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Syndromes > Dysmorphology, etc > Flashcards

Dysmorphology, etc Flashcards

1
Q

cleft lip/palate - what percent will have syndrome?

A

about one third.

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2
Q

primary anomaly example

A

clefts

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3
Q

deformation

    • primary or secondary?
    • examples?
A

SECONDARY
Compression or biomechanical distortion of an already normally formed body part which usually occurs after 8 – 10 fetal weeks

plagiocephaly
club feet
contractures
dislocations

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4
Q

disruption

    • primary or secondary?
    • examples?
A

SECONDARY
Compression / biomechanical distortion of an already formed (or to be formed) normal body part to such an extreme that the resulting defect looks like an anomaly

Ex: oligodactyly due to amniotic bands, cleft palate due to glossoptosis; web neck due to nuchal edema

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5
Q

Blastogenic defects

– examples?

A

very early defect in embryogenesis during which time the embryo is acquiring craniocaudal, dorsoventral, and left-right axes

affects midline formation and lateralization

Associated with increased abortions, twinning and lethality
Genetic basis rare, low recurrence risk

conjoined twins, acardia-acephalus, situs inversus/poly-asplenia, bladder extrophy, sacral defects / tumors

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6
Q

major anomaly

A

Basic alteration in embryological development severe enough to require intervention and which potentially has a long-term impact medically and/or psychologically

Ex: spina bifida, omphalocele (40% syndromic), bilateral cleft lip/palate, anopthalmia

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7
Q

minor anomaly

A

Basic alteration in embrylogical and/or fetal development which requires no treatment or can be, more or less, corrected

Ex: postaxial polydactyly, absent digital flexion creases, low-set ears, preauricular tag

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8
Q

multiple congenital anomalies

A
  • two or more
    structural primary defects in two or more areas,
    or embryologically diff. areas.
  • usually associated with recognizable syndrome

Examples: ectrodactyly-ectodermal-clefting
(EEC) syndrome;
oral-facial-digital (OFD) syndrome

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9
Q

syndrome

A

Recurring pattern of structural defects and/or secondary effects/defects that allow for secure recognition

Combination of features most likely represents a specific etiology

Example: SC-Pseudothalidomide / Roberts syndrome

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10
Q

Potter syndrome

- recurrence risk

A
  • recurrence risk low
  • oligohydramnios -> pulmonary hypoplasia -> joint contractures -> abn ear cartilage -> lower inner eye folds -> prominent nasal tip

can also be part of a syndrome.

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11
Q

Pierre Robin sequence

- recurrence risk

A
  • recurrence risk is low
  • micrognathia -> glossoptosis -> CLEFT PALATE -> low-set ears

glossoptosis = downward movement/displacement of tongue, can cause cleft palate.

PR can also be part of syndrome.

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12
Q

Amniotic band sequence

- recurrence risk

A
  • recurrence risk is low

- bands –> constrictions –> fusions –> amputations –>CLEFT LIP/PALATE –> OMPHALOCELE

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13
Q

spondylo-

A

affecting the spine

e.g., spondyloepiphyseal dysplasia (bone issue)

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14
Q

rhizomelic -

A

affecting PROXIMAL bone

(rhizome = root ) ; root of arm

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15
Q

bone dysplasias - recurrence risk?

A

Almost always associated with disproportionate short stature and is usually genetic

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16
Q

bone dysostosis -

A

Localized defect of bone which does
not necessarily involve the physes

Often unilateral but can be midline

Examples: Klippel-Feil (fused cervical vertebrae), ulna-mammary syndrome, proximal femoral hypoplasia

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17
Q

disorganization

A

A situation where there is the presence of an extraordinary variety of unusual anomalies which defy embryologic patterns:
Ex: limbs/digits attached to non-joint areas, skin appendages in unusual locations, duplication of limbs/digits

–unknown etiology.

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18
Q

Noonan - gene?

A

PTPN 11 (controls SHP-2)

pulmonary stenosis
but not much HCM

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19
Q

Zellweger

A

recessive

Usually associated with increased VLCFA

severe hypotonia / early death
large anterior fontanel, increased lateral and anterior NECK FAT (double chin), narrow palpebral fissures, prominent upslanted eyes, cataracts, club feet, stippled epiphyses

1 in 20k - 100k

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20
Q

Russel-Silver

A

many jockeys have it (horse jockeys are tiny)

UPD 7 ; paternally imprinted

10% maternal uniparental disomy for chromosome 7; some have hpomethylation of H19 gene at 11p15

Proportionate pre-/postnatal growth def. (wt and ht) with usually low-normal head circ.

