Now Offering Telemedicine Video Appointments!

Skip to main content

Genetic Screening


At Our Capital Women’s Care, We Offer the Recommended and Elective Genetic Screening Tests Including Cell-free DNA Blood Testing, Nuchal Translucency Test, and Carrier Screening. To Find Out Which Genetic Screening Is Right for You, Please Call Us or Schedule an Appointment Online.

Genetic screening for chromosomal and other anomalies has advanced tremendously recently.

Know your options to determine which genetic screening test may be best for you.

Cell-free DNA blood testing:

A non-invasive test that is recommended for women who are at least 10 weeks pregnant to learn about their baby’s chance to have specific chromosome problems like Down Syndrome. This test allows for the detection of limited trisomy affected fetuses in an earlier stage of development thus allowing more time to prepare and educate pregnant women affected by the results.

Carrier Screen for Inherited Diseases:

Carrier Screen can help determine whether you carry inherited health conditions that you might pass on to a child such as cystic fibrosis, muscular dystrophy, or fragile X.

Nuchal Translucency Test:

The nuchal translucency scan (also called the NT scan) uses ultrasound to assess your developing baby’s risk of having Down syndrome (DS) and some other chromosomal abnormalities, as well as major congenital heart problems and neural tubes problems (brain, spine malformations) such as open spina bifida.

The Second Trimester Screen:

This is a blood test offered to many women over the years to screen their fetus during their 15th to 20th week of pregnancy. This test has been quoted to achieve “high” detection rates for Down Syndrome, Trisomy 18, Spina Bifida, or other spinal defects. The problem with the second trimester testing is that it is not diagnostic, and also has a high false-positive rate; meaning a positive test occurs in 5% of cases, but does not necessarily mean that the fetus is affected by a genetic illness. After a positive test, many women choose to have a diagnostic amniocentesis. However, an amniocentesis carries risk and can lead to a miscarriage.

Ultrasound testing in the second trimester between 18-20 weeks has been used for many years now to screening of fetal anomalies and to detect chromosomal problems. The testing is non-invasive; however, it provides relatively low detection rates and should not be used as a diagnostic test.

The definitive diagnostic test has always been an amniocentesis or chorionic villus sampling (CVS). Both these tests are invasive and may lead to loss of pregnancy; therefore, most women are not inclined to choose this route because of these risks. However, women and partners at high risk for genetic illness may use this test as a diagnostic test for fetal genetic illness. These tests were previously only offered to women who are pregnant that will be over 35 years old at time of delivery or at a higher risk for having a baby with a for genetic illness. Now the recommendations have changed and include offering these invasive tests to all women who are pregnant.

Of course, all this talk about genetic screening does not take into account that some women opt out of genetic screening altogether due to personal or religious reasons. You have the right to decline any or all of this testing but being well-informed about your options will help you make the best decision. Make sure your obstetrician reviews your options during your pregnancy and you discuss your wishes for genetic screening during your pregnancy.