prune-Belly Syndrome (Eagle–Barrett Syndrome)
Prognosis based on degree of renal and
pulmonary dysplasia (1/30,000 live births).
Severe: flat nose, recessed
chin, low-set ears). Milder cases may present with abdominal masses (hydronephrosis), urinary tract infections (UTIs), or a weak urinary stream.
Posterior Urethral Valves
 Description
Congenitally abnormal sail-like valves in male posterior urethra causing variable degrees of obstruction.
 Symptoms
If severe, may be stillborn with Potter syndrome due to severe oligo-
hydramnios (lung hypoplasia, fetal compression: flat nose, recessed
chin, low-set ears). Milder cases may present with abdominal masses
(hydronephrosis), urinary tract infections (UTIs), or a weak urinary stream.
 Diagnosis
Voiding cystourethrography.
 Treatment Steps
1. Transurethral endoscopic valve ablation.
2. Prognosis based on renal and pulmonary damage.
Common cause of congenital renal obstruction, usually unilateral
(80%)
Ureteropelvic Junction (UPJ) Obstruction
Common cause of congenital renal obstruction, usually unilateral
(80%)
Usually seen on left, often with single umbilical artery (1/1,000 births).
Unilateral Renal Agenesis
Nonfunctioning, unilateral cystic flank mass with little or no identifi-
able renal tissue.
Multicystic Kidney
Usually excised due to possible risk of later malig-
nancy or infection
presenting at birth with severe
oligohydramnios/Potter syndrome or bilateral flank masses and hy-
pertension. Multiple small renal cysts. Congenital hepatic fibrosis.
Polycystic Diseases of the Kidney
Infantile
Autosomal recessive inheritance
Poor prognosis.
cause of renal failure in adults, usually pre-
sents in the fourth or fifth decade. Variable number of renal cysts,
may have some cysts beginning in childhood.
Polycystic Diseases of the Kidney Adult
Autosomal dominant,
 Description
Failure of location of testes in scrotum. Location may be intra-
abdominal, inguinal canal, ectopic, or absent. Bilateral 25%. Inci-
dence in preterm infants 17%, newborns 3%, children/adults 0.7%.
Testis rarely spontaneously descends after 1 year of life. Often associ-
ated indirect inguinal hernia.
Undescended Testicle (Cryptorchidism)
 Description
Failure of location of testes in scrotum. Location may be intra-
abdominal, inguinal canal, ectopic, or absent. Bilateral 25%. Inci-
dence in preterm infants 17%, newborns 3%, children/adults 0.7%.
Testis rarely spontaneously descends after 1 year of life. Often associated indirect inguinal hernia.
 Diagnosis
Clinical, must differentiate from retractable testis. Ultrasound, magnetic resonance imaging (MRI), or laparoscopy may be helpful if testis not palpable.
 Treatment Steps
1. Testis palpable: watch for descent. Orchiopexy after 1 year.
2. Testes not palpable: consider hCG trial if bilateral.
3. Orchiectomy for atrophied testis due to risk of malignancy and infertility for contralateral testis.
a. 95% with ambiguous genitalia, 50–75% salt
losing with severe life-threatening hyperkalemia.
b. Maternal use of androgens in pregnancy.
 Diagnosis
Elevated serum 17-OH progesterone. Newborn screening program
in some states.
Female Pseudohermaphroditism
 Description
A state in which an individual is distinctly one sex or another with somatic characteristics of both sexes
Genotype XX, ovaries and uterus with virilized genitalia due to androgen exposure.
a. Congenital adrenal hyperplasia (adrenogenital syndrome
[CAH])—disorder of steroidogenesis, 95% caused by 21 hy-
droxylase deficiency with ambiguous genitalia, 50–75% salt
losing with severe life-threatening hyperkalemia.
b. Maternal use of androgens in pregnancy.
 Treatment Steps
1. Treat severe hyperkalemia with calcium, alkalinization, insulin/glucose, kayexalate.
2. Glucocorticoid and mineralocorticoid replacement.
Typically presents in later childhood with inguinal masses (testes) or amenorrhea.
Male
Genotype XY, lack of virilization.
Testicular feminization: phenotypic
female with blind vaginal pouch due to lack of testosterone recep-
tors; X-linked recessive.
Careful psychosocial counsel-
ing and education to determine gender assignment
Severe micrognathia (hypoplastic mandible) plus glossoptosis (dis-
placement of tongue downward), causing variable degrees of respi-
ratory distress.
Pierre Robin Anomaly
Airway problems usually resolve as child grows.
 Symptoms
Respiratory distress/cyanosis relieved by crying (bilateral); unilateral discharge (unilateral). Up to 50% with associated anomalies.
Choanal Atresia
 Description
Unilateral or bilateral bony (90%) or membranous (10%) septum between nose and pharynx.
CHARGE syndrome (coloboma of eye, heart defects, atresia of choanae, retardation, genital hypoplasia/cryptorchidism, ear anomalies).
 Diagnosis
Inability to pass catheter through nostril to pharynx, confirm with
computed tomographic (CT) scan.
 Treatment Steps
1. Respiratory support, oral airway if bilateral.
2. Bilateral repaired in infancy.
3. Unilateral repaired electively at 2–5 years
(coloboma of eye, heart defects, atresia of choanae, retardation, genital hypoplasia/cryptorchidism, ear anomalies
CHARGE syndrome
ncreased flexibility
of larynx with intermittent collapse and airway obstruction on inspi-
ration (crowing respirations). Worst in early infancy, exacerbated
with crying or prone position.
Congenital Laryngeal Stridor (Laryngomalacia)
 Description
Most common congenital laryngeal abnormality.

Also consider vocal cord paralysis, true airway lesions (hemangiomas, papillomas, webs).
