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MedGen > Prenatal conditions > Flashcards

Prenatal conditions Flashcards

1
Q

how many types of congenital adrenal hyperplasia (CAH) exist?

A

7

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2
Q

what hormones do the adrenal glands produce?

A

aldosterone: helps kidneys control amount of salt in the body
cortisol: helps body manage and use carbohydrates, proteins, and fat (is times of stress -> changes metabolism and suppresses immune system)
androgens: male sex hormone

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3
Q

what causes 90-95% of CAH? what are the various types?

A

21-OHD

  • classice (simple virilizing and salt wasting form)
  • non classic form
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4
Q

what is the difference between simple virilizing form and salt-wasting forms of CAH?

A

SV: adrenal glands make enough aldosterone but not cortisol

salt-wasting: adrenal glands make almost no cortisol or aldosterone

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5
Q

what are some characteristics of simple virilizing form of CAH?

A

46, XX individuals are virilized at birth (notably ambiguous genitalia)

precocious puberty and axillary hair

cystic acne

rapid linear growth but reduced height in adulthood

advanced bone age

preogressive penile enlargement and small testes in XY

menstrual abn

reduced fertility

male pattern baldness

hirsutism

testicular adrenal rest tumor (40%)

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6
Q

what are some characteristics of salt-wasting form of CAH?

A

features of SV but with: vomiting, poor feeding, FTT, weight loss, dehydration, hypotension, hyponatermia, metabolic acidosis, progressing to adrenal crisis

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7
Q

how soon can an adrenal crisis appear in someone with SW CAH? are XY or XX find at a higher risk?

A

1-4wks postnatally

XY due to lack of ambiguous genitalia

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8
Q

does adrenal crisis occur in non-classic CAH?

A

no

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9
Q

what is the prognosis for someone with CAH?

A

if treated: good and normal life expectancy

untreated: 75% fo classic CAh suffer from aldosterone deficiency with salt wasting, FTT, and potentially fatal hypovolemia and shock

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10
Q

what gene is associated with CAH? de novo rate? inheritance?

A

CYP21A2, 1% de novo rate

AR inheritance

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11
Q

what type of CAH is more common? do geno-/phenotype correlations exist?

A

non-classic

yes, about 50% of genotypes have a direct phenotype correlation

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12
Q

how can we test for CAH?

A

NBS (rarely detects non-classic form) -> second-tier testing may involve liquid chromatography-tandem mass spec or measuring concentration of hormones

biallelic PVs in CYP21A2 to confirm clinical dx

routine U/S may detect genital ambiguity or adrenal hyperplasia

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13
Q

what are some of the counseling considerations we may consider with CAH?

A

genitoplasty and sexual development in XX

lifelong and regular meds

XY with short stature

stressful situations become more stressful with possiblity of adrenal crisis

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14
Q

how might we treat CAH?

A

glucocorticoid replacement therapy

mineralocorticoid replacement therapy

virilized inds may pursue genitoplasty and/or vaginal dilation

precocious puberty can be treated with hormones

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15
Q

what are the two types of hereditary polycystic kidney disease?

A

AR and AD

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16
Q

what systems does ARPKD impact?

A

kidney and liver

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17
Q

what gene is associated with ARPKD? when are most people dx? what is the carrier freq?

A

PKHD1 (DZIP1L is a secondary locus)

perinatally

1:70

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18
Q

what U/S findings may suggest ARPKD?

A

bilaterally enlarged, echogenic kidneys -> particularly with poor corticomedullary differentiation (CMD) & no FHx of kidney disease

oligohydramnios -> Potter sequence and/or empty bladder

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19
Q

when can we see echogenic kidneys on U/S? when might other findings consistent with ARPKD be visualized?

A

13wks

after 20wks

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20
Q

are AD- and ARPKD easily differentiated?

A

1-2% of ADPKD can present as an early-onset form that is indistinguishable from ARPKD

ADPKD caused by PKD1/2, typically see bilateral macrocysts, AD may present with unilateral kidney involvement then progress to bilat, CHF is rarely seen in ADPKD but almost always present in ARPKD

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21
Q

true or false: there are many other conditions that mimic the expression of ARPKD?

A

true

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22
Q

how effective is sequencing PKHD1 at detecting PVs?

A

73-85%

panel may be better to rule out early-onset ADPKD and other phenocopies

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23
Q

what are the primary characteristics of ARPKD?

A

enlarged, echogenic kidneys

congenital hepatic fibrosis (due to ductal plate malformation of liver)

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24
Q

what are the primary kidney and liver manifestations in ARPKD?

A

kidney: nephromegaly, impaired renal function, hypertension, oligo- or anuria, eventually end-stage renal disease
liver: congenital hepatic fibrosis, Caroli disease, hepatosplenomegaly, portal hypertension, increased risk of infection

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25
Q

if we suspect ARPKD in a pregnancy, what might we do?

A

U/S every 2-3 wks to assess amniotic fluid levels and kidney size

refer for delivery to center with NICU

26
Q

what are the immediate postnatal concerns for an infant with ARPKD?

A

Stabilize respiratory functions

treat hypertension

identify oligo- or anuria

27
Q

what is the prognosis for those with ARPKD?

A

30-40% mortality due to pulmonary hypoplasia

85% one-year survival, 82% 10-year survival

greater than 50% progress to ESRD in the first 10y o flife

28
Q

what is different about the various types of SMA?

A

onset and severity

29
Q

how much SMA does SMA Type 1 account for?

