While pregnancy is a very special and intimate time for mothers to be, it can also be a time of worry for those who are concerned about genetic disorders or syndromes. Most babies are born healthy and without birth defects, but approximately 3-5% of all babies are born with a birth defect. There are a variety of reasons that a pregnancy may have an increased risk for genetic disorders including family history. For those with a known family history of a genetic disorder, genetic counseling is often recommended to discuss the possible risks to a pregnancy.
At approximately 12 weeks of pregnancy, women have the option to undergo genetic screening or testing for birth defects and genetic disorders. Down Syndrome, Trisomy 18, and Trisomy 13 are chromosome abnormalities that are caused by a baby accidentally getting an extra chromosome in the egg or sperm. Open neural tube defects, like spina bifida, happen when the development of a baby’s spinal cord is interrupted and does not close into a tube. Women are especially encouraged to take folic acid with their prenatal vitamins, as this decreases the chance of the developing baby having spina bifida.
Screening tests are done with ultrasounds and blood tests, and they carry no risk to the mother or pregnancy. The goal of your OBGYN practice is to provide women the highest quality obstetrical care throughout their pregnancy. By undergoing genetic screening early in pregnancy, it gives parents the opportunity to decide if they wish for further testing. All pregnant women should see their OBGYN regularly throughout their pregnancy in order to maintain a healthy pregnancy and give their growing babies the best start in life.
Posted on behalf of Sean Lambert M.D., North Pointe OB/GYN Associates