Diagnose clinically by fluoroscopy or
direct laryngoscopy. Visually self-limited but may need airway support if severe, failure to thrive.
wheezing or stridor
Vascular Rings and Slings
Anomalous thoracic vessels compressing the airway causing wheez-
ing or stridor. Examples include double aortic arch, right aortic arch
with either aberrant subclavian artery or ligamentum arterosum
(PDA remnant).
Barium swallow, airway fluoroscopy, echocardio-
grams, and MRI helpful for diagnosi
 Symptoms
Newborn respiratory distress, mediastinal shift.
 Diagnosis
Chest radiograph with hyperinflation (must distinguish from pneu-
mothorax).
Congenital Lobar Emphysema
 Description
Number one congenital lung lesion, usually unilateral lobar hyperinflation (often left upper lobe) due to early in utero bronchial obstruction with normal alveolar histology.
 Treatment Steps
Surgical resection.
Symptoms
Newborn respiratory distress, mediastinal shift
 Diagnosis
Chest radiographic variable with opaque or multiple cystic areas (must distinguish from diaphragmatic hernia)
Cystic Adenomatoid Malformation
 Description
Number two congenital lung lesion, single enlarged lobe due to
early embryonic insult with little normal lung tissue seen in the cys-
tic structures.
 Treatment Steps
Surgical resection.
May present with infection, respiratory distress.
Pulmonary Sequestration
 Description
Segments of embryonic lung tissue that is nonfunctional and nourished by anomalous systemic vessels. May present with infection, respiratory distress.
1. Intralobar—within normal visceral pleura, 2/3 left-sided; arterial
supply, aorta. Venous drainage, pulmonary veins.
2. Extralobar—separate visceral pleural covering, 90% left-sided, arterial supply, pulmonary artery or systemic artery. Venous
drainage, azygos or portal vein.
 Diagnosis
Chest x-ray (CXR), chest CT/MRI, arteriogram.
 Treatment Steps
Surgery as indicated.
 Symptoms
—left-sided 90%, severe newborn respiratory distress, scaphoid abdomen, mediastinal shift, pulmonary hypoplasia.
• —often presents later as a bowel obstruction
Diaphragmatic Hernia
 Description
Disorder of fetal diaphragm development with intrusion of abdominal contents into the thorax (1/2,000 births)
 Symptoms
• Foramen of Bochdalek hernia—left-sided 90%, severe newborn
respiratory distress, scaphoid abdomen, mediastinal shift, pulmonary hypoplasia.
• Foramen of Morgagni hernia—often presents later as a bowel obstruction.
 Diagnosis
Clinical, CXR shows bowel in thorax. Often diagnosed at prenatal
ultrasound.
 Treatment Steps
1. Aggressive newborn resuscitation.
2. Consider extracorporeal membrane oxygenation (ECMO) or
high-frequency ventilation if deteriorates.
3. Surgical correction when stable.
4. Prognosis depends on degree of pulmonary hypoplasia.
Cyanotic lesions
right (R)-to-left (L) shunt.
Cyanotic
• Tetralogy of Fallot: RV outflow obstruction/VSD/overriding aorta/RVH: most common cyanotic
CHD; “tet spells,” boot-shaped heart.
• Transposition of the great vessels: aorta arises RV, pulmonary artery arises LV; “egg on a
string” heart; balloon atrial septostomy, then arterial switch.
• Total anomalous pulmonary venous return: pulmonary veins drain into systemic venous
circulation (total or partial); “snowman” heart.
• Truncus arteriosus: single great artery is origin of aorta and pulmonary artery and coronary
artery; truncal valve click.
Acyanotic lesions
obstructive or L-to-R shunt.
Noncyanotic
• Ventricular septal defect: most common CHD, holosystolic murmur, usually presents first 1–2
months, subacute bacterial endocardititis (SBE) prophylaxis.
• Coarctation of aorta: pressure gradient upper extremity (UE) > lower extremity (LE), poor
femoral pulses, Turner syndrome; rib notching CXR, balloon angioplasty.
• Atrial septal defect: pulmonary ejection murmur plus wide split S2. No SBE prophylaxis,
usually presents after infancy.
• Patent ductus arteriosus: premature babies; congenital rubella; continuous machinery
murmur, wide pulse pressure.
• Hypoplastic left heart: underdeveloped LV and aorta; vascular collapse in first week; ductus
dependent, prostaglandin E treatment initially; Norwood or transplant.
long-standing L-to-R shunt causing pulmonary hypertension and reversal to R-to-L (cyanotic) flow
Eisenmenger syndrome
feeding difficulties, sweating, failure to thrive, tachycardia, hepatomegaly, respiratory distress.
Common presentations of congestive heart failure (CHF) in infants
most common cyanotic
CHD; “tet spells,” boot-shaped heart.
Tetralogy of Fallot:
RV outflow obstruction/VSD/overriding aorta/RVH
“egg on a string” heart
Cyanosis from birth, CHF. Later clubbing
 Diagnosis
Clinical—RV heave with loud S2.
CXR—Narrow cardiac waist, “egg on a string.”
ECG—Normal as newborn.
Echocardiogram—Diagnostic.
Transposition of the great vessels: aorta arises RV, pulmonary artery arises LV
balloon atrial septostomy, then arterial switch.
 Treatment Steps
1. Balloon atrial septostomy (Rashkind procedure) to increase atrial
level mixing.
2. Definitive arterial switch repair has mostly replaced mustard
(atrial baffle) procedure.
“snowman” heart
May have cyanosis,
often with ASD. Heart may have “snowman” appearance on CXR.
Total anomalous pulmonary venous return
pulmonary veins drain into systemic venous
circulation (total or partial)
Anomalous pulmonary veins drain partially or totally into systemic ve-
nous circulation (right atrium [RA], superior vena cava [SVC], inferior
vena cava [IVC], portal veins) instead of left atrium.
truncal valve click.
 Diagnosis
May hear ejection click of truncal valve.
CXR—Right aortic arch 33%.
Electrocardiogram (ECG)—Right ventricular hypertrophy (RVH).
Echocardiogram—Cardiac catheterization
 Symptoms
Presentation dependent on the specific anatomy and degree of pul-
monary flow. May be increased flow with CHF or decreased flow with
cyanosis.
Truncus Arteriosus
single great artery is origin of aorta and pulmonary artery and coronary artery
 Description
A single great artery arising from the base of the heart giving origin
to the coronary, pulmonary, and systemic arteries, usually with VSD (2% of all CHD).
 Treatment Steps
1. Treat CHF.
2. Surgical repair to avoid persistent pulmonary hypertension.
holosystolic murmur, usually presents first 1–2 months
Ventricular septal defect:most common CHD
subacute bacterial endocardititis (SBE) prophylaxis.
pressure gradient upper extremity (UE) > lower extremity (LE), poor
femoral pulses, Turner syndrome; rib notching CXR
Coarctation of aorta
balloon angioplasty.
pulmonary ejection murmur plus wide split S2
usually presents after infancy.
Atrial septal defect
No SBE prophylaxis,
premature babies; congenital rubella; continuous machinery
murmur, wide pulse pressure.
Patent ductus arteriosus
vascular collapse in first week
in first 2 weeks, get sud-
den cyanosis, respiratory distress, acidosis, and CHF with vascular
collapse.
Hypoplastic left heart: underdeveloped LV and aorta
Hypoplastic Left Heart Syndrome
 Description
Underdeveloped left ventricle and ascending aorta often with mitral valve abnormalities or AV canal. Responsible for up to 20% CHD neonatal deaths.
 Symptoms
Ductal-dependent lesion: when PDA closes in first 2 weeks
ductus dependent, prostaglandin E treatment initially; Norwood or transplant.
 Diagnosis
Echocardiogram diagnostic.
 Treatment Steps
1. Immediate prostaglandin E to keep ductus open.
2. Correction by heart transplant or staged cardiac reconstruction
(Norwood procedure).
 Symptoms
Rapid increase in head circumference, split sutures, bulging ante-
rior fontanelle, setting-sun sign (of eyes), irritability, lethargy, vomit-
ing, sixth nerve palsy, papilledema, long tract signs. Symptoms
Rapid increase in head circumference, split sutures, bulging ante-
rior fontanelle, setting-sun sign (of eyes), irritability, lethargy, vomiting, sixth nerve palsy, papilledema, long tract signs.
Hydrocephalus
 Description
Condition of impaired circulation, absorption, or overproduction of
CSF leading to increased intracranial pressure (ICP) and risk of
brain herniation.
1. Communicating Hydrocephalus
Blockage of CSF outside the ventricular system or its exit foramina
or an overproduction of CSF. Commonly from subarachnoid and in-
traventricular hemorrhage as seen in premature infants and post-
meningitis, causing obstruction of arachnoid villi with decreased
CSF resorption.
2. Noncommunicating Hydrocephalus
Ventricular system obstruction including:
a. Aqueductal stenosis—congenital, postinfectious.
b. Chiari malformation
c. Dandy–Walker
a. Aqueductal stenosis—congenital, postinfectious.
b. Chiari malformation—low cerebellar tonsils.
c. Dandy–Walker cyst of fourth ventricle
 Diagnosis
Clinical plus head CT scan. Avoid lumbar puncture: risk of hernia-
tion.
 Treatment Steps
1. Emergency management for signs of severe increased ICP includ-
ing hyperventilation, osmotherapy (mannitol).
2. Emergency ventriculoperitoneal (VP) shunt usually indicated.
 Description
Any opacity of the lens—
differential
Congenital Cataract
 Pathology
Hereditary (autosomal dominant/recessive, X-linked), chromoso-
mal abnormalities (trisomies), congenital infection (rubella, CMV,
toxoplasmosis), metabolic (galactosemia, hypocalcemia), prematu-
rity (usually resolves spontaneously).
requires early intervention to prevent permanent visual impairment.
 Treatment Steps
1. Surgical removal of lens material.
2. Correction of resultant retractive errors with spectacles.
3. Correction of sensory deprivation amblyopia.
May present with tearing, photophobia, corneal
clouding, eye enlargement, conjunctivitis.
Congenital Glaucoma
 Description
Abnormal elevation of intraocular pressure, causing eye damage and visual impairment.
Seen in Sturge–Weber
syndrome (facial port-wine stain, seizures, CNS calcifications), neu-
rofibromatosis, congenital rubella, and retinopathy of prematurity.
Treatment is surgical.
facial port-wine stain, seizures, CNS calcifications, congenital glaucoma
Sturge–Weber syndrome
often manifested by delay in language skills.
differential
Congenital Deafness
 Description
Conductive (abnormal sound transmission up to middle ear) or sensorineural (disorder of inner ear or auditory nerve) hearing disorder. Hearing loss often manifested by delay in language skills.
 Pathology
Syndromes:
• Waardenburg
• Alport
• Familial (70% recessive).
• Craniofacial anomaly/syndrome (Pierre Robin, Treacher–Collins,
Crouzon’s).
• Isolated ear malformations.
• Congenital infection (CMV, rubella).
• Maternal ototoxic drugs.
• Prematurity.
• Waardenburg (autosomal dominant, white forelock).
• Alport (X-linked dominant, nephritis).
 Diagnosis
Clinical suspicion (especially by caretaker). Screen high-risk new-
borns (family history, ear anomalies, congenital infections, prematu-
rity) with auditory-evoked brain stem response test, audiology assess-
ment. Universal screening at birth identifies congenital causes.
