Fetal Syndromes

Question 1

What is a sequence?

Answer 1

single defect leading to development of other defects

pg. E 212

Question 2

What is a syndrome?

Answer 2

presence of 2+ embryologically unrelated anomalies occurring together. 2+ body regions are affected
pg. E 212

Question 3

What is an association?

Answer 3

nonrandom occurence of 2+ defects

pg. E 212

Question 4

What is amniotic band syndrome?

Answer 4

ruptured amnion sticks and entangles fetal parts

pg. E 212

Question 5

What is the most severe condition if amniotic band syndrome is present?

Answer 5

limb-body wall complex

pg. E 212

Question 6

What is limb-body wall complex?

Answer 6

fetal scoliosis
evisceration (abdominal organs taken out)
Short or no umbilical cord
pg. E 212

Question 7

What defects are associated with amniotic band syndrome?

Answer 7

abdominal wall defects
clubfeet
ectopia cordis
encephalocele
extremity amputations
facial clefts
facial dysmorphia
pg. E 212

Question 8

What are the sonographic findings of amniotic band syndrome?

Answer 8

echogenic amniotic bands attached to fetus
at least 2 of the listed defects
pg. E 212 O 403

Question 9

What is another name for Trisomy 13?

Answer 9

Patau syndrome

pg. E 213 O 402

Question 10

What is the prognosis for Trisomy 13?

Answer 10

poor, 85 % die w/in first year

pg. E 213

Question 11

What are the classifications for Trisomy 13?

Answer 11

Holoprosencephaly*
Agenesis of the corpus callosum
Microcephaly
Cleft lip/palate
Club foot
Polydactyly
IUGR
Omphalocele
Single umbilical artery
Renal anomalies
pg. E 213

Question 12

What is another name for Trisomy 18?

Answer 12

Edward’s syndrome

pg. E 213

Question 13

What is the prognosis of Trisomy 18?

Answer 13

90% die within first year

pg. H 1200 E 213

Question 14

What are the classifications for Trisomy 18?

Answer 14

Rocker bottom feet*
Strawberry shape
Dolichocephaly
Diaphragmatic hernia
Esophageal atresia
Hydrocephalus
Choroid plexus cysts
Clenched hands/clinodactyly
pg. E 213

Question 15

What characteristics are the same in Trisomy 13, 18, 21?

Answer 15

Heart defects
Omphalocele
Cystic Hygroma
pg. E 213-214

Question 16

What is the term for Trisomy 21?

Answer 16

Down Syndrome

pg. E 214

Question 17

What is the most common chromosomal disorders?

Answer 17

Trisomy 21

pg. H 1198

Question 18

What are the characteristics of Trisomy 21?

Answer 18

Nuchal fold > 6mm
Brachycephaly
Sandal toe deformity
Hydrothorax
Echogenic foci in heart
Clinodactyly
Flattened nose
Duodenal atresia
pg. E 214

Question 19

What is another term for Turner’s syndrome?

Answer 19

Monosomy X

pg. E 214

Question 20

What is Turner’s syndrome?

Answer 20

complete or partial absence of the X chromosome

pg. E 214

Question 21

What gender can develop Turner’s?

Answer 21

female

pg. E 214

Question 22

What are the characteristics of turners?

Answer 22

Cystic hygroma
Lymphedema
Non-immune hydrops
Cardio defects
Renal agenesis
pg. E 214

Question 23

What is Beckwith-Weidmann syndrome?

Answer 23

Fetus with 3 characteristics present:
Omphalocele
Macrosomia
Macroglossia
pg. E 215

Question 24

What is the Pentalogy of Cantrell?

Answer 24

Congenital disorder with at least 2 of the following defects

1. Cleft distal sternum
2. Diaphragmatic
3. Omphalocele
4. Pericardium
5. Ectopia cordis
   pg. H 1335

Question 25

What is Meckel-Gruber syndrome?

Answer 25

``` Autosomal recessive condition with these 3 characteristics: Encephalocele Polydactyly Polycystic kidneys pg. E 215 H 1294 ```

Question 26

What is involved with the VACTERL association?

Answer 26

``` Vertebral anomalies Anal atresia Cardiac anomalies Tracheal atresia Esophageal atresia Renal anomalies Limb deformities pg. E 215 ```

Question 27

What are the characteristics of Fetal Alcohol Syndrome?

Answer 27

``` IUGR mental deficiency microcephaly microopthalmos cardiac septal defects genital anomalies pg. E 216 ```

Question 28

What is Holt-Oram Syndrome?

Answer 28

hereditary syndrome of malformations of heart and upper extremities pg. E 216

Question 29

What is Noonan syndrome?

Answer 29

``` Genetic disorder which includes: Facial anomalies Cardiac anomalies Lymphedema Cystic hygroma pg. E 216 ```

Question 30

What is Treacher-Collins syndrome?

Answer 30

``` autosomal dominant disorder that is associated with: small mandible micrognathia autosomal trisomy holoprosencephaly pg. E 216 ```

Question 31

What syndrome is highly associated with Amish?

Answer 31

Ellis-Van Creveld Syndrome | pg. E 216

Question 32

What are the characteristics of Ellis-Van Creveld Syndrome?

Answer 32

``` polydactyly narrow thorax limb shortening heart defects pg. E 216 ```

Question 33

What is another name for Ellis-Van Creveld syndrome?

Answer 33

Chondroectodermal dysplasia | pg. E 216

Question 34

What are radial ray anomalies associated with?

Answer 34

Trisomy 18 Holt Oram syndrome Amniotic band syndrome URR Exam

Question 35

What are the characteristics of Chiari II malformation?

Answer 35

Obliteration of cisterns magna Lemon sign Banana sign

Question 36

What type of twins is associated with "twin peak" sign?

Answer 36

Diamniotic/dichorionic