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JFNG Subjects > 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
Which situation is most likely to result in a fetus having T21? 1. mom 45XX rob(14;21) 2. dad 45XX rob(14:21)
Mom 10-15% | Dad: <5%
26
``` Which of the following is not associated with AMA? T21 T13 T18 45XO ```
45 XO
27
Which of the following is associated with coarctation of the aorta?
45 XO
28
As a class, what is the most common etiology for fetal malformations?
Genetic
29
Which karyotype is the result of a uniparental disomy?
A Trisomy - results in UPD from trisomic rescue
30
Fetus has cleft lip/palate, VSD, holoprosencephay. What is the most likely diagnosis?
T13
31
What is the most reliable ultrasound criteria for dating?
Cerebellum | Foot length
32
Which disease is AD and is associated with telengiectasia, ataxia, thrombocytopenia?
Osler Weber Rendu
33
``` Elevated AF Acetylcholinesterase is NOT associated with which of the following? Apalsia Cutis Omphalocele Anencephaly Encephalocele Congenital nephrosis ```
Congenital nephrosis
34
What are the two AF molecules elevated with aplasia cutis?
AFP and Acetylcholinesterase | - elevated with all open wall defects
35
Choroid plexus cysts are most commonly associated with which aneuploidy? 1. T21 2. T13 3. T18
T18 | 30-50% of T18 have CPC
36
Multiple intraabdominal echogenecities are least associated with which condition? 1. CF 2. Aneuploidy 3. Toro 4. Parvo 5. Meconium peritonitis
Parvo
37
Which of the following syndromes is caused by uniparental disomy?
Angelman Beckwith Prader- Willi
38
CVS cannot diagnose which conditions?
NTD | Fragile X
39
Early amniocentesis at 14 weeks is associated with?
It is associated with: fetal loss, club foot, failed procedure, PROM
40
What is the sensitivity of Quad screen in detecting T21 in a patient <35 years?
75%
41
Patient has a fetus with T21, what is the risk of recurrence?
1%, or age related risk whichever is higher
42
Fragile X inheritance is associated with what number of repeats? What are the repeat letters?
>200
43
What would be the pattern on QUAD screen of a fetus with Down syndrome?
High: HCG & Inhibin | Low: Estriol, AFP
44
Which anomaly is associated with the highest risk of aneuploidy? 1. Omphalocele 2. Cardiac defects 3. Gastroschisis
Omphalocele
45
What is the most common reason for birth defects?
Genetic
46
What is the most common genetic cause of mental retardation?
Fragile X
47
Karyotype shows 45XX t(14;21). What is the phenotype?
Normal | Balanced translocation
48
Holoprosencephaly is most commonly associated with which of the following chromosomal abnormalities?
Trisomy 13
49
``` Ultrasound findings would increase the risk of Down syndrome, except: Duodenal atresia Increased Nuchal Fold Cardiac anomaly Short femur Sandal gap ```
Sandal gap
50
What is the most common non-infectious, non-genetic cause of MR?
Fetal alcohol syndrome
51
``` 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 ```
Increased BPD
52
What is the best treatment for in utero CAH?
Dexamthasone, starting at 7-8 weeks. To prevent virilization of female fetus
53
Which chromosomal abnormality is not increased in offspring of AMA females?
Turner Syndrome
54
``` Which malfomation has the greatest risk of underlying aneuploidy? CHD Gastroschesis Omphalocele Clubbed foot ```
Omphalocele
55
``` What causes virilization of a female fetus? Luteoma of pregnancy Cystadenoma Prolactinoma OCPs ```
Luteoma of pregnancy
56
What is associated with fetal abdominal calcifications?
CMV
57
Which syndrome is associated with fetal thrombocytopenia? 1. Absent radius 2. Gestational thrombocytopenia 3. Erythroblastosis fetalis 4. Bernard Soulier syndrome
TAR Syndrome - Thrombocytopenia, Abset radius syndrome (but thumb present) Which can also pretsent with Kidney or Heart issues
58
What is associated with pancytopneia and absent radius?
Fanconi's anemia
59
Gaucher's disease is a disorder of:
Glucocerebrosidase
60
What type of inheritence is associated wuth Leber's optic atrophy?
Mitochondrial
61
``` Which disorder is associated with UPD? Cri du chat Williams Prader Willi Hydantoin ```
Prader Willi
62
``` All of the following diseases are associated with DNA repeats except: Fragile X Huntington's CF Myotonic Dystrophy ```
``` Cystic Fibrosis Repeats: FraGile X (CGG) Huntingtons (CAG) MyoTonic Dystrophy (CTG) ```
63
A normal woman has a homozygoous 21/21 translocation. What percent of her offspring will have Down syndrome?
100%
64
A normal woman has a homozygoous 21/21 translocation. What percent of her conceptuses will have monosomy 21?
50%
65
What percent of omphaloceles will have a chromosomal aneuploidy?
30 - 40%
66
Duodenal atresia is associated with what other findings?
Polyhydramnios
67
Aneuploidy with duodenum abnormality?
T21 in 30%
68
What are the causes of non-immune hydrops?
``` Idiopathic Cardiovascular Chromosomal - Turners Infections CCAM, Sacrococcygeal teratoma ```
69
Increased nuchal fold is associated the most with what aneploidy?
T21
70
NTD is associated with what intercranial findings?
Banana sign Lemon sign Ventriculomegaly Small cisterna magna
71
What cardiac anomaly cannot be identified with 4 chamber view ?
TGA Coarctation VSD
72
What is the best megahertz to assess abdominal circumference at 20 weeks?
3.5 mHz
73
What are the ultrasound findings of holoprosencephaly?
Single ventricle | Absent corpus callosum
74
Doppler studies reflect what parameter?
Velocity
75
What is the preferred mode of delivery for Omphalocele?
Vaginal unless >5cm or liver is out
76
What is the management hydrocephaly?
US, infectious and genetic workup
77
``` 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 ```
Thanatophoric dysplasia
78
What is the most common associated anomaly with single umbilical artery?
Cardiac defects
79
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?
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JFNG Subjects (2 decks)

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