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MFM Written Boards > Fetal Genetic, Metabolic, Drug Exposures > Flashcards

Fetal Genetic, Metabolic, Drug Exposures Flashcards

1
Q

Advanced paternal age

A
  • Autosomal dominant (achondroplasia; Apert, Waardenburg, Crouzon, Pfeiffer, and Marfan syndromes; Neurofibromatosis; Osteogenesis imperfecta)
  • Microdeletions
  • More copy number variants
  • X-linked (“grandfather effect” more de novo spontaneous germline mutations in X’s there but daughters unaffected and instead affects daughter’s male offspring)
  • Aneuploidy —— sooooooome effect but nothing like mom. Why not? Aneuploid sperm not likely to be the one that wins out at fertilizing the egg
    • Nonetheless slight assoc in Tri21 and Klinefelter’s
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2
Q

Microarray misses

A
  • Balanced rearrangements
  • Translocations / inversions
  • Single gene mutations
  • Uncommon ethnicity combinations? (Don’t know what that note meant)
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3
Q

Genetic heterogeneity vs pleitropy

A

More than one gene causes same phenotype
VS
Single gene causes multiple phenotypic expressions

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4
Q

Mitochondrial inheritance

A
  • Leber’s Hereditary Optic Neuropathy
  • Leigh Syndrome
  • Myoclonic epilepsy with ragged red fibers
  • Pigmentary retinopathy
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5
Q

Repeat diseases

A
  • Fragile X
  • Huntington’s
  • Myotonic dystrophy
  • Friedrich Ataxia
  • X-linked spinal/bulbar muscular atrophy (Kennedy Disease)
  • Machado-Joseph
  • Spino-cerebellar ataxia
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6
Q

Trisomy 21; how many extra chromosome vs robertsonian vs mosaic

A

95% trisomy, 4% robertsonian, 2% mosaic

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7
Q

Deformation vs sequence vs association vs syndrome vs disruption

A
  • Deformation
    • Genes: normal
    • Environment: abnormal
  • Sequence
    • One insult => everything
  • Association
    • Anomalies occur together, but don’t know why
  • Syndrome
  • Disruption
    • Specific insult to genetically normal tissue
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8
Q

Prader Willi

  • 15 is maternally / paternally imprinted?
  • Due to maternal / paternal UPD?
  • Genetic material that is present is entirely maternal / paternal?
  • % due to UPD vs due to deletion?
A

Maternally imprinted
Maternal UPD
Maternal is all that’s present

Only 20-30% actually UPD; most of the time just a big deletion on the paternal chromosome 15.

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9
Q

Angelman

  • 15 is maternally / paternally imprinted?
  • Due to maternal / paternal UPD?
  • Genetic material that is present is entirely maternal / paternal?
  • % due to UPD vs due to deletion?
A

Paternally imprinted
Paternal UPD
Paternal is all that’s present

Only 5% actually UPD; most of the time just a big deletion on the maternal chromosome 15.

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10
Q

CF carrier frequency. Highest (and how much)? Lowest (and how much)?

A

Europeans and Ashk Jewish 1/25. Asian 1/90.

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11
Q

Residual CF risk after negative result. Highest and lowest?

A

S Europeans 1/80 still. Lowest Ashk Jewish 1/833! (Middle of the road N Euro 1/240)

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12
Q

Detection rates Trisomy 21 by screen

A 
1st tri serum
60%
NT only
66%
1st tri combo
82%
2nd tri serum
81%
Serum integrated
86%
FULL integrated (report only after ALL done)
95%
Stepwise sequential (offer dx for 1st tri >1:50)
95%
Contingent sequential (High/Intermed/Low)
92%
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13
Q

Trisomy 18 detection rate

A

90% with 1st tri screen

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14
Q 
Enzyme deficiency
Canavan
Gaucher
Neimann Pick
Tay-Sachs
...plus which one's treatable?
A

Metabolic Disorder Mnemonics

  • Pick my Nose with my Sphinger!
  • tAy sachs = beta hex A
  • Gaucher = Glucocerebrosidase which can be Grown (in a lab)
  • CanAAvan = AspartoAcylase
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15
Q

Williams

  • Facies description
  • CV finding
A
  • Microdeletion 7q11.23
  • Broad forehead, short nose, broad full cheeks, wide mouth full lips
  • CV problems: supra-valvular aortic stenosis
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16
Q

Osler-Weber-Rendu

A

telangiectasia, epistaxis, AV malformations

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17
Q

Treacher-Collins

A

Mandibulofacial dysostosis + EARS

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18
Q

Myotonic dystrophy

A
  • Also a repeat issue (CTG)
  • LOW penetrance
  • Fetus: POLYHYDRAMNIOS. Myotonia is absent in congenital form. Talipes also common.
  • Mom: PTB, prolonged labor. Poor voluntary assistance 2nd stage.
  • AVOID DEPOLARIZING MUSCLE RELAXANTS
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19
Q

Thrombocytopenia Absent Radii (TAR) syndrome

- Inheritance?

A

AutoR

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20
Q

Pentalogy of Cantrell

A
  • (speak in CODES mnemonic)
    • Cardiovascular Malformations
    • Omphalocele
    • Diaphragmatic defect
    • Ectopia cordis
    • Sternal defect
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21
Q

Bilateral polycystic kidney disease

- Differences adult vs juvenile?

A
  • ADPKD (adult form) 100% penetrance, but rarely visible on fetal U/S
  • Assoc with chromosomal abnormalities
  • Autosomal recessive
  • Infantile form = Hyperechoic kidneys
22
Q

What % Tri13 w/ holopros?

23
Q

SLO findings

A
  • AutoR
  • IUGR
  • Poly/syndactyly (esp 2-3)
  • Holoprosencephaly
  • Ambiguous genitalia
  • Steroid defect (elevated 7-DHC in amnio
24
Q

Mechanism Klinefelter’s

A

NDJ of maternal/paternal origin. 50/50!

25
47 XYY. Origin and phenotype
normal phenotype, but tall / low/normal IQ 100% paternal Meiosis 2
26
MC cardiac findings 22q11
* Interrupted Aortic Arch * TA * TOF * ASD/VSD * Vascular rings
27
Thick NF limits?
< 5 mm before 20 weeks and < 6 mm into 23 weeks
28
Highest LR soft markers
Ventriculomegaly NF Absent NB ARSA
29
Major Tri21 markers
* AV malformation, VSD, TOF * Duodenal atresia * Cystic hygroma (1st trimester) * Hydrops
30
Major Tri18 markers
* AV malformation, SVD, DORV * Meningomyelocele * Omphalocele, esophageal atresia * Rocker bottom feet * Cleft lip/palate * Cystic hygroma, hydrops
31
ASD and genetics?
* ASD usually isolated but assoc w/ Holt-Oram, Noonan, Treacher Collins
32
TOF and genetics?
* TOF with syndromes in 15% (Trisomy 21, Alagille, DiGeorge)
33
Coarctation and genetics?
* Coarctation strongest assoc = Monosomy X (3-10% of Monosomy X w/ coarctation) and 9% recurrence
34
Which Trisomy highest risk cardiac defects?
* Trisomy 18 > 13 (80-90%) > 21 (40%)
35
What % AV canal have aneuploidy? What additional finding being present markedly reduces this?
73%. Heterotaxy.
36
Risk of aneuploidy with CHD?
5-10%
37
Risk of aneuploidy with omphalocele?
30%
38
MCC complication MSAFP
IUGR
39
What maternal ingestion => low estriol?
Corticosteroids. Steroids suppress ACTH of maternal & fetal pituitary. Maternal/fetal pituitary make less DHEA-S => less estrogen precursors.
40
Autism spectrum genetic etiologies
* TS * Fragile X * Angelman
41
CDH associations
* Congenital diaphragmatic hernia * Exstrophy of cloaca sequence * Sirenomelia sequence * VATER (VACTERL) association
42
Hydantoin syndrome
* Microcephaly, IUGR * Craniofacial * Limb * Fingernail hypoplasia * Cardiac defects
43
Warfarin syndrome
no post translational carboxylation of osteocalcin => poor bone mineralization/maturation
44
Isotretinoin
* Most common: microtia. * Most frequent cardiac = conotruncal / outflow * Most common CNS: hydrocephalus * + Thymus hypo/aplasia
45
Which paternal exposures => adverse effect?
mercury, Lead, hydrocarbons, pesticides, anesthetic gases
46
Smoking fetal anomaly association?
Cleft lip/palate among those w/ Transforming Growth Factor gene
47
Benzodiazepines fetal effect?
* Gasping syndrome: metabolic acidosis, respiratory distress, CNS dysfunction, hypoTN * Hypoglycemia
48
* Medication effects on FHR * Epidural * CSE * Narcotics * Stadol * Morphine * Nubaine * Cocaine * Steroids * Magnesium * Terbutaline * Zidovudine
* Medication effects on FHR * Epidural: transient hypoTN effects * CSE: more bradycardia / crash CD * Narcotics: variability, accelerations * Stadol: transient sinustadol! * Morphine: reduced breathing, accelerations * Nubaine: reduced accelerations * Cocaine: reduced variability * Steroids: reduced variability, (?) accels * Magnesium: variability * Terbutaline: increase baseline/tachy * Zidovudine: no change
49
Cyclophosphamide teratogen effect
* MC finding: hypoplastic / absent digits | * Cleft, microcephaly, SUA, imperforate anus, IUGR
50
ACE-I teratogen effect
* Hypotension/hypoperfusion =>renal ischemia / anuria / Potter! * “ACE fetopathy"
51
Radiation effect on fetus
* First trimester: microcephaly, MR, IUGR | * Late pregnancy: Carcinogenesis

MFM Written Boards (9 decks)

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