 Treatment Steps
1. Evaluate for early amplification device.
2. Consider surgical implant if indicated.
3. Counseling, family support. Consider sign language, lip reading.
 Symptoms
Signs and symptoms depend on the region of spinal cord involved
and the extent of the lesion. Clues to diagnosis are sacral dimple,
tuft of hair, or birthmark over the spine. Asymptomatic or distur-
bances of bowel, bladder, and motor function. Seventy-five percent of anencephalics are stillborn. Majority have normal intelligence.
Neural Tube Defects
 Description
Failure of neural tube closure in utero (normally closes by day 26).
Degrees of severity include: spina bifida occulta (incomplete closure
of the posterior lumbosacral spinal cord) (see Fig. 14–4), meningo-
cele (herniation of the meninges through the spinal canal defect
without neural tissue), encephalocele (herniation of the meninges
and brain substance through a skull defect, myelomeningocele (severe
herniation of the meninges and spinal cord), and anencephaly (con-
genital absence of the cerebral hemisphere and cranial vault). Asso-
ciated with hydrocephalus, Arnold–Chiari malformation, and tethered cord syndrome.
 Diagnosis
Prenatal ultrasonography. MSAFP. Maternal acetylcholinesterase
(ACHE). Clinical exam, MRI.
 Treatment Steps
1. Prevention by maternal folate supplementation during preg-
nancy.
2. Cover lesion with sterile saline-soaked dressing.
3. Surgical resection and closure, unless vital neurologic or vascular
structures involved.
4. Orthopedic and urologic investigation and intervention.
5. Monitor for subsequent hydrocephalus
 Symptoms
There are four types with variable severity. Severe form (type II) =
early death. Blue sclera, hearing loss, osteoporosis, multiple frac-
tures, teeth deformities, growth retardation. Autosomal dominant or
recessive.
Osteogenesis Imperfecta (Brittle Bone
Disease)
 Description
Inherited disorder of collagen characterized by variable bone
fragility.
 Diagnosis
Child abuse a common differential diagnosis when multiple frac-
tures. Triad of positive family history, frequent fractures, or blue
sclera not 100% sensitive. Need skin biopsy for definitive diagnosis.
 Treatment Steps
1. Genetic classification.
2. Orthopedic and dental care.
3. Genetic counseling.
 Diagnosis
Clinical exam: Asymmetric thigh creases or leg lengths, positive Or-
tolani sign (hip reducibility), positive Barlow sign (hip dislocatabil-
ity), limitation of hip abduction (late sign).
Developmental (Congenital) Dysplasia of the
Hip (DDH)
 Description
Spectrum of hip dysplasia ranging from mild subluxation to total
dislocation of the femoral head from the acetabulum, due to multi-
factorial genetic plus environmental factors (1–2/1,000 births). Left
hip most common. Leads to avascular necrosis.
 Symptoms
Risk factors include female, breech presentation, positive family his-
tory, neonatal positioning (excessive hip extension). Associated with
torticollis, metatarsus varus, calcaneovalgus, talipes equinovarus(clubfoot)
Diagnosis
Hip ultrasonography. Hip radiograms (age 2–3 months).
 Treatment Steps
Management depends on degree of hip dysplasia.
1. Pavlik harness.
2. Closed reduction (traction).
3. Open surgical reduction (over age 6 months, failed above
treatment).
 Description
Complex foot deformity with plantar flexion, medial rotation, varus
angulation, metatarsal adduction (1/1,000 births). Fifty percent bi-
lateral.
 Symptoms
Severity varies. Increased risk of DDH.
 Diagnosis
Clinical exam. Foot small compared with opposite foot, deep medial
foot crease, forefoot adducted, heel in equinovarus.
Talipes Equinovarus (Clubfoot)
 Treatment Steps
1. Manipulation and serial corrective casting.
2. Surgical correction.
 Description
Head tilts to affected side and chin rotates to opposite side. Usually
due to sternocleidomastoid (SCM) fibrosis.
 Symptoms
Head tilt. Usually palpable subcutaneous mass over muscle
Congenital Torticollis (Wryneck)
 Diagnosis
Clinical exam.
 Treatment Steps
1. Resolution in 2–6 months with stretching exercises.
2. Differentiate from Klippel–Feil syndrome (cervical spine, renal,
genital, cardiac, nervous system anomalies), isolated hemiverte-
bra, unilateral absence of SCM.
3. Surgery if persists for over a year, facial asymmetry, limitation of
neck movement by 30°
(cervical spine, renal,
genital, cardiac, nervous system anomalies)
Klippel–Feil syndrome
Defect in the formation of the pigment melanin
Albinism
Multiple variants,
tyrosinase + or −. Autosomal recessive oculocutaneous forms common with numerous ocular abnormalities
 Treatment Steps
1. Sun protection.
2. Ophthalmologic care.
3. Psychosocial support.
4. Genetic counseling
Heterogeneous group of congenital hereditary blistering disorders with lesions often produced by mechanical trauma. Range from mild simplex form to life-threatening fetalis form. Characteristic mitten hand deformities in severe cases. Autosomal dominant or recessive. Infection causes most morbidity/mortality
Epidermolysis Bullosa
 Treatment Steps
1. Multidisciplinary approach.
2. Prevention of infection and dehydration.
3. Dental and nutritional support.
Failure of primary (lip) and secondary (cleft) palate closure.
 Symptoms
Associated with feeding problems, otitis media, speech problems.
Linked with many syndromic disorders
Cleft Lip/Palate
 Description
Failure of primary (lip) and secondary (cleft) palate closure. Com-
mon (1/1,000 live births). Multifactorial inheritance (3–5% recurrence with affected parent or sibling; 10% if two parents or siblings).
 Diagnosis
Clinical exam.
 Treatment Steps
1. Airway protection as needed.
2. Modified feeding nipple.
3. Surgical repair.
4. Multidisciplinary approach.
 Symptoms
Maternal polyhydramnios, excessive oral secretions, respiratory distress, signs or symptoms of aspiration pneumonia.
