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In the Beginning
Choosing or Refusing First Trimester Screenings
By Katherine Bontrager
If a test does come back indicating an increased risk, Weinblatt suggests the patient meet a genetic counselor for a review of genetic history, possible choices and support. Most likely, diagnostic testing will be offered, such as chorionic villus sampling (CVS) and amniocentesis.
CVS detects chromosome abnormalities such as Down syndrome, trisomy 18 and other genetic disorders either using DNA analysis or biochemical analysis. CVS involves inserting either a catheter through the cervix or a needle through the abdomen into the uterus. There, chorionic villi – small, fingerlike projections growing off the sac and implanting into the uterus – are retrieved for analysis, Weinblatt says. These villi have the same genetic makeup as the fetal cells and will illustrate the chromosomes and DNA and enzymes of the fetus.
"CVS, like routine amniocentesis performed at 16 to 20 weeks, is extremely accurate, but is associated with a risk for pregnancy loss," Weinblatt says. "This risk varies from genetics center to genetics center, so patients are encouraged to inquire about the specific experience at any center providing services."
It is advice that Dr. John Williams, III, highly recommends. As director of reproductive genetics for the Division of Maternal-Fetal at Cedars-Sinai Medical Center in Los Angeles and as an associate professor at UCLA's School of Medicine, he is experienced with the benefits and questions surrounding first trimester testing. Cedars-Sinai Medical Center also has the largest First Trimester Prenatal Diagnosis program on the West Coast and sees approximately 1,500 patients per year for first trimester screening and diagnosis.
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