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jfng > Genetics Review - Final XLS in CSV form - Sheet1 > Flashcards

Genetics Review - Final XLS in CSV form - Sheet1 Flashcards

1
Q

What is the most common trisomy in abortuses?

A

Trisomy 16

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2
Q

What aneuploidy is seen with holoprosencephaly and midline facial defects?

A

Trisomy 13

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3
Q

Triple screen shows a normal AFP, normal HCG and a low E3. What condition is this associated with?

A

X-linked icthyoses and SLOS

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4
Q

What is the most common cause of CAH?

A

21 alpha hydroxylase deficiency

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5
Q

How do you treat the fetus is the mother has CAH?

A

Dexamthasone, starting at 7-8 weeks. To prevent virilization of female fetus

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6
Q

What karyotype is suggestive of uniparental disomy?

A

From any trisomy as a trisomic rescue
( i.e you have trisomy 13 on CVS, the fetus tries to save itself by losing chromosome 13 but loses the wrong one and gets a uniparental disomy)

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7
Q

Which maternal karyotype has the highest risk of Down syndrome?

A

21:21 Translocation (100% of live babies are T21, but of total gametes 50% would be monosomy 21)

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8
Q

What is the most common finding with Trisomy 21 on sono at 18-20 weeks?

A

Nuchal Fold

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9
Q

What is the most common finding of a term infant with Down syndrome?

  1. Simian crease
  2. Hypotonia
  3. LBW <2500gm
A

Hypotonia

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10
Q

Most common outcome if NT is increased?

A

Normal

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11
Q

What syndrome has coarctation of the aorta?

A

Turners

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12
Q

What condition with CF carries a poor prognosis?

A

Cor Pulmonale

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13
Q

Which syndrome has absent radius, polyhydramnios and hydronephrosis?

A

Thrombocytopenia absent radius (TAR) Syndrome

  • can have kidney, heart and thrombocytopenia with absent radius
  • both radii are missing but thumbs are present
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14
Q

Which is not related to non-disjunction in the mother?

  1. Turners
  2. Klienfelters
  3. XXX
A

Turners

The single X is maternal in origin in 70% of cases. Paternal is lost

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15
Q

Anomaly of what system is most commonly seen with diaphragmatic hernia ?

A

Cardiac

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16
Q

What is the risk of Down syndrome with a prior afected child?

A

1% or the age related risk, whichever is higher

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17
Q

Which condition is most likely associated with aneuploidy?

  1. Cardiac
  2. Omphalocele
A

Omphalocele

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18
Q

What pattern of inheritance is passed through maternal only?

A

Mitochondrial

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19
Q

Which maternal cardiac lesion is associated with the greatest fetal risk of transmission?

  1. AS
  2. MS
  3. VSD
  4. TOF
A

Aortic stenosis (15-18% risk of fetal transmission)
IHSS: 50%
Coarctation: 14%

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20
Q

Which condition is most likely to transmit to the fetus?

  1. ASD
  2. VSD
  3. Coarctation
  4. TOF
A

Coarctation

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21
Q

45XX, der(13,21)(q10q10) is associated with what?

A

Normal.

This is a balanced translocation on 13q;21q

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22
Q

What mechanisms result in uniparental disomy?

A

2 chromosomes inherited from one parent, trisomic rescue

Ex: Beckwith, Angelman, Prader-Willi

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23
Q

Amniotic fluid acetylcholinesterase is least helpful with what condition?

  1. Omphalocele
  2. Gastroschisis
  3. Congenital nephrosis
  4. Anencephaly
A

Congenital nephrosis

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24
Q

What should you do if cord insertion at 8 weeks is abnormal?

A

Repeat ultrasound because of physiologic herniation

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25
Q

Which situation is most likely to result in a fetus having T21?

  1. mom 45XX rob(14;21)
  2. dad 45XX rob(14:21)
A

Mom 10-15%

Dad: <5%

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26
Q 
Which of the following is not associated with AMA?
 T21
 T13
 T18
 45XO
A

45 XO

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27
Q

Which of the following is associated with coarctation of the aorta?

A

45 XO

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28
Q

As a class, what is the most common etiology for fetal malformations?

A

Genetic

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29
Q

Which karyotype is the result of a uniparental disomy?

A

A Trisomy - results in UPD from trisomic rescue

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30
Q

Fetus has cleft lip/palate, VSD, holoprosencephay. What is the most likely diagnosis?

A

T13

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31
Q

What is the most reliable ultrasound criteria for dating?

A

Cerebellum

Foot length

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32
Q

Which disease is AD and is associated with telengiectasia, ataxia, thrombocytopenia?

A

Osler Weber Rendu

33
Q 
Elevated AF Acetylcholinesterase is NOT associated with which of the following?
 Apalsia Cutis
 Omphalocele
 Anencephaly
 Encephalocele
 Congenital nephrosis
A

Congenital nephrosis

34
Q

What are the two AF molecules elevated with aplasia cutis?

A

AFP and Acetylcholinesterase

- elevated with all open wall defects

35
Q

Choroid plexus cysts are most commonly associated with which aneuploidy?

  1. T21
  2. T13
  3. T18
A

T18

30-50% of T18 have CPC

36
Q

Multiple intraabdominal echogenecities are least associated with which condition?

  1. CF
  2. Aneuploidy
  3. Toro
  4. Parvo
  5. Meconium peritonitis
A

Parvo

37
Q

Which of the following syndromes is caused by uniparental disomy?

A

Angelman
Beckwith
Prader- Willi

38
Q

CVS cannot diagnose which conditions?

