Hudson Valley Parent

October 2013

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was waiting for results. It turned out the triple screen had been a false positive, and the CVS, in my opinion, was for nothing." A personal decision If you're in a high-risk bracket, genetic testing is worth considering. At the same time, you might want to contemplate what you will do if a health problem is detected. If it isn't going to change the path of your pregnancy, you might decide not to go through the pain, stress, and anticipation of testing. "The issue of pregnancy termination is probably the most controversial topic related to genetic testing," says Heller. "Pregnancy termination is an option until 24 weeks of pregnancy in New York. Some women would choose pregnancy termination for a significant genetic abnormality, others would not. It is a very personal decision which also requires accurate medical information about the genetic disease diagnosed." Jennifer Fugal, 30, a mother of four living in Olivebridge, says, "We never had any genetic testing done for any of the babies. It was our feeling that if something was wrong with our child, we wouldn't do anything different, so why take the test just to be stressed out and possibly cause harm? But with my third, I had a thin uterine wall from my previous pregnancies and we needed to deliver the baby as early as possible. I had two amnios to test for fetal lung maturity to make sure it was okay to deliver. Her lungs were ready at 38 weeks and we delivered the next day." Talk to your doctor Speaking to your doctor to find out exactly what the tests will and won't tell you, what's involved, and what the risk factors are can help alleviate fears and misconceptions while allowing you to make an informed decision. It's important to remember that while medical professionals offer these tests, they are not obligatory. You can always opt for some tests while declining others. As prenatal testing becomes more refined, parents will continue to face more difficult decisions. According to Heller, "We will soon have the ability to analyze the entire genome of the developing baby, determine every genetic mutation the baby carries, all of the baby's genetic traits, and the genetic predispositions to disease — all from a maternal blood test performed in the first trimester." Parents will have more information than ever before. How each family makes use of that information, or whether they even want to know, is a very personal matter, and only the patient can decide which tests are right for her. Aileen Weintraub is a freelance writer living in Ulster County. She is currently writing a memoir entitled "Womb Service" about her time on pregnancy-related bed rest. The high-risk bracket Medical and family history, age, and ethnic background are all factors in deciding whether a woman's pregnancy is considered high risk. Pregnant women over the age of 35 are automatically candidates for amniocentesis because the risk of having a baby with Down syndrome increases dramatically as a woman gets older (3 in 1,000 for a 35 year old; 1 in 100 for a 40 year old). Women who have a family history of genetic disorders, such as cystic fibrosis, sickle cell disease, or Tay-Sachs disease, may opt for a carrier-screening test to see if she or her partner are carriers. Prenatal testing roundup Amniocentesis: A thin needle is inserted through the abdomen into the uterus. Tests for Down syndrome, neural tube defects, and some genetic disorders Carrier screening: Blood or saliva is tested to see if parents are carriers for genetic diseases such as cystic fibrosis, sickle cell disease, or Tay-Sachs disease Chorionic Villus Sampling (CVS): A thin needle is inserted through the abdomen into the uterus to test for Down syndrome and other chromosomal abnormalities Glucose tolerance: The patient drinks a glucose drink and then takes a blood test to check for gestational diabetes Nuchal translucency screening: A high-tech ultrasound that detects the risk of Down syndrome and other abnormalities, as well as congenital heart problems Routine blood work: Tests RH status and anemia. May also test for syphilis, hepatitis B, and immunity to diseases such as rubella and chicken pox. Triple screen: A blood test that screens for three different substances to find out if your baby is at risk for certain chromosomal problems and birth defects, generally done before an amniocentesis or CVS. Hudson Valley Parent 43 n

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