A

60%

30
Q

what are the clinical characteristics of SMA type 1?

A

onset: birth-6mo (mean 2.5mo)

muscle weakness and atrophy (symmetric and mostly proximal - legs more than arms.)

loss of motor milestones (head control, sit only with support)

31
Q

what genes are associated with SMA? common PV? de novo rate?

A

SMN1 (causative) and SMN2 (modifier)

96% of those with SMA 1 are missing exon 7

2% de novo rate

32
Q

what is unique about the carrier status of SMA?

A

people can have two alleles in cis and be a silent carrier

33
Q

how can we better identify silent carriers of SMA?

A

look for the SMN1 c*3+80T>G SNP (if present with normal SMN1 dosage, then likely silent carrier)

34
Q

how many state currently offer NBS for SMA?

A

34, 8 pursuing (added to NC in 2021)

35
Q

what is the prognosis of SMA without newer therapies?

A

8-10mo median surivial (most children die before their second birthday)

36
Q

what are the SMN-enhancing treatments available to children with SMA?

A

Spinraza and Risdiplam increase SMN from SMN2

Gene therapy Zolgensma (<2y and any type of SMA)

37
Q

what % of osteogenesis imperfecta are type II (aka perinatal lethal OI)?

A

up to 12%

38
Q

what are the skeletal characteristics of OI type II?

A

short, broad long bones

short limb

hypomineralization

39
Q

what are the craniofacial characteristics of OI type II?

A

solf calvarium with large fontanels

multiple Wormian bones

blue sclerae

shallow orbits

small (beaked) nose

40
Q

what are the neurological characteristics of OI type II?

A

abn development of the cerebral cortex and neuronal migration

41
Q

what features of OI type II are detectable on U/S?

A

multiple fractures, narrow chest, shortened femurs, bowed/twisted limbs, hydrops

42
Q

what genes are commonly associated with OI type II? inheritance? what’s unique about the recurrence of OI?

A

COL1A1 or COL1A2

AD, dominant-negative effect can occur

some AR variants have been reported

high rate of gonadal mosaicism

43
Q

OI type II can be classified into _____ subtypes.

A

3

44
Q

what is the prognosis for those with OI type II? how does death usually occur?

A

60% die within first DOL, 80% in the first month, extremely rare to survive past first year

death typically due to respiratory distress, congestive heart failure, or infection

45
Q

how should we monitor fetuses with OI type II? neonates?

A

moitor for IUGR and hydrops

monitor for respiratory insufficiency, reduce number of and mitigate fractures, etc.

46
Q

how many different types of thanatophoric dysplasia are there?

A

2

47
Q

what is unique about type 1 thanatophoric dysplasia?

A

micromelia with BOWED femurs, craniosynostois is uncommon

48
Q

what is unique about type 2 thanatophoric dysplasia?

A

micromelia with STRAIGHT femurs

moderate to severe craniosynostosis (uniformly) -> cloverleaf skull findings

49
Q

what is similar between types 1 and 2 Thanatophoric dysplasia?

A

short ribs, narrow thorax, relative macrocephaly, brachydactyly, hypotonia, redundant skin folds along limbs, growth deficiency and distinct facies

50
Q

what gene is associated with thanatophoric dysplasia? inheritance?

A

FGFR3

type 1 -> nonsense adn missense muations

type 2 -> SN subs (lysine with glutamine in tyrosine kinase 2 domain)

AD inheritance

51
Q

when is thantophoric dysplasia typically dx? 1st tri findings? 2nd and 3rd?

A

3rd trimester

1st: shortening of long bones, increased NT

2/3: growth deficiency, platyspondyly, narrow thoracic cavity and short ribs, polyhydramnios, bowed femurs (type 1), cloverleaf skull (typically type 2), relative macrocephaly

52
Q

what is the prognosis for those with thanatophoric dysplasia?

A

early neonatal death is typical (respiratory insufficiency most common comorbidity)

53
Q

what are the features associated with Kallmann syndrome?

A

hypogonadotrophic hypogonadism resulting from gonadotrophin releasing hormone

anosmia/hyposmia due to hypoplasia of the olfactory bulbs

54
Q

what gene is implicated with KS type 1?

A

ANOS1 - Xp22.3

55
Q

what is the common feature of x-linked ichthyosis? caused by?

A

shedding and dry, polygonal scales

microdeleion of Xp22.3

56
Q

what are some indicators of XL-Ichthyosis and/or Kallman syndrome?

A

low uE3 in urine and serum

high levels of dehydroepiandrosterone sulfate in amniotic fluid

deficiency of steroid sulfatase activity in amniocytes

increased levels of dehydroepiandrosterone sulfate in maternal serum

57
Q

what are some possible U/S of XL-Ichthyosis and/or Kallman syndrome?

A

kidney agenesis

cleft lip

short metacarpals and/or syndactyly

underdeveloped primary sex characteristics

58
Q

what is the difference between an omphalocele and gastroschisis?

A

o: covered
g: exposed

59
Q

omphaloceles can commonly be seen with what conditions:

A

Beckwith-Wiedemann

trisomies 13 and 18

pentalolgy of cantrell

60
Q

does gastroschisis typically occur with genetic conditions?

A

usually isolated

61
Q

when are abdominal wall defects typically visualized? why shouldn’t they be dx before 12wks?

A

in the second trimester

protrusion/herniation of the intestines is a normal part of development

MedGen (15 decks)

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