Genetic Screening

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Whether it’s to assess your risks or to gain more information about suspected problems, Women First can provide safe, noninvasive and highly accurate screening tests for you and your baby. These newer tests give insight into your risk for a number of chromosomal disorders, such as Down syndrome (extra chromosome 21), as well as gender. Another group of tests will screen you as a carrier of more than 100 different autosomal recessive diseases. As a result, invasive tests such as amniocentesis or CVS, which have a risk of miscarriage, are rarely needed.

Technology allows us to test your baby’s chromosomes by doing a simple test of your blood. These tests can be done any time after 10 weeks and screen for Down syndrome (Trisomy 21), Trisomy 18, and Trisomy 13, as well as sex chromosomal disorders. These tests screen for the most common chromosomal disorders, yet they do not test for all chromosomal issues. And, while a negative test result is very reassuring, it does not always guarantee a healthy baby.

We also offer a simple blood test to screen for spina bifida, or open neural tube defect—one of the most common birth defects. This test is MSAFP (maternal serum alfa fetal protein), which is done ideally between 16 and 20 weeks of pregnancy at a relatively low cost. Taking folate pre-conceptually and very early in pregnancy can significantly reduce the risk of your baby having spina bifida.

There are thousands of genes on our chromosomes, and many of us are carriers of a specific gene defect without being aware of it. When your partner carries the same recessive gene, your child has a 25% chance of receiving both genes and getting the disease. Examples of these types of recessive genetic diseases, which affect one in 400 births, include cystic fibrosis and sickle cell anemia.

A simple blood test can screen you or your partner to see if you are a carrier of more than 100 genetic diseases that are relevant to pregnancy and babies. When we only screen based on ethnicity and family history, we miss 80% of carriers. An expanded genetic carrier blood test can be done at any time, pre-conceptually or during pregnancy.

Genetic screens are optional; only you can decide if they’re right for you. You may want to discuss these testing options at a visit with your physician early in your pregnancy. If you are interested, you should see how much your insurance will cover and how much your cost will be by contacting the genetic testing company to get your individual cost.

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What People Are Saying

Toni G
2022-06-02
I've been seeing Dr. Price for many years and have always had a great experience with her. Dr. Price has always listened to me and addressed all of my questions and concerns. My only complaint is with a former nurse I saw for medical issues who didn't further investigate them and it got progressively worse. Luckily the current nurse practitioner diagnosed me correctly and have received the correct treatment.
Morgan Miller
2022-04-22
When I was looking for a gyno, Jeanette and Dr. Booth came highly recommended from family that see them and rightly so! Jeanette has the best bedside manner and takes the time to be thorough and understand the patient. When I had an issue outside of office hours, I was able to submit a question on the Follow My Health app and got a phone call in less than 30 minutes from the care team. They’re the best and I tell everyone about them!
Jennifer Stephens
2022-04-15
I’ve been a patient at Women 1st for 16 years and cannot say enough about this practice. Every staff member is caring, friendly, and very good at what they do. The physicians & nurses are some of the best in the state of Kentucky, which is why I currently live in Georgetown and drive to Louisville to continue my care. Highly recommend Dr. Warren or Dr. Price!
Kailee Kaiser
2022-02-17
Jeannette Jaggers, APRN is GREAT! I drive a hour and a half just to see her! Makes you feel comfortable and truly cares about YOU! Very happy to have her as my OB/GYN.