A

NTD

Fragile X

39
Q

Early amniocentesis at 14 weeks is associated with?

A

It is associated with: fetal loss, club foot, failed procedure, PROM

40
Q

What is the sensitivity of Quad screen in detecting T21 in a patient <35 years?

A

75%

41
Q

Patient has a fetus with T21, what is the risk of recurrence?

A

1%, or age related risk whichever is higher

42
Q

Fragile X inheritance is associated with what number of repeats? What are the repeat letters?

A

> 200

43
Q

What would be the pattern on QUAD screen of a fetus with Down syndrome?

A

High: HCG & Inhibin

Low: Estriol, AFP

44
Q

Which anomaly is associated with the highest risk of aneuploidy?

  1. Omphalocele
  2. Cardiac defects
  3. Gastroschisis
A

Omphalocele

45
Q

What is the most common reason for birth defects?

A

Genetic

46
Q

What is the most common genetic cause of mental retardation?

A

Fragile X

47
Q

Karyotype shows 45XX t(14;21). What is the phenotype?

A

Normal

Balanced translocation

48
Q

Holoprosencephaly is most commonly associated with which of the following chromosomal abnormalities?

A

Trisomy 13

49
Q 
Ultrasound findings would increase the risk of Down syndrome, except: 
 Duodenal atresia
 Increased Nuchal Fold
 Cardiac anomaly
 Short femur
 Sandal gap
A

Sandal gap

50
Q

What is the most common non-infectious, non-genetic cause of MR?

A

Fetal alcohol syndrome

51
Q 
All of the following US findings would be present in a fetus with a neural tube defect EXCEPT:
 Small cisterna
 Scalloped cerebellum
 Incavatated cranium
 Ventrculomegaly
 Increased BPD
A

Increased BPD

52
Q

What is the best treatment for in utero CAH?

A

Dexamthasone, starting at 7-8 weeks. To prevent virilization of female fetus

53
Q

Which chromosomal abnormality is not increased in offspring of AMA females?

A

Turner Syndrome

54
Q 
Which malfomation has the greatest risk of underlying aneuploidy?
 CHD
 Gastroschesis
 Omphalocele
 Clubbed foot
A

Omphalocele

55
Q 
What causes virilization of a female fetus?
 Luteoma of pregnancy
 Cystadenoma
 Prolactinoma
 OCPs
A

Luteoma of pregnancy

56
Q

What is associated with fetal abdominal calcifications?

A

CMV

57
Q

Which syndrome is associated with fetal thrombocytopenia?

  1. Absent radius
  2. Gestational thrombocytopenia
  3. Erythroblastosis fetalis
  4. Bernard Soulier syndrome
A

TAR Syndrome - Thrombocytopenia, Abset radius syndrome (but thumb present)
Which can also pretsent with Kidney or Heart issues

58
Q

What is associated with pancytopneia and absent radius?

A

Fanconi’s anemia

59
Q

Gaucher’s disease is a disorder of:

A

Glucocerebrosidase

60
Q

What type of inheritence is associated wuth Leber’s optic atrophy?

A

Mitochondrial

61
Q 
Which disorder is associated with UPD?
 Cri du chat
 Williams
 Prader Willi
 Hydantoin
A

Prader Willi

62
Q 
All of the following diseases are associated with DNA repeats except:
 Fragile X
 Huntington's 
 CF
 Myotonic Dystrophy
A 
Cystic Fibrosis 
 Repeats:
 FraGile X (CGG)
 Huntingtons (CAG)
 MyoTonic Dystrophy (CTG)
63
Q

A normal woman has a homozygoous 21/21 translocation. What percent of her offspring will have Down syndrome?

A

100%

64
Q

A normal woman has a homozygoous 21/21 translocation. What percent of her conceptuses will have monosomy 21?

A

50%

65
Q

What percent of omphaloceles will have a chromosomal aneuploidy?

A

30 - 40%

66
Q

Duodenal atresia is associated with what other findings?

A

Polyhydramnios

67
Q

Aneuploidy with duodenum abnormality?

A

T21 in 30%

68
Q

What are the causes of non-immune hydrops?

A 
Idiopathic
 Cardiovascular
 Chromosomal - Turners
 Infections
 CCAM, Sacrococcygeal teratoma
69
Q

Increased nuchal fold is associated the most with what aneploidy?

A

T21

70
Q

NTD is associated with what intercranial findings?

A

Banana sign
Lemon sign
Ventriculomegaly
Small cisterna magna

71
Q

What cardiac anomaly cannot be identified with 4 chamber view ?

A

TGA
Coarctation
VSD

72
Q

What is the best megahertz to assess abdominal circumference at 20 weeks?

A

3.5 mHz

73
Q

What are the ultrasound findings of holoprosencephaly?

A

Single ventricle

Absent corpus callosum

74
Q

Doppler studies reflect what parameter?

A

Velocity

75
Q

What is the preferred mode of delivery for Omphalocele?

A

Vaginal unless >5cm or liver is out

76
Q

What is the management hydrocephaly?

A

US, infectious and genetic workup

77
Q 
Which of the following is the LEAST likely diagnosis with micromelia and hypocalcification of the skull are seen or ultrasound?
 OI
 Achondrogenesis
 Hypophosphatemia
 Thanatophoric dysplasia
A

Thanatophoric dysplasia

78
Q

What is the most common associated anomaly with single umbilical artery?

A

Cardiac defects

79
Q

Mom presents with acute chest syndrome due to HbSS. Dad not tested. But carrier rate is 1/12. What is the risk of an affected fetus?

A

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jfng (9 decks)

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