There are many options available today for genetic screening, with a variety of outcomes and benefits, especially diagnostic and screening tests. Your Panhandle OBGYN Specialist will typically discuss all the detail in person for this subject. But, the truth is, it’s all a bit complex. There are many things to consider. That’s why we created this video. Watch and learn from Dr. Barnett about all the options available at Panhandle OBGYN.

Quad Screen

Offered to all patients during the second trimester (After 15 weeks). This test consists of blood work and will test hormone levels in the patients blood stream. This provided a risk assessment for potential complications. A quad screen is not an absolute “yes or no” test. Results could come back in the form of “Your baby has a 1 in 10,000 risk of down syndrome”, etc. Patients can move on to further testing after a quad screen, if so desired.

First Trimester Screening

Usually offered by a maternal fetal medicine specialist. This test consist of an ultrasound to gauge the thickness of the babies neck and do blood work for hormone levels at that point.

Results can either be viewed as a stand-alone test or combine with second trimester screening results. Results are also displayed in numeric values, similar to quad testing. If a high-risk patient has had a first trimester screening, possibilities of more invasive procedures are opened up.

Ultimately, a first trimester screening is similar to a quad screen, but gives you an earlier risk assessment.

Free Fetal DNA Testing

At 10 weeks, blood work can be done to reveal potential high-risks. This test will show exactly what the baby’s chromosomes are, exposing any potential chromosomal based genetic disorders. Free Fetal DNA Testing is most popular because parents can find out if they are having a boy or a girl at this time. The test is around 99% accurate.

This test is never refused to anyone that asks for it, but there are a few reasons why Free Fetal DNA Testing is not recommended for low-risk patients:

  1. False Positives – False positives occasionally occur for rare genetic mutations that usually wouldn’t be screened for.
  2. Avoiding Expense – Free Fetal DNA Testing carries a relatively high price tag, in comparison to other genetic testing options.

This is a great test for high-risk pregnancies, but it isn’t necessary for everyone.

What difference is genetic testing going to make?

Pro: Genetic testing can raise early indications of chromosomal irregularities that can sometime be corrected with non-invasive procedures.

Con: Early genetic testing can cause unnecessary worry or anxiety.

We’re here to educate you as much as possible for your peace of mind. Contact us for more information or to schedule an appointment.


Learn more from Dr. George Barnett: