Preconception Care Flashcards
What is the dominance of sickle cell anemia?
autosomal recessive
rate of sickle cell anemia in black population?
1/500 births
rate of sickle cell trait(carrier state) in black population?
1/10
How do you screen for HbC, sickle cell, thalassemias, other hemoglobinopathies?
Hemoglobin electrophoresis
What autosomal recessive diseases are Ashkenazi Jews at increased risk for?
Fanconi anemia, Tay-Sachs(1/30), Cystic Fibrosis, Niemann-Pick disease, Canavan disease(1/55), Bloom syndrome(1/134), Gauchers disease(1/15)
What hemoglobinopathy is seen mainly in Mediterranean populations?
Beta thalassemia
What populations are at increased risk for being carriers for cystic fibrosis?
Non-hispanic white individuals(1/25), including Ashkenazi Jews
What fetal abnormalities are caused by valproic acid?
neural tube defects, hydrocephalus, craniofacial malformations
Women with poorly controlled ____ immediately prior to conception and during organogenesis have a 4 to 8 fold risk of a fetus with structural anomaly(CNS, cardio vascular most common)
diabetes
at what age is chorionic villous sampling generally performed?
10-12 weeks gestation
what can CVS detect?
the sampled placental tissue may be analyzed for fetal chromosomal abnormalities, biochemical, or DNA based studies including testing for mutations associated with cystic fibrosis
What test has highest detection rate for Trisomy 21 and 18?
Cell-free DNA has 99% detection rate with .2% false positive rate
First trimester test for Trisomy 21 and 18
combined test: nuchal translucency, PAPP-A(pregnancy associated plasma protein A), and Beta-hCG; 85% detection rate
What is in the second trimester triple screen for Trisomy 21 and 18?
AFP, beta-hCG, unconjugated estriol; 70% detection rate
What is in the second trimester Trisomy 21 and 18 quad screen?
AFP, beta-hCG, estriol, inhibin A; 80%
