When you are pregnant, genetic testing can reveal whether your fetus might have certain disorders caused by gene or chromosome changes. Conditions such as Tay-Sachs disease, sickle cell disease, and Down syndrome are detectable through testing available at OBGYN clinics. Below are some options that may help you decide what testing is right for you.   

Prenatal Genetic Testing Options

1. Prenatal Screening Tests

Prenatal screening tests reveal the chances of aneuploidy occurring in a fetus. A fetus with aneuploidy has too few or too many chromosomes. Down syndrome is a type of aneuploidy. 

2. Prenatal Diagnostic Tests

Diagnostic tests during pregnancy reveal whether a fetus actually has a gene disorder. OB-GYNs conduct some of this genetic testing by taking cells from the placenta or the fetus through amniocentesis. Doctors use needles to draw amniotic fluid from pregnant patients.

3. Carrier Screening

Pregnant women or would-be parents can undergo carrier screening to learn if they have a gene for specific inherited disorders, such as sickle cell disease, Tay-Sachs disease, and cystic fibrosis. An OB-GYN takes a tissue sample from the inside of the parent’s cheek or takes a blood sample for testing. 

4. First-Trimester Screening

Usually performed between the 10^th and 13^th weeks of pregnancy, first-trimester screening combines an ultrasound exam and testing of the expecting mother’s blood. The blood test measures levels of certain substances present in the blood. The ultrasound takes fetal measurements to screen for Down syndrome and abdominal, heart, and skeletal defects.

5. Second-Trimester Screening

OB-GYNs conduct second-trimester screenings between the 15^th and 22^nd weeks of pregnancy. They take blood samples to screen fetuses for aneuploidy including trisomy 18, Down syndrome, and neural tube defects. Ultrasound exams reveal brain, heart, spinal, and other physical defects.

If you are expecting and have questions about genetic testing, consult a pregnancy doctor at Obstetrics & Gynecology Associates. With locations in Fairfield and Liberty Township, OH, these compassionate OB-GYN specialists offer accessibility and sensitivity to your concerns. Drawing on their experience since 1940, OBGYN Associates gives women dedicated service from conception through birth. Make an appointment with one of these pregnancy doctors today. Call (513) 221-3800 or visit their website for more information.