 Diagnosis
Failure to pass nasal catheter to stomach, air-distended proximal
esophageal pouch on radiograph. Barium studies rarely needed.
Surgical exploration.
Tracheoesophageal Fistula (TEF)
 Description
Failure of trachea and esophagus to separate during embryogenesis.
Tracheal-to-distal esophageal fistula with proximal esophageal atre-
sia is most common type (85%). Survival dependent on birth weight
and presence of major cardiac defects.
 Treatment Steps
1. Usually initial gastrostomy tube.
2. Search for VATER or VACTERL association: Vertebral defects,
Anal atresia, Cardiac anomalies, TracheoEsophageal fistula, Re-
nal anomalies, Limb malformations.
3. Surgical repair
VATER or VACTERL association
Vertebral defects,
Anal atresia, Cardiac anomalies, TracheoEsophageal fistula, Renal anomalies, Limb malformations.
 Symptoms
Maternal polyhydramnios. Bilious projectile emesis. Abdominal distention.
 Diagnosis
Double bubble on abdominal radiograph (air-distended stomach
and proximal duodenum) (see Fig. 14–5). Barium study
uodenal Atresia
 Description
Complete obstruction of duodenal lumen. Associated with midgut
malrotation, CHD, esophageal atresia.
 Treatment Steps
1. Correct fluid and electrolyte imbalance.
2. Evaluate for associated congenital anomalies.
3. Surgical repair.
 Symptoms
Progressive nonbilious emesis (projectile). Palpable right upper
quadrant (RUQ) mass (olive). Peristaltic abdominal waves in epigas-
trium. Dehydration with hypochloremic alkalosis.
Pyloric Stenosis
 Description
Mechanical gastric outlet obstruction due to hypertrophied pylorus,
increased in males/firstborn (1/250 births).
 Diagnosis
Clinical. Can confirm with ultrasound or barium study if necessary.
 Treatment Steps
Correction of fluid and electrolyte abnormality, then pyloromyotomy.
 Symptoms
Neonatal bilious emesis, abdominal distention, bloody stools (secondary to intestinal ischemia), signs
or symptoms of peritonitis or perforation. Malrotation may be
asymptomatic, found incidentally.
Malrotation of Small Intestine
 Description
Potentially life-threatening gastrointestinal (GI) malformation due
to incomplete rotation of bowel. Mechanical obstruction from either
poor fixation of cecum to abdominal wall (midgut volvulus or twist-
ing) or extrinsic bands (Ladd’s bands). Fifty percent present under
age 1 month. Volvulus has 15–20% mortality rate.
 Diagnosis
Clinical. Barium study: locate ligament of Treitz and cecum.
 Treatment Steps
1. Correct fluid and electrolyte imbalances.
2. Surgery.
 Symptoms
Most common presentation is painless rectal bleeding (peak at 2
years). Also can present as abdominal pain, intussusception.
Meckel’s Diverticulum
 Description
Anomalous outpouching in distal ileum (proximal to ileocecal
sphincter) 50–100 cm from ileocecal junction in 2% of population.
Two types of ectopic tissue (pancreatic, gastric). Associated with
other congenital anomalies (cardiac, Hirschsprung’s disease, duodenal atresia, Down syndrome, omphalocele)
 Diagnosis
Clinical plus technetium-labeled nuclear scan, barium study.
 Treatment Steps
1. Correct life-threatening anemia.
2. Surgical excision.
3. Evaluate for associated congenital anomalies.
 Symptoms
Presents as intestinal obstruction (with risk of enterocolitis), failure
to pass meconium in first week, emesis, long-term constipation, ab-
dominal distention. Presentation can simulate sepsis or necrotizing
enterocolitis.
Congenital Megacolon (Hirschsprung’s
Disease)
Functional obstruction of colon due to absence of normal innerva-
tion (aganglionosis) of distal colon. (Auerbach’s and Meissner’s plexus). Increased mortality with enterocolitis.
 Diagnosis
Clinical. Barium enema with transition zone (not always reliable) (see
Fig. 14–6). Rectal biopsy to detect absence of ganglion cells for definitive diagnosis (80% involves rectum only; 20%, longer segment).
 Treatment Steps
1. Correct fluid and electrolyte imbalances.
2. Broad-spectrum antibiotics if enterocolitis suspected.
3. Surgical excision of a ganglionic segment.
 Symptoms/Diagnosis
Absence of stool. Signs or symptoms of tethered cord or neurogenic bladder. Clinical diagnosis.
Imperforate Anus
Failure of anal development. Fistulas associated with high lesions
(above puborectal component of levator ani complex). Associated
with VACTERL anomalies.
 Treatment Steps
1. Evaluate for associated congenital anomalies.
2. Surgical repair.
3. Orthopedic and urologic care.
 Symptoms
Bleeding from GI tract, nose, intracranium, or circumcision site. In-
creased risk with prematurity, breast feeding (poor source of vitamin K), or prenatal maternal drug use (phenytoin, phenobarbital, salicylates, Coumadin)
Hemorrhagic Disease of Newborn
 Description
Vitamin K deficiency causing decreased production of clotting fac-
tors II, VII, IX, X. Usually presents in first week of life. A delayed
form due to malabsorption of vitamin K can occur at 4–12 weeks (i.e., liver disease, prolonged antibiotic use, cystic fibrosis).
 Diagnosis
Suspect with bleeding in infants who have not received vitamin K.
Prolonged prothrombin time (PT)/partial thromboplastin time
(PTT), low serum clotting factors, presence of serum PIVKA (pro-
tein produced in vitamin K absence). Normal bleeding time. Nor-
mal platelet count. Hemophilia usually presents later.
 Treatment Steps
1. Prevention by vitamin K injection, intramuscular (IM) for all new-
borns.
