Fetal Syndromes

Front 1

What is a Sequence

Back 1

A single defect leading to the development of other defects.

Front 2

Syndrome

Back 2

The presence of 2 or more embryologically unrelated anomalies occurring together with relatively high frequency and having the same etiology. Two or more organs or body areas must be affected.

Front 3

Association

Back 3

Nonrandom occurrence of two or more defects occurring less frequently than in a syndrome, but more frequently than by chance alone.

Front 4

Amniotic Band Syndrome

Back 4

Rare condition caused by disruption of the amnion early in pregnancy that results in bands of tissue that trap and constrict portions of the fetal body.

Front 5

The severity of Amniotic Band Syndrome is related to

Back 5

Age at injury.

Front 6

Most severe condition on the spectrum of ABS is

Back 6

Limb body wall complex which can include marked fetal scoliosis and evisceration.

Front 7

What are the 3 types of severe abnormalities (defects) that can result from ABS.

Back 7

Craniofacial defect, Limb defects, Visceral defects.

Front 8

Name the type of Craniofacial defects that result from ABS

Back 8

Asymmetric encephalocele, asymmetric facial clefts, severe facial dysmorphia.

Front 9

Name the type of Limb defects from ABS

Back 9

Extremity amputation defects, club feet

Front 10

Name the types of Visceral defects that develop from ABS

Back 10

Abdominal wall defects, ectopia cordis

Front 11

What is the sonographic appearance of ABS

Back 11

Echogenic amniotic bands attached to fetus, various fetal anomalies, fetal postural deformities, various secondary abnormalities.

Front 12

Trisomy 13 (Patau's Syndrome)

Back 12

Chromosomal abnormality occurring 1:6000 births. Associated with psychomotor retardation and multiple anatomic anomalies. Poor rognosis. 85% die within first year.

Front 13

What are the pathologic / sonographic features of Trisomy 13.

Back 13

Holoprosencephaly, cleft lip/palate ( especially median cleft), IUGR, polydactyly, single umbilical artery.

Front 14

Other congenital anomalies associated with Trisomy 13

Back 14

Omphalocele, cystic renal dyspladia, VSD, truncus atteriosus, agenesis of corpus callosum.

Front 15

Trisomy 18 ( Edwards Syndrome)

Back 15

Chromosomal abnormality occurring in 1:3000 live births. IUFD or stillbirth is common in these fetuses with an average lifespan of 5 days.

Front 16

Trisomy 18 is associated

Back 16

Profound psychomotor retardation, growth deficiency and other abnormalities.

Front 17

Pathologic/ Sonographic features of Trisomy 18 (Edwards Syndrome)

Back 17

Overlapping fingers/ flexed hands, IUGR, polyhydraminos, ASD, VSD, single umbilical artery, choroid plexus cysts, micrognathi, " strawberry" shaped cranium, rocker bottom feet.

Front 18

Other congenital anomalies associated with Trisomy 18

Back 18

Omphalocele, diaphragmatic hernia, hydronephrosis, enlarged cisterns magna.

Front 19

Trisomy 21 (Down Syndrome)

Back 19

Chromosomal abnormality with mental retardation and a characteristic physical appearance. Occurs 1:710 births

Front 20

Sonographic Findings of Trisomy 21

Back 20

Nuchal fold measuring >6mm between 15 and 21 weeks

Front 21

Congenital anomalies associated with Down Syndrome

Back 21

Thickened nuchal fold, cystic hygroma, non immune hydrops, ASD, VSD, endocatdial cushion defect, duodenal atresia, pleural effusion, small or absent nasal bones, renal pyeliectasis, clinodactyly(Hypoplastic middle 5th phalanx), hyperchoic bowel, echogenic inyracardiac focus (EIF), ventriculomegaly.

Front 22

Turner's Syndrome

Back 22

A chromosomal syndrome attributed to complete or partial absence of an X chromosome. Occurs 1:2500-1:5000 live female births.

Front 23

Sonographic findings of Turners Syndrome.

Back 23

Cystic hygroma, lymphedema, diffuse lymph ancient as is, non immune hydrops, cardiovascular malformations, horseshoe kidneys, renal agenesis.

Front 24

Sonographic findings postnatally

Back 24

Hypoplastic/ a plastic uterus, ovarian dysgenesis/ streak like ovaries.

Front 25

Beckwidth- Weidmann Syndrome

Back 25

A group of congenital disorders characterized by the presence of EMG anomalies( exomphalis (omphalocele), macroglossia and gigantism.

Front 26

Beckwith- Weidmann Syndrome is associated with

Back 26

Cardiac malformations, placental enlargement, placental chorioangiomas, postnatal renal tumor (Wilms tumor)

Front 27

Pentalogy of Cantrell

Back 27

The association of two major defects: omphalocele and ectopia cordis

Front 28

What are 3 other defects associated with Pentalogy of Cantrell

Back 28

Involve lower sternum, anterior diaphragm and pericardium. Vertebral anomalies, ASD, VSD, Tetrology of Fallot, trisomies 13 and 18, Turners syndrome, craniofacial abnormalities, single umbilical artery, fetal ascites.

Front 29

Meckel- Gruber Syndrome

Back 29

Autosomal recessive condition including encephalocele, polycystic kidneys, polydactyly, cleft lip.

Front 30

VATER Association is Aka

Back 30

VACTERL ( Vertebral anomalies, Anal atresia/Imperforate anus, Cardiac Anomalies, Teach so esophageal, Fistula, Renal & Radial ray anomalies, Limb deformities.

Front 31

Fetal Alcohol Syndrome

Back 31

Associated with IUGR, Mental deficiency, microcephaly, micropthalmus, cardiac septal defects, hypospadias and other genital anomalies.

Front 32

Holt- Oram Syndrome

Back 32

Hereditary syndrome o malformations of the heart and upper extremities. Assoc with varied hand anomalies and cardiac septal defects.

Front 33

Noonan Syndrome

Back 33

Genetic disorder includes facial anomalies(hypertelorism, low set ears), cardiac abnormalities, lymphedema, cystic hygroma.