Features: triangular face, thin upper lip with down turned mouth corners, incurved/short 5th fingers, asymmetry (50%) of limb size, infancy excessive sweating

I.Q. normal. Slight increased risk of urogenital anomalies

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21
Q

Anhidrotic (absent), hypohidrotic (reduced) sweating

Hypotrichosis of scalp/eyebrows/eyelashes (sparse)

Conical teeth, oligodontia

Other features: mildly flat nasal bridge, rosy red lips, periorbital hyperpigmentation, markedly reduced sweat pores

A

X-linked hypohidrotic ectodermal dysplasia

Incidence: 1 in 20,000 (most common ED)

Etiology: mutation in EDA1 gene at Xq12-q13.1

The Ectodermal Dysplasias (EDs) are genetic disorders affecting the development or function of the teeth, hair, nails and sweat glands (>150 EDs are known).

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22
Q 
Obesity, 
polydactyly   [almost universal]
retinitis pigmentosa 
         [tunnel vision/poor night vision, later childhood]
Hypogenitalism (males), 
renal degeneration, 
mental retardation

brain, fat, eye, genitals, kidney

A

Bardet-Biedl syndrome (BBS, AR)
pronounced barDAY-beedl

some cases: TRI-ALLELIC inheritance – like recessive, but need three mutations in BBS2/BBS6

common in middle east
1 in 13,500 (Middle East)
1 in 125,000 (England)

vs: Prader Willi - also has some MR, hypogenitalism, but NO polydactyly/retinitis pigmentosa, kidney stuff.
Prader willi: short stature, small hands, stubbornness, narrow forhead, almond-shaped eyes, triangular mouth, skin picking, hyperphagia (^^ appetite)

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23
Q

Features: LONG PALPEBRAL FISSUES, arched eyebrows, lower EYELID EVERSION, flat nasal bridge, short nasal septum, prominent abnormal ears, large fingertip pads, short 5th fingers, MR, microcephaly, mixed growth problems

Lower frequency features: FTT, reflux, heart defects, long eyelashes, hypoglycemia, hypotonia, lagophthalmos (can’t close eyes), immune problems, late obesity

A

similar to 22 q…. but it’s Kabuki

unknown inheritance, usually sporadic

Incidence: 1 in 32,000/86,000 (?AR)

Etiology: Unknown; report of 8p22-8p23.1 duplication not found to be significant in follow-up reports

Few familial cases (?AD inheritance)

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24
Q

premature aging after early normal infancy, growth deficiency in childhood,
loss of subcutaneous fat, thinning of skin,
acquired thin beaked nose,
prominent subcutaneous vessels,
worsening hypotrichosis,
early death (2nd decade) due to coronary artery disease, arteriosclerosis, and strokes

A

Progeria, 1 in 8 million

mutation in Lamin A/C gene at 1q21-1q23 region; mutations in same gene can cause mandibuloacral dysplasia, CMT 2B, AR Emery-Dreifuss MD, and others representing a “family” of disorders

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25
Q

Increased spontaneous chromosome breakage,
which is increased by DNA cross linking agents

Significant increased risk of neoplasia, e.g., leukemia

THUMB/radial hypoplasia, hyperpigmentation, short stature, pancytopenia (onset after 3 years - loss of all three types of blood cells - red/white/platelets)

BONE MARROW FAILURE

A

Fanconi Anemia (AR) 1 in 26-400 k

FancA-H genes; FancA = 65% of cases

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26
Q

Rett syndrome - inheritance?

A

XL-dominant, typically male lethal

1 in 15,000

MR, spasticity, hand-wringing, inconsolable crying, NO facial dysmophism

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27
Q

scarcity of bile ducts (cholestasis),
heart defects (PS/PPS),
vertebral anomalies with characteristic facial features (deep-set eyes, posterior embryotoxin (eye), high triangular shaped nasal bridge, full nasal tip)
Mild MR may occur

A

ALAGILLE SYNDROME (AD)

1 in 70,000

differential dx for 22q

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28
Q

Eyes: retinal lacunae (punched-out retinal lesions with choroid showing through)

seizures --> should prompt eye exam
severe MR
agenesis corpus collosum
little/no speech
vertebral defects
polydactyly
perinatal anoxia
face - no dysmorphic features
A

Aicardi syndrome (XL dominant)

rare

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29
Q

macrocephaly, frontal bossing, hypertelorism,

polydactyly (broad thumbs/hallices), syndactyly

agenesis corpus callosum

A

Greig Cephalopolysyndactyly (AD)