2. Vitamin K and fresh frozen plasma for acute bleeding
 Symptoms
Wide spectrum of presentation from mild anemia and jaundice to
profound anemia, extreme jaundice leading to kernicterus (neuro-
toxicity), hydrops fetalis (hepatosplenomegaly, respiratory distress,
massive anasarca, and circulatory collapse) often causing death. He-
molysis worsens with each subsequent pregnancy or fetal blood expo-
sure. Thus, previously affected infant, stillborn, transplacental hem-
orrhage (abortion), or previous maternal blood transfusions are risk
factors.
Rh Incompatibility
 Description
Hemolytic process of infant red blood cells (RBCs) due to transpla-
cental passage of maternal antibody against Rh D antigen from Rh-negative mother to Rh-positive infant
 Diagnosis
Clinical picture, blood typing, positive direct Coombs’ test, high ma-
ternal anti-D antibodies, smear (nucleated RBCs, cells of hemolysis),
reticulocytosis, indirect hyperbilirubinemia. Prenatal ultrasound di-
agnosis of hydrops shows skin/scalp edema, ascites, pleural/pericor-
dial effusions. Prenatal confirmation by spectophotometric analysis
of amniotic fluid.
 Treatment Steps
1. Prevent sensitization by RhoGAM (anti-D gamma globulin) injec-
tion to all Rh-negative women with possible fetal blood exposure
within 72 hours.
2. In utero transfusion (intraperitoneal or umbilical vein) and/or
early delivery (32–34 weeks) if severe.
3. Cardiopulmonary resuscitation if necessary.
4. Correct severe anemia and reduce toxic bilirubin concentration
(consider exchange transfusion).
 Presentation
Usually mild with jaundice as only manifestation. Rarely severe ane-
mia, hydrops
ABO Incompatibility
 Description
Infant hemolytic process due to major blood group incompatibility
between mother (type O) and infant (type A or B). Milder than Rh
incompatibility.
 Diagnosis
Suspect with type O mother and jaundice. Positive direct Coombs’,
indirect hyperbilirubinemia, mild anemia, and spherocytosis and he-
molysis on blood smear.
 Treatment Steps
1. Phototherapy for jaundice.
2. Exchange transfusion for anemia or hyperbilirubinemia rare
(bilirubin level for exchange is controversial)
SYMMETRIC
INTRAUTERINE GROWTH RETARDATION
Head:body size
Onset
Perinatal asphyxia
Hypoglycemia
Causes
Proportional
Early (< 28 weeks)
+/−
+/−
Chromosomal abnormality
Congenital malformation
Congenital infection
Early Onset (Symmetric)
Fetal insult in early pregnancy (< 28 weeks’ gestation). Proportional
head:body size. Causes include maternal vascular disease (hyperten-
sion [HTN], renal disease), congenital malformation, chromosome
abnormalities (trisomies). Low risk for perinatal asphyxia and hypoglycemia.
ASYMMETRIC INTRAUTERINE GROWTH RETARDATION
Head:body size
Onset
Perinatal asphyxia
Hypoglycemia
Causes
Increased
Late (> 28 weeks)
+++
+++
Maternal disease
(preeclampsia, diabetes)
Poor maternal nutrition
Uteroplacental insufficiency
Late Onset (Asymmetric, Head Sparing)
Fetal insult in later pregnancy (> 28 weeks’ gestation). Head size rel-
atively large for body size. Causes include milder maternal diseases
(including HTN), poor maternal weight gain/nutrition. Increased
risk for perinatal asphyxia and hypoglycemia.
Fetal Monitoring
1. Nonstress Test (NST)
Monitors fetus by skin surface electrodes or Doppler ultrasonic de-
vice on maternal abdomen. Reliable and harmless. At 32 weeks’ ges-
tation, reflex acceleration of fetal heart rate (FHR) normally occurs
with fetal activity. If a repeated NST is nonreactive, contraction stress
test or delivery is indicated.
Fetal Monitoring
Contraction Stress Test (CST)
Monitors uterine contraction in relation to fetal heart rate (FHR—
usually increases 15–30 seconds after onset of maternal contrac-
tions). Abnormal study is associated with higher mortality (88/1,000
deaths versus 0.4/1,000 deaths if normal response).
Fetal Monitoring
Intrapartum Continuous =Electronic monitor (FHR and uterine activity during labor).
Baseline pattern (normally 120–160 beats/min)
bradycardia
may suggest congenital heart block (fetal congenital heart de-
fect, maternal systemic lupus erythematosus [SLE]). Tachycardia reflects maternal fever, chorioamnionitis, fetal dysrhythmia.
Fetal Monitoring
Intrapartum Continuous =Electronic monitor (FHR and uterine activity during labor).
Beat-to-beat variability (usually 5–10 beats/min fluctuation in FHR)
loss of variability is associated with autonomic nervous
system, fetal sleep, fetal immaturity, maternal narcotic or seda-
tive use, fetal CNS depression.
Fetal Monitoring
Intrapartum Continuous =Electronic monitor (FHR and uterine activity during labor).
Type I (early deceleration)
Type I (early deceleration, head compression)—asymmet-
ric fetal heart pattern that closely mirrors uterine contrac-
tion. Benign pattern—often due to fetal head compres-
sion against maternal bony pelvis.
Fetal Monitoring
Intrapartum Continuous =Electronic monitor (FHR and uterine activity during labor).
Type II (late decelerations
Type II (late decelerations, uteroplacental insufficiency)—
asymmetric fetal heart pattern associated with a prolonged
deceleration phase and shorter return to baseline. Sugges-
tive of fetal hypoxia.
Management consists of mother repositioning, intravenous fluids, oxygen, and/or prompt
delivery.
Fetal Monitoring
Intrapartum Continuous =Electronic monitor (FHR and uterine activity during labor).
