Thrombophilias, thyroid disease, autoimmune disorders, genetic screening

Question 1

Prevalence of Factor V Leiden

Answer 1

8% in Caucasians

Question 2

How often is “thrombophilia panel” positive in normal, healthy people?

Answer 2

40%

Question 3

Should thrombophilia testing be done for adverse pregnancy outcomes?

Answer 3

NOPE (not related except APLS)

Question 4

Criteria for APLS

Answer 4

1 clinical + 1 lab:
Vascular thrombosis, fetal death 10 wga or greater, sPEC or FGR requiring delivery < 34 wga, at least 3 SABs > 10 wga
Lupus anticoagulant, ACA IgG or IgM, anti-beta-2-glycoprotein (>12 wks apart)

Question 5

Risks other than fetal loss associated with APLS

Answer 5

FGR, gHTN / sPEC, indicated PTD (each about 33% risk)

Question 6

Risk of thrombosis in pregnancy with APLS

Answer 6

5-12%

Question 7

Anticoagulation for APLS in pregnancy

Answer 7

Ppx + baby ASA antepartum

Ppx x 6 wks postpartum

Question 8

Fetal surveillance for APLS

Answer 8

Serial US, NST starting at 32 wga, del by 39 wga

Question 9

Estrogen impact on thyroid levels

Answer 9

Increases binding proteins like TBG and albumin so that no change in free hormone level (but total increased to compensate!)

Question 10

hcg and TSH receptor

Answer 10

hcg stimulates TSH receptor (ie. appears to have hyperthyroidism, esp in hyperemesis)

Question 11

Most common cause of hyperthyroidism in pregnancy

Answer 11

Graves disease (thyroid-stimulating immunoglobulins - TSI - stimulate thyroid receptor)

Question 12

Scary risk related to thyroid storm

Answer 12

CHF

Question 13

Treatments for thyroid storm

Answer 13

PTU (1000 mg then 200 mg q6hrs)
Sodium iodide (500-1000 mg q8hrs)
Dexamethasone (2 mg q6hrs x4)
Propanolol (or labetalol or esmolol)

Question 14

Most common causes of hypothyroidism

Answer 14

Hashimoto (autoimmune) thyroiditis, iodine ablation or surgery, iodine deficiency

Question 15

Synthroid requirements in pregnancy

Answer 15

Increase 50-100%

Question 16

Effect of rheumatoid arthritis on pregnancy

Answer 16

None (not even baseline proteinuria)

Question 17

Treatments for RA in pregnancy

Answer 17

Glucocorticoids, short-term NSAIDs, TNF-a blockers

Question 18

Risks of SLE in pregnancy

Answer 18

SAB, IUFD, FGR, PTB (indicated), PPROM, complete heart block

Question 19

Risk of IUFD with SLE + APLS

Answer 19

With APLS 50% risk

With APLS and prior IUFD 85% risk

Question 20

If anti-SSA, anti-SSB in pregnancy, then…

Answer 20

Fetal echocardiogram in 2nd trimester

Question 21

Treatments for SLE in pregnancy

Answer 21

Hydroxychloroquine, steroids, azathrioprine (for more severe dz, risk of FGR), NSAIDs

Question 22

Multiple marker screening GA time windows

Answer 22

First trimester 11-14 wga

Second trimester 15-22 wga

Question 23

AFP high in MMS

Answer 23

Neural tube defect

Question 24

Hcg or inhibin high in MMS

Answer 24

Down syndrome

Question 25

All MMS markers low

Answer 25

Trisomy 18

Question 26

Next step if abnormal NT

Answer 26

Automatic positive -> genetic counseling and diagnostic testing

Question 27

cffDNA and PPV

Answer 27

Lower PPV at lower age

Question 28

CVS: when and risk

Answer 28

10-13 wga, loss rate 1:455

Question 29

Amnio: when and risk

Answer 29

15-20 wga, loss rate 1:900

Question 30

Cystic hygroma probability of different outcomes

Answer 30

50% karyotype abnormalities
25% structural abnormalities
25% apparently normal
(cystic hygroma = automatic positive screen)

Question 31

Likelihood of Down syndrome with ventriculomegaly

Answer 31

25 x increased risk

Question 32

Atrioventricular septal defect

Answer 32

Virtually diagnostic of Down syndrome (half of DS will have cardiac defect)

Question 33

Duodenal atresia differential diagnosis

Answer 33

Duodenal web vs annular pancreas

Question 34

How many of duodenal atresia have Down syndrome?

Answer 34

33%

Question 35

Duodenal atresia associated finding

Answer 35

Polyhydramnios

Question 36

Most common chromosomal abnormality with omphalocele

Answer 36

Trisomy 18 (1/3 have karyotype abnormality)

Question 37

Measurement for thickened nuchal skin fold

Answer 37

> 6 mm at <20 wga

Question 38

Down syndrome risk with thickened nuchal skin fold

Answer 38

Increases 10-20 fold (1/3 of Down syndrome cases have this)

Question 39

Chromosome abnormality: ventriculomegaly, EIF, cardiac defects, duodenal atresia, short HL and FL, echogenic bowel, mild pyelectasis, sandal sign

Answer 39

Trisomy 21

Question 40

Chromosome abnormality: choroid plexus cysts, posterior fossa abnormality, clenched hands, cardiac defects, omphalocele, club / rocker bottom feet

Answer 40

Trisomy 18

Question 41

Chromosome abnormality: midline craniofacial abnormality, cardiac defects, neural tube defects, severe FGR

Answer 41

Trisomy 13

Question 42

US signs of NTD

Answer 42

Banana sign, lemon sign, ventriculomegaly, spinal defect, meningomyelocele

Question 43

Marker to screen for NTDs

Answer 43

MSAFP