GLI3

Mutation in GLI3 also in Pallister-Hall syndrome (hypothalamic hamartomas and postaxial polydactyly)

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30
Q

mixed polydactyly and tongue hamartomas

MR, clefting, hypertelorism, agenesis corpus callosum, Dandy-Walker cyst

A

Oral-Facial-Digital syndromes (OFD) (XL,AR,?AD)

At least 9 OFD syndromes identified

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31
Q

ectrodactyly (split hand/foot malformation)

cleft lip/palate

obstructed lacrimal ducts

sparse hair

A

Ectrodactyly-Ectodermal-Clefting EEC, Type 3 (AD)

mutation in P63 gene at 3q27

Type 1 on 7q ; Type 2 on chr20

Mutations in P63 gene also associated with
Hay-Wells,Rapp-Hodgkin, limb mammary syndrome, Adult syn, and ectrodactyly (split hand/foot, type 4)

Despite P63 mutations, no increase in neoplasia

Greek ektroma (abortion) and daktylos (finger) = literally, abortion (of a) finger,[2] involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation

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32
Q

“tree frog” digits with short and broad thumbs/hallices

A

Oto-Palato-Digital syndrome (I/II) AD

Cleft palate, hypertelorism, conductive deafness, mild mental retardation, “tree frog” digits with short and broad thumbs/hallices, bowed limbs (mostly lower extrem.) Type II tibiae/fibulae much shorter and fibulae can be absent. Also risk of omphalocele.

Mutations of filamin A also cause Melnick-Needles, frontometaphyseal dysplasia, and, surprisingly, XL periventricular nodular heterotopia

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33
Q

High risk of BASAL CELL CARCINOMA
increased risk of medulloblastoma and ovarian tumors

macrocephaly, high prominent forehead, hypertelorism, flat nasal bridge, jaw cysts, calcified falx (white at bottom of cranium)

Other: PALM PITS (otherwise rare), polydactyly, pectus, bifid ribs, cleft lip / palate

A

Basal Cell Nevus (Gorlin syndrome) AD

PTCH gene, 1 in 60,000

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34
Q 
postaxial polydactyly (ulnar/pinky side)
clenched fists
A

Trisomy 13

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35
Q

clenched fist with 2nd and 4th fingers on top of middle finger

A

Trisomy 18

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36
Q

small baby
premature
lots of arches on dermatoglyphics (fingerprints)

A

Trisomy 18

arches are not fully-developed

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37
Q

mesomelic ***

A

shortening of long bones (the one farther from the body - distal)

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38
Q 
frontal bossing with high, receeding hairline
supernumerary nipples
umbilical hernia
patches of hypo- or hyper- pigmentation
MR
seizures
A

Pallister-Killian

mosaicism for tetrasomy of 12p.

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39
Q

PTPN11

  • gain of function syndrome?
  • loss of function syndrome?
A

PTPN11
- gain of function syndrome – Noonan
- loss of function syndrome – Leopard
(multiple lentigines syndrome, HCM)

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40
Q

1 in _ kids has a developmental disability

A

1 in 6 = 15%

autism, palsies (motor), ADHD, MR, neurodevelopmental

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41
Q

intellectual disability prevalence

A

1 in 91

42
Q

Autism spectrum prevalence

A

1 in 68

43
Q

“developmental delay”

A

only used until age 5

44
Q

developmental delay, ID, or ASD of unknown cause : first tier recommendations?

A

Fragile X
microarray

…WG sequencing being used more and more as 2nd

45
Q

Developmental disabilities - what percent is due to
CNV?
single gene?
unknown cause?

A

CNV? ~20%
single gene? ~35%
unknown cause? ~45%

genetic etiology can be identified in up to 40% !! if include whole exome sequencing + microarray

46
Q

16p11.2 del

A

one of most common causes of

Autism, DD/ID, Macrocephaly

47
Q

concept:
microdel/dups that are associated with developmental disabilities are now being found in adults, and are associated with ___

A

psychiatric disorders and epilepsy

e.g., 22q, 16p11.2 del, 1q21.1 del, 15q11.2 (prader-willi/angelman)

48
Q

Fragile X

A

1 in 3600 - males
1 in 6000 - females

…..1 in 36 males with intellectual disability of unknown cause has Fragile X!!!