Type III (variable)
Type III (variable, cord patterns)—variable shape and tim-
ing of FHR in relation to uterine contraction. Associated
with cord compression. Worrisome if severe pattern (<< 60 beats/min, lasting > 60 seconds) or if associated with late decelerations or poor beat-to-beat variability.
Management includes maternal and/or fetal repositioning.
Maternal Serum α-Fetoprotein (MSAFP) Elevated
differential
Elevated with neural tube defects (80–85%), omphalocele defect,
multiple gestation, intrauterine fetal demise.
Maternal Serum α-Fetoprotein (MSAFP) Low
fetal
chromosome anomalies such as Down syndrome, trisomy 13 and 18, and Turner’s syndrome.
Amniocentesis
(timing)
Measures karyotype, biochemical or enzyme assays. Performed at
15–16 weeks’ gestation. Procedure associated with small risk of spon-
taneous abortion
Chorionic Villus Sampling
timeing
Placental tissue sampling. Similar study as aminocentesis, but earlier
results (first trimester).
 Symptoms
Fetal and/or neonatal distress, depending on the severity as well as
the timing of the insult. Often multiorgan involvement. The presen-
tation of hypoxic–ischemic brain injury depends on which area of
the CNS is involved. Diffuse hypoperfusion of the brain results in
mental retardation, seizures, motor deficits, and/or spastic diple-
gias. Hypoxia to the brain stem or thalamus results in cranial nerve
palsy, reflex disorders, or problems with breathing and temperature
regulation. Watershed infarcts result in auditory/visual deficits or
motor weakness. Impaired ventricular function or congestive heart
failure usually resolves over 1–3 months. Newborns rarely present
with thrombocytopenia, bleeding (secondary to impaired clotting
factor production), or disseminated intravascular coagulation
(DIC). Risk factors include IUGR, breech presentation, prematurity,
placental abnormalities, or systemic maternal insult (diabetes, drugs,
infection).
PERINATAL ASPHYXIA
 Description
Inadequate oxygenation and/or perfusion of visceral tissue leading
to tissue hypoxia, hypercapnia, and acidosis. Incidence 1.0–1.5% in
newborns (related to gestational age and birth weight).
 Treatment Steps
Treatment is supportive. Mortality 10–20% for full-term infant. Of
the survivors 20–45% have neurologic sequelae. Preterm
newborns have worse mortality and morbidity. Worse outcome asso-
ciated with prolonged asphyxia, severe encephalopathy, poorly con-
trolled seizures, persistent abnormal CT scan, elevated serum crea-
tine kinase (CK) BB, or absent heartbeat for 5 minutes. Survivors
have subsequent epilepsy (20–30%); (50% risk if presence of neuro-
logic deficit). If infant survives, organ systems excluding the nervous
system usually resolve spontaneously.
 Symptoms
Multisystem involvement depending on gestational age, birth
weight, and etiology. Acute problems include respiratory distress,
apnea, intraventricular hemorrhage, hypoxic–ischemic encephalopa-
thy, feeding dysfunction, necrotizing enterocolitis (NEC), PDA, car-
diovascular compromise, and temperature instability. Long-term
problems include CNS dysfunction (intellectual, motor, visual, audi-
tory), chronic lung disease, poor growth, metabolic problems,
retinopathy of prematurity (ROP). Marked increase in
mortality/morbidity < 26 weeks’ gestation and < 500 g.
PREMATURITY
 Description
Delivery prior to 37 weeks’ gestation. Incidence 4–8% in United
States. Number one cause of perinatal death in nonanomalous newborns.
 Risk Factors
Lower socioeconomic status, black race, maternal age (under age 16
years; over age 35 years), maternal history of preterm labor, preg-
nancy complications (infections, fetal anomaly, antepartum hemor-
rhage, preeclampsia, first-trimester bleeding), multiple gestation,
maternal smoking, uterine anomalies (incomplete septae, bicollis bicornuate), uterine trauma.
 Treatment Steps
1. Prenatal care/counseling.
2. Tocolytic therapy (ritodrine, terbutaline) delays delivery by 24–48
hours.
3. Consider magnesium sulfate, prostaglandin synthetase inhibitors.
4. Consider steroid administration to mature fetal lung.
5. Treat maternal bacterial vaginosis.
MULTIPLE GESTATION
complication?
 Description
Monozygous: identical twinning. Dizygous: fraternal twinning. Twins
1 in 80 incidence (851 monozygous; 852 dizygous). One in 86 preg-
nancies is triplets. Incidence is increasing with more patients needing and utilizing fertility assistance (i.e., fertility drugs, in vitro fertilization).
 Complications
Problems include abortions, congenital anomalies, severe preg-
nancy-induced HTN, preterm delivery, intrauterine growth retarda-
tion, fetal malpresentation, cord prolapse, cord entrapment, and
twin–twin tranfusion syndrome (donor [arterial] twin is associated
with oligohydramnia, growth retardation, anemia, hypovolemia, and
microcardia. Recipient [venous] twin is associated with polyhydram-
nia, large size, polycythemia, hypervolemia, and cardiac hypertro-
phy).
Mortality rates: 65–120 of 1,000 births (twins) and 250–310 of
1,000 births (triplets). Increased mortality if monozygotic twins (ver-
sus dizygotic), under 32 weeks’ gestation, under 1,500 g body
weight, discordancy of fetal size, late detection of monozygosity, mal-
presentation, labor outside high-risk center
 Diagnosis
Antepartum sonogram. Elevated maternal serum AFP. Zygosity de-
termination is aided by sex (different sex = dizygous), placenta
(monochorion = monozygous), blood or tissue typing, DNA finger-
printing. Suspect if family history, fertility hormonal treatment, in
vitro fertilization.
