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OB/GYN REVIEW > Fetal Syndromes > Flashcards

Fetal Syndromes Flashcards

1
Q

What is a sequence?

A

single defect leading to development of other defects

pg. E 212

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2
Q

What is a syndrome?

A

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

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3
Q

What is an association?

A

nonrandom occurence of 2+ defects

pg. E 212

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4
Q

What is amniotic band syndrome?

A

ruptured amnion sticks and entangles fetal parts

pg. E 212

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5
Q

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

A

limb-body wall complex

pg. E 212

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6
Q

What is limb-body wall complex?

A

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

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7
Q

What defects are associated with amniotic band syndrome?

A 
abdominal wall defects
clubfeet
ectopia cordis
encephalocele
extremity amputations
facial clefts
facial dysmorphia
pg. E 212
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8
Q

What are the sonographic findings of amniotic band syndrome?

A

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

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9
Q

What is another name for Trisomy 13?

A

Patau syndrome

pg. E 213 O 402

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10
Q

What is the prognosis for Trisomy 13?

A

poor, 85 % die w/in first year

pg. E 213

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11
Q

What are the classifications for Trisomy 13?

A 
Holoprosencephaly*
Agenesis of the corpus callosum
Microcephaly
Cleft lip/palate
Club foot
Polydactyly
IUGR
Omphalocele
Single umbilical artery
Renal anomalies
pg. E 213
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12
Q

What is another name for Trisomy 18?

A

Edward’s syndrome

pg. E 213

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13
Q

What is the prognosis of Trisomy 18?

A

90% die within first year

pg. H 1200 E 213

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14
Q

What are the classifications for Trisomy 18?

A 
Rocker bottom feet*
Strawberry shape
Dolichocephaly
Diaphragmatic hernia
Esophageal atresia
Hydrocephalus
Choroid plexus cysts
Clenched hands/clinodactyly
pg. E 213
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15
Q

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

A

Heart defects
Omphalocele
Cystic Hygroma
pg. E 213-214

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16
Q

What is the term for Trisomy 21?

A

Down Syndrome

pg. E 214

17
Q

What is the most common chromosomal disorders?

A

Trisomy 21

pg. H 1198

18
Q

What are the characteristics of Trisomy 21?

A 
Nuchal fold > 6mm
Brachycephaly
Sandal toe deformity
Hydrothorax
Echogenic foci in heart
Clinodactyly
Flattened nose
Duodenal atresia
pg. E 214
19
Q

What is another term for Turner’s syndrome?

A

Monosomy X

pg. E 214

20
Q

What is Turner’s syndrome?

A

complete or partial absence of the X chromosome

pg. E 214

21
Q

What gender can develop Turner’s?

A

female

pg. E 214

22
Q

What are the characteristics of turners?

A 
Cystic hygroma
Lymphedema
Non-immune hydrops
Cardio defects
Renal agenesis
pg. E 214
23
Q

What is Beckwith-Weidmann syndrome?

A 
Fetus with 3 characteristics present:
Omphalocele
Macrosomia
Macroglossia
pg. E 215
24
Q

What is the Pentalogy of Cantrell?

A

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
25
Q

What is Meckel-Gruber syndrome?

A 
Autosomal recessive condition with these 3 characteristics:
Encephalocele
Polydactyly
Polycystic kidneys
pg. E 215 H 1294
26
Q

What is involved with the VACTERL association?

A 
Vertebral anomalies
Anal atresia
Cardiac anomalies
Tracheal atresia
Esophageal atresia
Renal anomalies
Limb deformities
pg. E 215
27
Q

What are the characteristics of Fetal Alcohol Syndrome?

A 
IUGR
mental deficiency
microcephaly
microopthalmos
cardiac septal defects
genital anomalies
pg. E 216
28
Q

What is Holt-Oram Syndrome?

A

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

29
Q

What is Noonan syndrome?

A 
Genetic disorder which includes:
Facial anomalies
Cardiac anomalies
Lymphedema
Cystic hygroma
pg. E 216
30
Q

What is Treacher-Collins syndrome?

A 
autosomal dominant disorder that is associated with:
small mandible
micrognathia
autosomal trisomy
holoprosencephaly
pg. E 216
31
Q

What syndrome is highly associated with Amish?

A

Ellis-Van Creveld Syndrome

pg. E 216

32
Q

What are the characteristics of Ellis-Van Creveld Syndrome?

A 
polydactyly
narrow thorax
limb shortening
heart defects
pg. E 216
33
Q

What is another name for Ellis-Van Creveld syndrome?

A

Chondroectodermal dysplasia

pg. E 216

34
Q

What are radial ray anomalies associated with?

A

Trisomy 18
Holt Oram syndrome
Amniotic band syndrome
URR Exam

35
Q

What are the characteristics of Chiari II malformation?

A

Obliteration of cisterns magna
Lemon sign
Banana sign

36
Q

What type of twins is associated with “twin peak” sign?

A

Diamniotic/dichorionic

OB/GYN REVIEW (16 decks)

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