Genetic testing is when a blood test is given to prospective or expecting parents to look for abnormal genes that can lead to certain diseases in their baby.
Who Should Get Genetic Testing?
Genetic testing is offered to everyone. There are ethnic backgrounds that can be at a higher risk for certain disorders such as Ashkenazi Jews. It is also worth considering if you have any genetic diseases that run in you or your partner’s family such as cystic fibrosis. If you have had a prior pregnancy affected by a genetic disorder or unexplained stillbirth then testing is recommended. Women older than 35 years old at the time of delivery are also at higher risk and should consider genetic testing. Genetic testing is also offered when a structural concern is found on ultrasound.
Genetic Testing Before You Get Pregnant
Before getting pregnant, you can opt to have carrier screening, which is a test to determine whether or not you are a carrier for any genetic diseases or disorders that could possibly get passed down to your child. Everyone can be a carrier, even if there is no family history of the disorder or disease.
Non-invasive Genetic Screening
Genetic screening is also available for women during pregnancy. At West Des Moines OBGYN we offer several different options for genetic screening.
- First Trimester Screening. The first-trimester screening is done during 11-13 weeks gestation. A first-trimester screen can detect early signs of chromosomal conditions, such as down syndrome, trisomy 13, and trisomy 18. This is a test that combines an ultrasound to measure the thickness of the neck called the nuchal translucency and maternal blood work.
- Integrated Screening. Integrated screening is a two-part genetic screen that can be done to detect early signs of down syndrome, trisomy 13, trisomy 18, and open neural tube defects such as spina bifida. This screening is done by performing an ultrasound between 11-13 weeks to measure the nuchal translucency followed by testing the levels of serum analytes in the mother’s blood at 15-19 weeks.
- Quad Screening (AFP 4). Quad screening is a genetic screen that is done during the second trimester to measure the risk of the baby being born with down syndrome, trisomy 13, trisomy 18, and open neural tube defects. The Quad screen is done during weeks 15-19.
- Free Cell DNA Testing. Non-invasive prenatal screening that can detect an increased risk of down syndrome, trisomy 13, and trisomy 18. This test can also provide information about fetal sex. It can be performed any time after 10 weeks of gestation. We offer Myriad Prequel Prenatal Screening at West Des Moines OB-GYN.
Invasive Genetic Testing:
Further testing is available with a consulting maternal-fetal medicine physician if the noninvasive tests are abnormal or result as high risk.
Amniocentesis is a genetic testing procedure that can take place between 15 – 20 weeks gestation. The procedure is done by inserting a hollow needle into a woman’s stomach under ultrasound guidance and gathering a sample of amniotic fluid. The amniotic fluid is then checked for genetic disorders and includes the sex of the baby. This type of genetic testing doesn’t have a small risk of miscarriage.
At West Des Moines OBGYN, our priority is you and your baby. We will always put your needs first and develop the appropriate care plan for you. Whether you’re trying to become pregnant for the first time or are expecting another child, we are here to help you along the way. Schedule a preconception visit with us to discuss maternal cell testing and if it is right for you.