There’s the true story of a young woman who was expecting a child, had a successful delivery and gave birth to a beautiful baby girl. Early on, it became clear that something was very wrong with the baby — she gradually started to lose her eyesight, became deaf and then her muscles stopped working. Shortly after her second birthday, the little girl died. Her parents were devastated. You see, their baby had Tay-Sachs Disease, a rare genetic disorder found in Jews of Ashkenazi descent, but the ob-gyn never ordered genetic testing because the couple didn’t appear to be Jewish.
Before you become pregnant, you will want to research your partner’s and your family medical histories for genetic disorders. Ask every relative you can if they know about any genetic problems in blood relatives living or deceased.
Then ask your doctor to order a DNA analysis or you can order your own analysis to check for hereditary disorders at GenePlanet Personal Genetics or Gene DX DNA Diagnostic Experts.
Once you have your partner’s and your results in hand, review the results with a doctor and consider whether it’s safe to become pregnant and, depending upon the circumstances, what it would mean if your child were born with a genetic condition.
If you’re already pregnant and have questions about the health of your baby (based on your family and ethnic background, or you’ve had two or more miscarriages, or you’re over 34) tell the doctor about your concerns and request genetic testing for your baby. Note that European Caucasians and Eastern European Jews face an increased risk of cystic fibrosis and Eastern European Jews also face an increased risk of conditions such as Tay-Sachs, familial dysautonomia and Canavan. African Americans and people of Mediterranean descent (Italians, Greeks, Turks, Lebanese…) face an increased risk of conditions such as sickle cell anemia and thalassemia. People of Southeast Asian descent also face an increased risk of thalassemia and French-Canadians face an increased risk of Tay-Sachs and cystic fibrosis.
The two most common in utero genetic testing methods are amniocentesis and chorionic villus sampling. There is also a blood test available to screen for some disorders. If you opt for an amniocentesis test, it will usually be performed between weeks 15 and 20 of your pregnancy. The doctor will insert a hollow needle into your abdomen and remove a small amount of amniotic fluid from around the developing fetus. The fluid will be tested to check for genetic problems and to determine the sex of the child (if you want to know before the baby’s born). Note that amniocentesis carries a slight risk of inducing a miscarriage.
If you choose to have a chorionic villus sampling (CVS), you can expect the test is to be performed between the 10th and 12th weeks of your pregnancy. The doctor will remove a small piece of the placenta to check for genetic problems in the fetus. Because of the invasive nature of CVS, there’s a small risk that the test will induce a miscarriage.