Most common known inherited cause of ID, ASD

49
Q

Females with FMR1 Full Mutations

A

MINORITY without developmental symptoms
Often (not always) less severe intellectual impairment than in males
Mild to moderate ID, ASD, learning disabilities, psychiatric disorders
Long face, prominent ears (more subtle than in males)
Poor eye contact, attentional problems, shyness and social anxiety

50
Q

~ 1 in ___ children with ASD has FXS as the underlying cause

A

~ 1 in 20 children with ASD has FXS as the underlying cause

Fragile X: most common known single gene cause of autism

51
Q

FMR1 Premutations prevalence

FMR1 expands in

A

Premutation prevalence:
1 in 151 females
1 in 468 males

FMR1 expands in mothers to full mutations in sons and daughters

Paternal premutations pass to daughters, usually with minimal expansion

and can have small contractions

52
Q

FMR1 expansions are moderated by

A

AGG interruptions = stabilizing effect on CGG repeats

53
Q

Fragile X-associated Tremor Ataxia Syndrome (FXTAS)

A

Progressive ataxia, tremors, personality changes

~40-50% of premutation males >age 50 have symptoms

~8–17% of premutation females develop FXTAS symptoms in late adulthood, often less severe

Males, females with full mutations not at risk for FXPOI / FXTAS

BUT Individuals with fragile X syndrome and full / premutation mosaicism may be at risk for FXPOI / FXTAS

54
Q

indications for Fragile X syndrome expansions

A

Diagnostic testing of males and females with ID/DD/ASD of unknown cause

Carrier testing for individuals with family history of fragile X or ID/DD/ASD of unknown cause

Prenatal diagnosis when mother has known FMR1 mutation

Diagnostic testing for women with symptoms of FXPOI, unexplained infertility, early menopause

Diagnostic testing for males, females with adult onset ataxia, tremors of unknown cause

55
Q

prenatal:

If the median value is 1.5 mm
Individual value is 3.0 mm

what is MoM?

A

The MoM = 3.0/1.5 = 2.0

56
Q

prenatal: which markers are measured in 1st trimester?

A 
hCG 
       human chorionic gonadotrophin
PAPP-A 
       pregnancy associated plasma protein A
Inhibin A 
      dimeric inhibin A

HIP - (hcg, inhibin a, papp-a) - you’re still “hip” in the first trimester because you can move.

        \+ nuchal translucency

10-14 weeks

57
Q

prenatal: which markers are measured in 2nd trimester?

A 
msAFP 
       alpha fetoprotein
        Only marker that detects ONTD
hCG
      human chorionic gonadotrophin
Inhibin A 
      dimeric inhibin A
uE3
      unconjugated estriol

“a, hui!” Russian expletive/expression like, oh, damn. you can’t move in the second trimester - a, hui!

58
Q

1st tri testing timeframe

A

10-14 weeks

59
Q

Two-part testing (1st and 2nd trimester)
Sequential
Integrated
Contingent

A

Two-part testing (1st and 2nd trimester)

Sequential – all tests, reported twice; once in 1st, once in 2nd
Integrated – same thing, but results reported once in 2nd
Contingent – second tri testing depends on results of 1st. 1st tri –> CVS/amnio OR 2nd tri OR no 2nd tri test

60
Q

prenatal marker pattern in Down Syndrome

A

HI is high, rest is low…risk increases w increasing values

hcG - high
inhibin A - high
AFP - low
uE3 -low
PAPP-A - low

vs “normal” = opposite. HI are low, and AU are high.

61
Q

prenatal marker pattern of Tri 18

A

all 5 markers are low.

62
Q

nuchal - pattern for:
DS?
other trisomies?

A

nuchal measurement is high for
DS
other trisomies

63
Q

cystic hygroma

A

very big nuchal

high risk of aneuploidy –> go straight to diagnostic test

64
Q

the higher the detection rate, the __er the false positive rate

A

the higher the detection rate, the HIGHER the false positive rate …

65
Q

sequential screening in 1st AND 2nd tri has what detection rate for DS?

A

94%, with 11% false positive rate.

66
Q

ACOG algorithm on hemoglobinopathy testing

A

CBC + indices
if AA –> straight to hemoglobin electrophoresis (1 in 10 is SSD carrier)
if SE asian/mediterranean (1in40) –> if anemia (reduced MCV and not low iron), then go to hg electrophoresis.

if (+) for Hemoglobinopathy in SE asian, then check for alpha-thalassemia (1 in 20).

do NOT do hemoglobin solubility testing.

