Nursing 209

N209: Reproductive Health Study Guide  History of a child affected by a trisomy  Parent with balanced Robertsonian translocation with increased risk for trisomy 13 or 21 • Cystic fibrosis carrier screening o Genetic testing to tell if a person carries a mutation of the CF gene o One copy of a mutation of the CF gene must be present in each parent for a child to have CF o Considered an autosomal recessive disease o 50% chance a child will inherit one normal and one abnormal gene and be a carrier (but not affected) o 25% chance a child will inherit two abnormal genes and be affected • Chorionic villus sampling o Invasive diagnostic prenatal genetic testing o Performed between 10-12 weeks gestation o Small sample of cells are taken from the placenta where it attaches to the uterine wall (chorionic villi) o Must be done with genetic counseling to discuss risks vs. benefits Second Trimester Testing • Quad screen o Also known as Multiple Marker Screening Test (MMS) o Blood test checking for four markers (AFP, total hCG, unconjugated Estriol, and Inhibin A) o Done between 15-21 weeks gestation • Anatomy scan o Ultrasound done between 18-20 weeks o Assesses fetal growth • Amniocentesis o Aspiration of amniotic fluid for fetal cells o Done between 15-20 weeks o Diagnostic test (not screening) used to confirm genetic abnormalities noted in screening tests • Glucose screening test o Used to determine presence of gestational diabetes o Performed between 24-28 weeks o May be done earlier in patients with a higher risk for developing gestational diabetes (obesity, family history, or previous GDM)

©2018

Achieve

Page 35

of 109