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92 Cards in this Set

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ACETYLCHOLINESTERASE
An enzyme found in the amniotic fluid when a neural crest anomaly is present. It may be found in trace amounts if an abdominal wall defect, such as omphalocele, is present.
ANCHONDROGENESIS.
A lethal type of dwarfism similar to thanatophoric dwarfism
ACHONDROPLASIA
A type of dwarfism characterized by a bulging forehead and short limbs.
ALPHA-FETOPROTEIN ( AFP)
An enzyme found in maternal blood and amniotic fluid that is elevated in the presence of neural crest anomalies, some gastrointestinal anomalies, fetal death, twins, wrong estimation of dates, fetal masses such as Sacrococcygeal teratoma and cystic hygroma, and maternal liver problems. Low levels of AFP are associated with Down syndrome
AMNIOTIC BAND SYNDROME
Bands within the amniotic fluid adhere to the fetus and amputate portions of limbs. In its most severe form, it causes the limb/body wall complex.
ANAL ATRESIA
Intestinal obstruction at the anal level due to failure to form the rectum; usually without sonographic features.
ANHYDRAMNIOS
No amniotic fluid.
ARNOLD-CHIARI MALFORMATION (TYPE II)
Low position of the cerebellum in the upper cervical spinal canal due to cord tethering. Associated with “Lemon” skull shape, banana-shaped cerebellum, and hydrocephalus.
BANANA SIGN
Change in the shape of the cerebellum
(it becomes curved) that occurs in the presence of spina bifida.
CISTERNA MAGNA
Fluid-filled space at the back of the head that lies between the cerebellum and the skull
CLEFT PALATE
Congenital gap in the midface that involves the palate, maxilla, and possibly the lip.
CLOACA
Fluid-filled bag into which ureters, rectum, and vagina enter; seen with certain developmental anomalies.
CLOSED NEURAL DEFECTS
Neural defects in which the spinal cord and brain are not in contact with the amniotic fluid and thus are not associated with an elevated alphafetoprotein level.
CLUBFOOT
The foot is acutely angled. This abnormal foot position may be a sign of chromosomal anomaly.
CYCLOPS
A single eye is present. Associated with holoprosencepaly.
CYLLOSOMA (limb/body wall complex)
Lethal abnormality thought to be due to amniotic bands. Features are gastroschisis, spina bifida, kyphoscoliosis, and absent limbs.
CYSTIC HYGROMA
Large fluid-containing sac filled with lymph, usually located in the region of the neck. May be part of a generalized fatal condition—lymphangiectasia—or a benign focal process. Associated with Turner’s and Down syndrome
CYTOMEGALIC INCLUSION DISEASE (CMV)
Fetal viral disease sometimes resulting in intracranial calcification, microcephaly, and mental deficiency.
DANDY-WALKER SYNDROME
Brain anomaly with a dilated fourth ventricle and possible secondary dilatation of the rest of the ventricles of the brain. A small cerebellum is the cardinal feature.
DIAPHRAGMATIC HERNIA
A portion of one diaphragm is missing, and the bowel or liver lies in the chest.
DOUBLE BUBBLE SIGN
Sign of duodenal atresia in which two circular, fluid-filled structures, representing the stomach and duodenum, are seen in the upper abdomen.
DOWN SYNDROME (MONGOLISM
Syndrome seen predominantly in the fetuses of women who are over 35 yrs old; recognizable at amniotic fluid analysis or chorionic villus sampling by the presence of an abnormal chromosome. It is associated with congenital heart disease and duodenal atresia.
DUODENAL ATRESIA
Intestinal obstruction at a duodenal level with subsequent distention of the duodenum and stomach by fluid. Associated with polyhydramnios and Down syndrome
DUPLICATION CYST
Congenital anomaly. A portion of the gastrointestinal tract, usually the stomach, is reduplicated. If a cystic mass can be seen with U/S, there is generally not a patent connection between the gut and the cyst.
DYSPLESIA
see mulicystic (DYSPLASTIC KIDNEY)
ECTOPIA CORDIS
The heart parially lies outside and anterior to the chest. Associated with Omphalocele and Pentalogy of Cantrell.
ELLIS-van CREVELD SYNDROME
(SIX-FINGERED DWARFISM)
TYPE OF DWARFISM IN WHICH THERE ARE EXTRA DIGITS
ENCEPHALOCELE
HERNIATION OF THE COVERINGS OF THE BRAIN THROUGH DEFECT IN THE SKULL. BRAIN TISSUE IS CONTAINED W/IN THE HERNIATION, ALTHOUGH USUALLY MOST OF THE CONTENTS OF THE SAC ARE FLUID.
EXENCEPHALY
VARIANT OF ANENCEPHALY IN WHICH SOME CORTICAL BRAIN REMAINS
FINNISH NEPHROPATHY
A CAUSE OF RENAL FAILURE AND INCREASED AFP. THE KIDNEYS ARE OFTEN NORMAL BUT MAY BE LARGE AND ECHOGENIC.