67
Q

Ashkenazi carrier screening guidelines per
ACOG
ACMG

A 
ACOG:
  CF
  Canavan
  Familial Dysautonomia
  Tay-sachs (1 in 27)
ACMG = ACOG + 5
  Gaucher (1 in 15)  --> most common recessive AJ disease
  Mucolipidosis IV (MLIV)
  Niemann Pick (A)
  Bloom
  Fanconi (C)
68
Q

Tay Sachs

  • mechanism?
  • three forms?
A

beta-hexosaminidase A (housekeeping gene)
gangliosides build up
severe neuro degeneration

INFANTILE (null)
symptoms by 6 months –> regression
seizure, blind, deaf,

JUVENILE (one null, one low)
2-10 yrs

ADULT (one null, and G269S mutation – some)
adolescence-adulthood
schizophrenia, neuro
variable presentation

69
Q

Tay Sachs

  • two ways to test
  • benefits/limitations of both
A

Hex A enzyme testing in WBC

  • 97-99% detection
  • won’t tell u which mutation

Molecular for mutations

  • 92-94% detection rate in AJ, lower in non (60%ish)
  • can identify adult-onset
    e. g., G269S + null = schizophrenia, neuro in adults
70
Q

SMA detection is worse in African Americans - why?

A

there’s a higher prevalence of having both SMN1 non-mutated copies on one chromosome, and 0 on the other, thereby being a carrier, even if screened negative.

Risk after initial screening is 1:130, compared to 1:830 in Europeans

AA’s - SMA - 1 in 70 is a carrier
Caucasian - SMA - 1 in 47

71
Q

date of conception relative to last menstrual period?

A

LMP = self-evident

date of conception = LMP + 2 weeks

72
Q

Warfarin embryopathy

A 
Warfarin embryopathy
    Nasal hypoplasia
    Stippled epiphyses
    Limb hypoplasia
Critical period
    6-9 weeks from conception; 8-11 weeks post-LMP
73
Q

Ace-inhibitors for hypertension - when problematic?

A

structural malformations if taken during
2nd or 3rd trimesters

renal tubular dysplasia –> oligohydramnios –> Potter sequence + pulmonary hypoplasia

74
Q

SSRI - teratogenic?

A

no structural
maybe congenital heart defects (2%, vs 1%)
craniosynostosis
omphalocele

Newborn risks: mild, short-lived neonatal adaptation syndrome (NAS)
    Irritability 
   Muscle rigidity/tremors
   Difficulty sleeping and feeding
   Heart rate disturbances
   Temperature irregularity
   Breathing problems

Maybe increased risk of persistent pulmonary hypertension

incr risk of depression in 1st trimester

kids of depressed mothers have incr risk of:
depression
disruptive social behavior
changes in period of sensitivity for language

75
Q

Zofran/odansetrom - teratogenic?

A

possibly 2% risk of congenital heart disease

FDA recently approved Diclegis® (doxylamine-pyridoxine) as the only medication approved for use for N&V of pregnancy

76
Q

methyl mercury - teratogen?

A

Minamata disease - Japan - severe neuro issues - microcephaly/cerebral palsy

recommendation is for women to eat fish, but not too much, and not the wrong kind (not mackerel, swordfish, shark, tilefish).

77
Q

Radiation - teratogen

  • phenotype?
  • threshold for concern, in rads
A

5 rads (most procedures are

78
Q

Fluconazole - teratogen?

A
  • if topical for vaginal yeast infection, then no problem
  • issue is if for Cocci infection (IV/oral) - increased risk of

phenocopy of Antley-Bixler syndrome
craniofacial, limb and cardiac anomalies

79
Q

anticonvulsant embryopathy

A

Phenytoin, trimethadione, carbamazepine, valproate, barbiturates ; increasingly used for bipolar

hypertelorism,
short, up-turned nose
FINGERNAIL HYPOPLASIA

6-15% risk:
Meningomyelocele
Oral clefts
Congenital heart defects
Limb defects

Developmental delay, esp w Valproic Acid

Neurobehavioral differences were not seen in children exposed to lamotrigine

80
Q

Accutane -teratogen?

A

yes - vitamin A derivatives

Occurs in 20-30% of exposed babies
Pattern of malformations
CNS anomalies
Ear anomalies
Cardiovascular defects
Thymus anomalies

Intellectual deficiency can be seen in 30-60%

topical retinoids are OKAY

81
Q

Smoking - teratogen?

A

yes

genetic interaction with TGF alpha - with clefts

82
Q

Morphine - teratogen - genexenvironment?

