3: Prenatal screening/dx/tx Flashcards Preview

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Flashcards in 3: Prenatal screening/dx/tx Deck (25)
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1
Q

sickle cell anemia

A

AR disease caused by a single point mutation in the gene for the beta chain in hemoglobin

2
Q

tay-sachs symptoms

A
  • loss of alertness and an excessive reaction to noise (hyperacusis).
  • developmental delay and neurologic degeneration in intellectual and neurologic function. -Myoclonic and akinetic seizures can present 1 to 3 months later.
  • -cherry-red spot: prominent red macular fovea centralis is contrasted by the pale retina.
  • paralysis, blindness, and dementia, and typically die by age 4 years.
3
Q

tay-sachs caused by ?

A

deficiency of hexosaminidase A (hex A), the enzyme responsible for the degradation of GM2 gangliosides
-leads to accumulation of gangliosides in lysosomes–>enlarged neurons with lipid filled lysosomes, cellular dysfunction and neuronal death`

4
Q

first trimester screen

A

11 to 14 weeks

nuchal translucency, which is combined with pregnancy-associated plasma protein A (PAPP-A) and β-hCG

5
Q

second-trimester screen

A

15-20 weeks

quadruple (quad) screen and includes MSAFP, estriol, β-hCG, and inhibin

6
Q

Down syndrome associated features

A

short stature, classic facies, developmental delay, and mental retardation with IQs ranging from 40-90. cardiac defects, duodenal atresia or stenosis, and short limbs.

7
Q

Trisomy 18

A

Edward syndrome
clenched fists, overlapping digits, and rocker bottom feet. Cardiac defects: (VSD), ToF, omphalocele, congenital diaphragmatic hernia, neural tube defects, and choroid plexus cysts (seen on US)

8
Q

Trisomy 13

A

Patau syndrome
holoprosencephaly, cleft lip and palate, cystic hygroma, single nostril or absent nose, omphalocele, cardiac anomalies including hypoplastic left heart, and limb anomalies including clubfoot and clubhand, polydactyly, and overlapping fingers

9
Q

45,X

A

Turner syndrome, or monosomy X
short stature.
-primary amenorrhea, sexual infantilism, webbed neck, low-set ears, low posterior hairline, epicanthal folds, wide carrying angle of the arms, shield-like chest, wide-set nipples, short fourth metacarpal, renal anomalies, lymphedema of the extremities at birth, and CV anomalies: coarctation of the aorta. seen on U/S: cystic hygroma

10
Q

47,XXY

A

Klinefelter syndrome

  • small, firm testes and hyalinization of the seminiferous tubules.
  • infertility, gynecomastia, mental retardation, and elevated gonadotropin levels due to the decreased levels of circulating androgens.
11
Q

endoderm

A

GI and respiratory systems

12
Q

mesoderm

A

CV, musculoskeletal, GU

13
Q

ectoderm

A

nervous system, skin, and many sensory organs (e.g., hair, eyes, nose, and ears)

14
Q

most NTDs result from

A

defective closure by week 4

15
Q

spina bifida dx findings

A

ultrasound findings of the “lemon” sign (concave frontal bones), and the “banana” sign (a cerebellum that is pulled caudally and flattened)
elevated amniotic fluid α-fetoprotein (AFP) that crosses into the maternal serum (MSAFP)

16
Q

quad screen results in trisomy 21

A

MSAFP: decreased
estriol: decreased
hCG: elevated
inhibin: elevated

17
Q

quad screen results in trisomy 18

A

MSAFP: decreased
estriol: decreased
hCG: decreased
inhibin: decreased

18
Q

quad screen results in trisomy 13

A

depends on defects

19
Q

level I ultrasound does not look at

A

fetal limbs, identify sex, show face, or provide extensive views of the heart

20
Q

echogenic intracardiac focus (EIF)

A

calcification of the papillary muscle without any particular pathophysiology
seen on US in Downs and fetuses of Asian women

21
Q

when can amniocentesis be performed?

A

> 15 weeks (2nd trimester)

22
Q

when can CVS be performed?

A

9-12 weeks (1st trimester)

23
Q

when is US typically performed?

A

18-22 weeks

24
Q

A level II US can identify ?

A

cleft lip, polydactyly, clubfoot, fetal sex, NTDs, abdominal wall defects, and renal anomalies.
some cardiac and brain anomalies

25
Q

Karyotype and DNA tests require ? for analysis.

A

fetal or trophoblastic cells