Preconception Care Flashcards
What is used to diagnose sickle cell carrier status, as well as thalassemias in general?
Hgb electrophoresis + CBC
Complications of uncontrolled asthma during pregnancy
Prematurity; preeclampsia; growth restriction; C-section; maternal morbidity/mortality
What is the percentage chance of being sickle cell carrier in Blacks?
1/10
What is the carrier frequency of cystic fibrosis in the non-Hispanic white population?
1/25
What is the carrier frequency of different diseases for Ashkenazi Jews?
Gaucher: 1/15 - impaired fatty acid breakdown
Tay-Sachs: 1/30 - neuronal degeneration
Canavan disease: 1/55 - brain degenerates into spongy tissue with enlarged spaces
Maple syrup urine disease: 1/113 - can’t break down branched amino acids
Valproic acid: risks to fetus
Neural tube defects; hydrocephalus; craniofacial malformations (facial clefts, craniosynostosis); limb defects (radial aplasia); cardiac defects; hypospadias
Diabetes (poorly controlled): Risks to fetus
Structural anomalies: Neural tube defects; cardiovascular
Genitourinary defects; limb defects; caudal regression malformation (very rare)
Name the screening tests
Cell-free DNA: most reliable for Trisomy 21 (99% detection rate, 0.2% false positive rate); can start at 9 wga
Others have 5% false positive rate
First trimester combined test (Nuchal translucency, PAPP-A, b-hCG): 85% detection rate
Triple screen (2nd trimester AFP, b-hCG, uE3 unconjugated estriol): 69% detection rate
Quad screen (Triple screen + inhibin A): 81% detection rate
Sequential screen (1st trimester NT and PAPP-A + quad screen): 93% detection rate
Serum integrated screen when unable to obtain NT (1st trimester PAPP-A + quad screen): 85-88%
What is the most common form of inherited intellectual disability?
Fragile X - 1/3,600 males and 1/4,000 females
What should be added for a patient on lamotrigine who wants to become pregnant?
Folate supplementation - decreases incidence of neural tube defects for patients on antiseizure medication
Interpret the 100 g 3h glucose tolerance test
2/4 elevated values = abnormal test —> educate on diet and monitor blood glucose pre/post-prandial
Fasting < 95, 1h < 180, 2h <155, 3h <140
Risk factors for gestational diabetes
Previous large baby >9 lbs; hx abnormal glucose tolerance; pre-pregnancy obesity; Native American/Hispanic ancestry
Risks from gestational diabetes
Shoulder dystocia; fetal macrosomia; metabolic disturbance; preelcampsia; polyhydramnios
When should neural tube defects be screened during pregnancy?
36-38 weeks via US, assessing for meningomyelocele (open spina bifida)
What does elevated maternal serum AFP suggest?
Underestimation of gestational age; neural tube defect; fetal demise; multiple gestation; ventral wall defects; tumor or liver disease in patient
Amniocentesis vs chorionic vilus sampling
CVS is between 10-12 wga
Amnio has highest sensitivity for Down syndrome and other chromosomal abnormalities
Amnio > cell-free DNA testing if patient has high BMI as there is risk of not enough cells
Why should ibuprofen be stopped by 32 wga?
Premature closure of the ductus arteriosus
What anticoagulation should be used during pregnancy?
Heparin/LMWH
How much weight should be gained during pregnancy for the different BMIs?
BMI <18.5: 28-40 lbs
BMI 18.5-24.9: 25-35 lbs
BMI 25.0-29.9: 15-25 lbs
BMI >30: 11-20 lbs
How much folate is needed for preconception planning?
Starting 1 month prior:
Average risk: 0.4 mg daily
High-risk: 4 mg daily
Congenital Rubella would cause what in fetus?
Fetal growth restriction
Congenital Varicella would cause what in fetus?
Microcephaly
How would congenital HSV present?
Microcephaly
How would congenital Syphilis present?
Hydrocephalus
What puts at risk of congenital toxoplasmosis and what would you see?
Undercooked meat
Microcephaly, hydrocephalus, and diffuse cerebral calcifications
