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OB/GYN Scanning > Fetal Syndromes > Flashcards

Fetal Syndromes Flashcards

1
Q

This is a single defect leading to the development of other defect.

A

sequence

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2
Q

This is the presence of two or more embryologically unrelated anomalies occurring together.

A

syndrome

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3
Q

This is a non-random occurrence of two or more defects occurring less frequently than a syndrome but more frequently than chance alone.

A

association

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4
Q

This is a rare condition caused by strands of amniotic sac restrict tissue growth.

A

amniotic band syndrome

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5
Q

T/F? Amniotic bands are non-stretchable.

A

true

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6
Q

Amniotic Band Syndrome causes limb defects like…

A
  1. amputations
  2. constrictions
  3. clubfeet
  4. pseudosyndactyly
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7
Q

Amniotic Band Syndrome causes craniofacial defects like…

A
  1. asymmetric anencephaly
  2. encephalocele
  3. facial clefting
  4. severe facial dysmorphia
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8
Q

What sort of defects does amniotic band syndrome cause?

A
  1. limb defects
  2. craniofacial defects
  3. visceral defects
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9
Q

Sonographically, ABS appears as…

A

echogenic linear structure attached to the fetus and two or more deformities/defects

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10
Q

This is a condition where two or more digits are fused together.

A

syndactyly

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11
Q

T/F? 85% of Patau’s syndrome cases die before 1 yr old.

A

true

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12
Q

Sonographically, Patau’s syndrome will present with …

A
  1. holoprosencephaly**
  2. IUGR
  3. Polyhydramnios (20+ cm)
  4. corpus callosum agenesis
  5. microgathia
  6. cleft lip/palate
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13
Q

Patau’s sometimes presents with these congenital abnormalities…

A
  1. omphalocele
  2. heart issues
  3. polycystic kidneys
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14
Q

T/F? The prognosis for ABS cases is usually pretty bad.

A

FALSE, not necessarily

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15
Q

T/F? The prognosis for Patau’s is usually pretty bad.

A

true

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16
Q

Sonographically, Edward’s presents with…

A
  1. Clinodactyly **
  2. IUGR
  3. polyhydramnios
  4. heart issues
  5. micrognathia
  6. prominent occiput
  7. dandy walker
  8. limb malformations
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17
Q

Edward’s sometimes presents with these congenital abnormalities…

A
  1. diaphragmatic hernia
  2. omphalocele
  3. hydronephrosis
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18
Q

Sonographically, Down’s presents with…

A
  1. NUCHAL FOLD THICKNESS!!
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19
Q

A ‘thick’ nuchal fold measures __ between __ weeks.

A

greater than 6 mm, 15-21

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20
Q

Down’s sometimes presents with these congenital abnormalities…

A
  1. cystic hygroma
  2. mild ventriculomegaly
  3. heart issues
  4. duodenal atresia
  5. diaphragmatic hernia
  6. renal pyelectasis
  7. echogenic bowel
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21
Q

Turner’s syndrome is also known as…

A

XO karyotype, Bonnevie-Ullrich, gonadal dysgenesis, monosomy X.

22
Q

Turner’s sometimes presents with these symptoms…

A
  1. short stature
  2. webbed neck
  3. absent or reduced sexual characteristics
  4. absence of menstruation
23
Q

T/F? Turner’s cases are mentally limited.

A

FALSE, normal

24
Q

T/F? Patau’s cases are born with swollen hands and feet.

A

FALSE, Turner’s

25
Q

Other pathology associated with Turner’s?

A
  1. cystic hygroma
  2. heart issues
  3. horseshoe kidneys
  4. unilateral renal agenesis
26
Q

Treatment for Turner’s?

A

HRT

27
Q

Kleebattschadel syndrome is also known as…

A

craniosynostosis or cloverleaf skull

28
Q

This is a condition in which the infant skull fuses prematurely, restricting brain growth.

A

cloverleaf

29
Q

Other physical signs that come with cloverleaf are…

A
  1. bulging eyes
  2. beaked nose
  3. lowered ears
30
Q

This is a hereditary syndrome of malformations to the heart and upper extremities.

A

Holt-Oram Syndrome

31
Q

The most common heart defects in HOS patients are…

A

ASD and VSD.

32
Q

This is an umbrella term describing the range of effects that occur in a person whose mother consumed alcohol in pregnancy.

A

FAS

33
Q

T/F? FAS is less common in binge drinkers.

A

FALSE, more

34
Q

Sonographically, FAS presents with…

A
  1. IUGR
  2. mental limitations
  3. microcephaly
  4. microphthalmos
  5. short metacarpals
  6. heart issues
  7. genital anomalies
35
Q

Beckwith-Wiedemann Syndrome is also known as…

A

EMG syndrome.

36
Q

EMG syndrome stands for..

A

Exomphalos, macroglossia**, gigantism

37
Q

The most typical findings for EMG include…

A
  1. macrosomia
  2. polyhydramnios
  3. enlarged placenta
  4. distended abdomen
38
Q

EMG might also present with these congenital abnormalities…

A
  1. heart issues
  2. placental chorioangiomas
  3. wilm’s tumors
  4. microencphaly
  5. umbilical hernia
  6. ear-lobe groove
  7. omphalocele
39
Q

T/F? The prognosis for EMG cases is generally bad.

A

Maybe. Depends on whether or not they succumb to CHF in their first year.

40
Q

Pentalogy of Cantrell is associated with these two major defects…

A
  1. omphalocele

2. ectopia cordis

41
Q

Meckel-Gruber Syndrome is associated with these three major defects…

A
  1. occipital encephalocele
  2. large polycystic kidneys
  3. postaxial polydactyly
42
Q

Treacher-Collins syndrome is also known as…

A

mandibulofacial dysotosis.

43
Q

This condition effects the size and shape of the ears, cheek bones, and upper and lower jaws.

A

Treacher-Collins

44
Q

T/F? Treacher-Collins is the result of an autosomal recessive gene.

A

FALSE, dominant

45
Q

Treacher-Collins is associate in particular with what two traits?

A
  1. receding chin

2. heart defects

46
Q

Ellis-Van Creveld Syndrome is also known as…

A

chondrodermal dysplasia.

47
Q

This form of dwarfism is most prevalent among the Amish.

A

Ellis-Van Creveld Syndrome

48
Q

Ellis-Van Creveld is associated with what pathology?

A
  1. polydactyly
  2. thoracic dysplasia
  3. limb shortening
  4. heart issues
49
Q

T/F? The prognosis for Ellis-Van Creveld syndrome is generally good.

A

true, if they don’t succumb to respiratory and heart defects in the first few months

50
Q

What’s VACTERL stand for?

A 
Vertebral anomalies
Anal atresia
Cardiac anomalies
Trachea atresia
Esophageal atresia
Renal/Radial anomalies
Limb anomalies
51
Q

Vertebral anomalies usually consist of __ vertebrae.

A

small or half-formed

52
Q

Anal atresia is also known as…

A

imperforate anus.

OB/GYN Scanning (14 decks)

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