 Treatment Steps
1. Early detection and careful antepartum monitoring.
2. Early intervention for potential complications.
3. High-risk perinatal center ideal.
 Symptoms
Early onset (hours after delivery). Present with respiratory distress
(tachypnea, grunting, nasal flaring, retractions). Early problems in-
clude breathing problems/asphyxia, metabolic disturbances, ane-
mia, infection, cardiovascular compromise. Long-term complications
include bronchopulmonary dysplasia (BPD), cor pulmonale, ROP,
poor growth, tracheal/glottic damage, persistent PDA. In mild cases,
the severity of symptoms peaks by day 2–3. Risk factors include pre-
maturity, maternal diabetes, multiple pregnancy, precipitous deliv-
ery. Survival rate 95% if birth weight > 2,500 g; 65% survival if birth
weight < 1,000 g.
RESPIRATORY DISTRESS SYNDROME (HYALINE
MEMBRANE DISEASE)
 Description
Pulmonary disease in newborns is responsible for the majority of
neonatal deaths. Incidence is inversely proportional to newborn’s gestational age and birth weight (60–80% < 28 weeks, 10–15% < 2,500 g).
 Pathology
Lung immaturity is due to surfactant deficiency, incomplete struc-
tural development of lung, and highly compliant chest wall. These
factors result in atelectasis, hyaline membrane formation, retrac-
tions, and pulmonary edema. Surfactant reduces surface tension of
alveoli (prevents collapse). Synthesized and stored in type II pneu-
mocytes of fetal lung. Composed of phospholipids (77%), protein
(11%), cholesterol (8%). Dipalmitoyl phosphatidylcholine is major
ingredient.
 Diagnosis
Clinical presentation. CXR: fine reticular granularity of lung fields,
air bronchograms. Prenatal lung maturity tests include amniotic
fluid’s lecithin/sphingomyelin ratio > 2:1 and positive phosphatidyl
glycerol. Must differentiate from sepsis, congenital heart disease, hy-
pothermia, congenital lung anomaly (diaphragmatic eventration, cystic malformation), CNS disorder.
 Treatment Steps
1. Prevention of prematurity is goal (see Prematurity section).
2. Consider maternal steroid administration 48–72 hours prior to
delivery to stimulate fetal surfactant production if < 33 weeks’
gestation (exception: maternal toxemia, diabetes, renal disease).
3. Neonatal surfactant administration (via endotracheal tube) at de-
livery. Known benefits of early surfactant therapy include improved initial respiratory status, decreased incidence of pneu-
mothorax and pulmonary interstitial emphysema, decreased mor-
tality incidence. Surfactant’s theoretical risk is intravascular he-
molysis (IVH), pneumonia, sepsis, pulmonary hemorrhage,
allergic reaction.
4. Correction of acidosis, hypoxia, hypercapnia, hypotension, hy-
pothermia, anemia.
5. Maximize air exchange.
6. Avoid unnecessary pulmonary barotrauma or oxygen toxicity
PERINATAL INFECTIONS
 Symptoms
Conjunctivitis; afebrile pneumonia (repetitive staccato cough).
PERINATAL BACTERIAL INFECTIONS
Chlamydia
 Description
Chlamydia trachomatis. Most common sexually transmitted infection in
the United States. Transmission 50% from infected mother.
 Diagnosis
Organism isolation, monoclonal antibody, enzyme-linked im-
munoassay.
 Treatment Steps
Erythromycin. Appropriate isolation.
PERINATAL INFECTIONS

 Symptoms
Ophthalmia conjunctivitis, disseminated infection (bacteremia,
arthritis, meningitis, endocarditis), scalp abscess.
Gonococcal Infections
 Description
Neisseria gonorrhoeae. Concurrent infection with chlamydia is com-
mon.
 Diagnosis
Organism isolation (chocolate agar in 10% CO2; Thayer–Martin media).
 Treatment Steps
Parenteral antibiotics (pending sensitivity). Appropriate isolation.
PERINATAL INFECTIONS
Symptoms
Neonatal distress. Increased risk with maternal perinatal infection,
low birth weight, prolonged rupture of membranes, traumatic delivery, underlying immunologic or metabolic abnormalities.
Gram-Negative Bacilli (GNB)
 Description
Escherichia coli, Klebsiella, Enterobacter, Proteus, Citrobacter, Salmonella. All
can cause neonatal sepsis.
 Treatment Steps
Broad-spectrum antibiotics pending sensitivity. Isolation for Salmo-
nella meningitis.
PERINATAL INFECTIONS
 Symptoms
1. Early onset (first 3 days of life)—respiratory distress, apnea, pneu-
monia, cardiovascular compromise, meningitis.
2. Late onset (7 days to 3 months of age)—meningitis, osteomyelitis, septic arthritis, occult bacteremia.
Group B Streptococcal Infection
 Description
One to five cases per 1,000 live births. Can cause neonatal sepsis or
meningitis.
 Treatment Steps
1. Prevention––most women are screened for the presence of GBS
in the vagina at weeks 35–37. If GBS is present, antibiotics are
given to the mother during labor to prevent transmission to
neonate. Antibiotics include penicillin, ampicillin, and clin-
damycin, and are given intravenously.
2. Antibiotics are usually reserved for the neonate if signs of infec-
tion are present (fever).
PERINATAL INFECTIONS
 Symptoms
Marked dysphagia, respiratory distress, high fever ± seizure, continu-
ous crying. High mortality rate
Tetanus
 Description
Clostridium tetani spores. Contamination of umbilical stump
 Diagnosis
Organism isolation, exclusion.
 Treatment Steps
Supportive care. Tetanus immune globulin. ± Penicillin
PERINATAL INFECTIONS
Three groups at high risk
for infection with Listeria:
• Neonates
• Elderly
• Immunosuppressed
Listeriosis
 Description
Sepsis due to Listeria monocytogenes.
 Treatment Steps
Broad-spectrum antibiotics pending sensitivities. Ampicillin must be
used for empiric treatment of sepsis when Listeria is a possibility.