Ch. 23 Fetal Syndromes

Question 1

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

Answer 1

Amniotic band syndrome

Question 2

What is the most severe condition on the spectrum of amniotic band syndrome

Answer 2

Limb body wall complex (LBWC)

Question 3

Sono finds of amniotic band syndrome include

Answer 3

Echogenic amniotic bands ATTACHED to the fetus
various fetal anomalies (craniofacial, limb, and visceral defects)
Fetal postural deformities (ie scoliosis)
various secondary abnormalities

Question 4

Term for uterine scars

Answer 4

Synechia

Question 5

T or F, amniotic sheets result in no anomalies or deformities

Answer 5

T. Amniotic sheets do NOT attach to the fetus. Sheets are a result of uterine synechia. They project all the way across the amniotic cavity in a sheet-like manner.

Question 6

Trisomy 13 is aka

Answer 6

Patau syndrome (85% die within first year)

Question 7

Describe sono finds of a fetus with Patau syndrome

Answer 7

Holoprosencephaly
cleft lip/palate (especially median cleft, due to division)
IUGR
Single umbilical artery (2VC)
VSD
omphalocele
cystic renal dysplasia
agenesis of corpus callosum

Question 8

Trisomy 18 is aka

Answer 8

Edwards Syndrome (IUFD or stillbirth is common, average lifespan of 5 days)

Question 9

Sono features of a fetus with Edwards syndrome

Answer 9

Overlapping fingers/ flexed hands
IUGR
Poly
ASD, VSD
2VC
CP cysts
micrognathia
“STRAWBERRY” shaped cranium
ROCKER BOTTOM feet
omphalocele
diaphragmatic hernia

Question 10

Sono findings of a fetus with Trisomy 21 aka Down syndrome

Answer 10

Thickened nuchal fold (>6mm between 15-21 weeks)
ASD, VSD, Endocardial cushion defect
duodenal atresia
hypoplastic or absent NB
Clinodactyly (hypoplastic middle 5th phalanx)
Hyperechoic bowel
cystic hygroma
non-immune hydrops
pleural effusion
EIF
HEART DEFECTS ALL THE WAY AROUND

Question 11

Turners syndrome is aka what other two names

Answer 11

Monosomy X or 45 XO

Question 12

A chromosomal syndrome attributed to complete or partial absence of an X chromosome

Answer 12

Turners aka Monosomy aka 45 XO

Question 13

Females are what kind of karyotype

Answer 13

XX. Males are XY

Question 14

Sono findings of a fetus with Turners syndrome

Answer 14

FEMALE
cystic hygroma, lymphedema
non-immune HYDROPS
cardiovascular malformations
horseshoe kidneys
renal agenesis

Question 15

Sono finds on a female fetus with Monosomy POSTnatally

Answer 15

hypoplastic / aplastic uterus (infertile)
Ovarian dysgenesis / streak like ovaries

Question 16

What syndrome is associated with macroglossia and gigantism

Answer 16

Beckwith-Wiedemann syndrome

Question 17

Another term for omphalocele

Answer 17

Exomphalos

Question 18

An autosomal recessive condition that includes
encephalocele
polycystic kidneys
Polydactyly

Answer 18

Meckel-Gruber Syndrome

Question 19

What two MAJOR defects are associated with Pentalogy of Cantrell

Answer 19

Omphalocele, ectopia cordis

Question 20

What abnormalities can be found in a fetus with VATER or VACTERL association

Answer 20

V - vertebral anomalies
A - Anal atresia / Imperforate anus
C - Cardiac anomalies
T - Tracheo }
E - esophageal fistula
R - Renal and radial ray anomalies
L - Limb deformities

Question 21

How might fetal alcohol syndrome affect a fetus

Answer 21

IUGR
mental deficiency
microcephaly
microphthalmos
cardiac septal defects
hypospadias and other genital anomalies

Question 22

Syndrome associated with malformations of the heart and upper ext

Answer 22

Holt-Oram syndrome (H for heart and Oram sounds like arm)

Question 23

Disorder that affects the ears, mandible, and palate

Answer 23

treacher-collins syndrome

Question 24

Syndrome that has high prevalence in the Amish

Answer 24

Ellis-Van Creveld syndome