A

if moms are fast metabolizers, child gets much greater amounts of morphine through the breast milk.

codeine is prescribed for pain after C-section.

83
Q

CMV

A

most are asymptomatic

some: growth restriction, cerebral calcifications, ocular abnormalities and hepatosplenomegaly, esp HEARING LOSS, petichiae (BLUEBERRY MUFFIN BABY)

If mom has primary infection, risk to child to get infection is 30-40%; lower if secondary infection (due to diff CMV strain)

  • socioeconomic effect - more high SES women are NOT immune

of those not immune, ~3% will get infection, and 40% will pass it on. Of kids who get it, 10-15% will have clinically-aparent disease, and most (90%) will develop sequelae. Of those who do NOT have clinically-apparent disease, 10% will develop sequelae.

if kid gets it, most likely will not be affected, but isn’t without risk if doesn’t exhibit infection.

84
Q

common cause of prenatal hearing loss

A

CMV infection

85
Q

blueberry muffin baby

A

CMV

86
Q

fetal alcohol syndrome

A

0.5-3 in 1,000 –> more common than Down syndrome

smooth philtrum
short palpebral fissures
short nose
ptosis
behavioral
cognitive
87
Q

Pregnancy and Lactation Labeling Final Rule (12/3/2014)

A

The PLLR removes pregnancy letter categories – A, B, C, D and X and replaces it with an extensive narrative including sections on pregnancy, lactation, fertility and untreated maternal condition

The PLLR requires the label to be updated when information becomes outdated.

The Pregnancy subsection (8.1) includes information for a pregnancy exposure registry for the drug when one is available

Takes effect on 6/30/15 with implementation expected to be complete in 3-5 years

88
Q

Things to ask about when considering teratogen risk assessment

A

Timing
Dose
Family, medical and pregnancy history
Other exposures

89
Q

hCG levels, on average (not MoMs)

  • “normal”
  • with Down syndrome
A

“normal” - 0.8

DS - 1.6 (2x!)

90
Q

source of cfDNA

A 
placental cell apoptosis (10%)
maternal DNA (90%)
91
Q

NIPT:
reason why heavier women have higher levels of no-call results

average = 3-5% no call
>250 lbs = ___%
>350 lbs = __%

A

fat has higher rates of apoptosis. More fat in mom = more maternal DNA in circulation, and it drowns out the fetal DNA by comparison

average = 3-5% no call
>250 lbs = 20%
>350 lbs = 50%

92
Q

NIPT:

if no-call result is repeated, may not always get answer second time, either. which conditions is this associated with?

A

Trisomy 18 – because presents with smaller placenta, thus less cfDNA of “fetus”

Triploidy – smaller placenta.

93
Q

NIPT:

reasons for false-positives

A

Contamination
Unrecognized or vanishing twin
Confined Placental mosaicism
Low level maternal mosaicism (eg 45,X)

94
Q

Trisomy 21 - false positive rate on NIPT

true positive / false positive = positive predictive value

A

0.5%

true positive / false positive = positive predictive value
2 / 7 =

95
Q

the lower the a-priori risk of a chromosomal abnormality by NIPT, the __er the positive predictive value

e.i., for the use of NIPT in a lower-risk population, the positive predictive value might go in which direction?

A

the LOWER the a-priori risk of a chromosomal abnormality by NIPT, the LOWER the positive predictive value

= more false positives in low-risk population.

96
Q

NIPT:

how does residual risk of non-Tri13/18/21 chromosome abnormalities relate to a woman’s age?

A

older women have much higher rates of chromosome abnormalities, but the proportion of these is much lower for women

97
Q

For Patients with Positive First Tri Screen
Residual Risk of Chromosome Abnormal after
Normal NIPT

A

1 in 52

98
Q

Miller-Dieker

- which prominent finding?

A

Lissencephaly

17p13 del

99
Q

congenital heart defects:

if karyotype normal, what percent is attributable to a CNV detectable by microarray that is NOT 22q

A

63% of CHD are due to CNVs besides 22q

some say microarray should be first tier test for congenital heart defects

100
Q

most CNVs are NOT incompletely penetrant, but have ___

A

variable expressivity.

101
Q

Cytogenetic abnormalites occur in approximately __ of pregnancies
Whole chromosome abnormalities ?
Microdeletions and duplications ?

A

Cytogenetic abnormalites occur in approximately 2% of pregnancies
Whole chromosome abnormalities 0.6%
Microdeletions and duplications 1.3 %

Syndromes (3 decks)

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