ANENCEPHALY
Most common fetal intracranial anomaly. The base of the brain and face are the only things present in the head; the craniaum is absent.
CYSTIC ADENOMATOID MALFORMATION
Anomaly in which a part of the lung is replaced by cysts.
DIASTEMATOMYELIA
Bony spur in the center of the spinal canal, splitting the cord.
GASTROSCHISIS
Condition similar to Omphalocele except that no membrane covers the herniated material. Gut floats freely in the amniotic fluid. The wal defect is in the right lower part of the abdomen.
HOLOPROSENCEPHALY
Intracranial anomaly. A Horseshoe-shaped ventricle replaces the 2 lateral ventricles. Usually fatal or causes severe mental retardation. Associated w/ Trisomy 13 and facial defects such as cleft lip and palate, hypotelorism in extreme cases, cyclopia and probscis
HOLT-ORAM SYNDROME
Congenital syndrome consisting of a combination of heart disease and absence of a digit or the radius in the arm.
HYDRANENCEPHALY
Absence of the cortical brain. Portions of the mdbrain and brainstem are present. Not compatible with life.
HYDROCEPHALUS
Marked enlargement of the cerebral ventricles. Implies entricular obstruction. A better term is Ventriculomegaly or nonspecific ventricular enlargement.
HYDRONEPHROSIS
An obstructed kidney with a dilated collecting system.
HYDROPS FETALIS
The fetal abdomen contains ascites and the skin is thickened by excess fluid. This condition has a variety of causes, of which the most well known is rhesus incompatibility (Rh disease). Other causes are grouped as nonimmune hydrops.
HYPOPLASTIC LEFT HEART SYNDROME
Congenital abnormality in which the aorta and left side of the heart are too small. This condition is often fatal after birth, even with surgery.
HYPOTELORISM
Condition in which the orbits are too close together.
ILEAL ATRESIA
Intestinal obstruction at a midgut level. Filling of small bowel loops with fluid; associated with polyhydramnios.
INFANTILE POLYCYSTIC KIDNEY
A congenital conditon in which large kidneys are filled with tiny cysts.
INIENCEPHALY
Defect consisting of an Encephalocele that involves the posterior aspects of the skull and the cervical vertebrae; some vertebrae may be missing.
KAROTYPE
Process of performing chromosomal analysis on a fetus.
KLEEBATTSCHADEL DEFORMITY
Skull deformity in which there is a large bony bulge of the superior aspect of the head.
KYPHOSCOLIOSIS
Spine that is bent sideways and undully flexed.
LAMINA
Lateral bridgeof bone covering the posterior spinal canal.
LEMON SIGN
Deformity of the skull in which it assumes a shpae similar to a lemon. The frontal areas become flatted. This type of anomaly is seen when spina bifida is present.
LIMB / BODY WALL SYNDROME
SAME AS CYLLOSOMA
lethal abnormality thought to be due to the amniotic bands. Features are Gastroschisis, spinal fifida, kyphoscoliosis, and absent limbs.
LYMPHANGIOMA
SEE CYSTIC HYGROMA
Large fluid-containing sac filled w/ lymph, usually located in the region of the neck.
MECKEL'S SYNDROME

(MECKEL-GRUBER SYNDROME)
A lethal syndrome consisting of infantile polycystic kidney, Encephalocele, and extra digits (polydactyly).
MECONIUM
Contents of the fetal bowel.
MECONIUM PERITONITIS
Bowel rupture in utero, which leads to meconium spilage with consequent calcification. There is usually bowel obstruction.
MEGACYSTIS MICROCOLON SYNDORME
Rare anomaly with huge bladder, dilated ureters, and calyces, and minute large bowel. Only the bladder is visible w/ u/s. Most patients are female, and there is often polyhyramnios.
MENINGOCELE
Spinal bone defect with cerebrospinal fluid pouch.
MICROCEPHALY
Unduly small skull and brain; associated with mental dificiency.
MICROGNATHIA
Small or absent jaw. A feature of a number of rare syndromes.
MULTICYSTIC (DYSPLASTIC) KIDNEY
Developmental abnormality of the kidney in which the normal renal parenchyma is totally replaced by cysts of varying sizes. If bilateral, it is not compatible with survival.
MYELOCELE
Spinal bone defect with spinal cord protursion, but no cerebrospinal fluid pouch.
MYELOMENINGOCELE
Bone defect associated with tethering and distortion of the spinal cord and a fluid-containing cavity at the level of the abnormality.
MUTATION
Spontaneous changee in the chromosomal make-up of a cell.
NEURAL CREST ANOMALY
A brain/spinal defect in which there is no skin covering on the spine or brain, and therefore contact between some portiion of the central nervous systemand teh anmiotic fluid occurs. This combination gives rise to a raised AFP level. Anencephaly, Encephalocele, and Spina bifida are examples of neural crest anomalies.
OMPHALOCELE
Herniation of some of the gut, including the liver, out of the abdomen through an umbilical opening (see gastroschisis). A membrane coversthe herniateed contents. Associated with other congenital anomalies.
OSTEOGENESIS IMPERFECTA
Congenital anomaly in which bone fractures occur.
PENTALOGY OF CANTRELL
Combination of partial diaphragmatic absence, ectopia cordis, Omphalocele, sternal abnormality, and pericardial deficiency.
PHOCAMELIA
Most of the arms or legs are absent so that flippers originate from the trunk. Used to be seen following thalidomide administration.
POSTERIOR URETHRAL VALVES
Valves situated in the posterior urethras cause partial or complete obstruction of the bladders, ureters, and kidneys. Occurs Only In MALES.
POTTER'S SYNDROME
Fetus with bilateral renal abnormalities, which may consist of absent kidneys, bilateral hydronephrosis, bilateral multicystic dysplastic kidneys, or infantile polycystic kidney. Anhydramnios may accompany this syndrome. The consequences of absent amniotic fluid-unusual face, deformed limbs, and hypoplastic lungs-will be seen at birth. Most such fetuses are stillborn.
PROBOSCIS
Instead of anose, this soft tissue tubular structure may be seen above the eyes in Holoprosencephaly.
PRUNE BELLY (EAGLE-BARRETT) SYNDROME (AGENESIS OF THE ABDOMINAL MUSCLES)
Congenital condition in which there are weakened or absent abdominal wall muscles, markedly distended ureters with tiny or hydronephrotic kidneys, and a large bladder.
PULMONARY HYPOPLASIA
Condition associated with Oligohydramnios and extrinsic pressure on the chest, due to fluid or masses, in which the lungs never function adequately after birth.
RACHISCHISIS
The bone and soft tissues that cover the posterior aspects of the spinal canal are unfused so the spinal cord is exposed.
REFLUX (VESICOURETHRAL)
In the normal fetus, the ureter enters the bladder, but not to go back to the kidney. If this tunnel is short, urine can pass in either direction. Reversal of urine flow back tothe kidney is known as reflux.
RHESUS (Rh)INCOMPATIBILITY (ERYTHROBLASTOSIS FETALIS)
The feal blood possesses a different Rh group from the maternal blood. When maternal blood cells leak into the fetal circulation, they interact, forming antibodies. In the next pregnancy there is hemolysis, and the fetus is left anemic with hydrops.
ROCKERBOTTOM FOOT
Abnormal foot with very prominent heel. May be an indication of a chromosomal anomaly.
RUBELLA
Viral disease that is associated with a number of fetal anomalies, including congenital heart disease, when occuring in utero.
SEQUESTRATION
Anomaly in which a segment of the lung does not connect with the trachea and has its own blood supply. SOmetimes the abnormal segment of he lung develops below the diaphragm.
SPINA BIFIDA
Bony spinal defect over the spinal canal. Nearly always accompanied by some form of Myelomeningocele, sometimes with Hydrocephalus.
TERATOMA
Tumor composed of multiple different tissues that may arise anywhere in the body, but usually in the sacrum.
TETHERING
The lower end of the cord normally ascends from the sacrum to level L2 in utero. With anomalies such as spina bifida and lipoma, it does not ascend, but terminates at a lower level.
TORCH
Group of congenital infectious diseases with similar features: Toxoplasmosis, rubella, cystomegalic inclusion disease, and herpes.
TOXOPLASMOSIS
Parasitic disease affecting the fetus in utero and causing intracranial calcification.
TRACHEOESOPHAGEAL FISTULA
Obstruction of the esophagus usually associated with a fistula to the trachea. Sometimes there is also a connection to the stomach through the trachea. In the most severe form no fluid reaches the stomach.
TRIPLOIDY
There are one and one half times as many chromosomes as there should be. Causes fetal death and a large, abnormal placenta that may look like a mole.
TRIRADIATE
The fingers in Thanatophoric Dwarfism are separated and short, forming a triradiate shape.
TRISOMY
Abnormal chromosomes are present; three are present where a specific pair should be. The most comon types are 13, 18, and 21 (hence trisomy)
TURNER'S SYNDROME
One sex chromosome is absent. Associated with Cystic Hygroma, a webbed neck, and mental deficiency.
VEIN OF GALEN ANEURYSM
A large arteriovenous fistula seen as a sizable cyst in the posterior aspect of the brain, above the tentorium.
VENTRICULOMEGALY
Enlargement of the intracranial ventricles, not necessarily associated with obstructio.
THANATOPHORIC DWARF
Form of dwarfism that affects not only the limbs but also the chest, which is too small. Invariably fatal.