Genetic Testing Specialist

Premier Women's Health

Obstetrics & Gynecology located in Mansfield, TX

Revolutionary new technology allows scientists to test you and your baby for genetic disorders, or even undergo a hereditary cancer risk assessment using myRisk®. Carolyn Kollar, DO, FACOOG, offers preconception and prenatal genetic testing at Premier Women’s Health. Find out if you or your partner are carriers for genetic disorders or if your baby has a genetic condition. Call to schedule genetic testing at the Mansfield, Texas practice.

Genetic Testing Q & A

What is prenatal genetic testing?

Prenatal genetic testing uses information from blood work and ultrasounds to test for the presence of or risk for genetic disorders. Genetic disorders occur as a result of gene or chromosome changes.

Prenatal screening

Prenatal screenings use ultrasound and blood tests to assess your baby’s risk for certain disorders. Prenatal screenings during the first trimester include the nuchal translucency screening and cell-free DNA testing.

Second-trimester screenings include an ultrasound exam and a quad blood test for Down syndrome, Trisomy 18, and neural tube defects. The combined results from the first and second-trimester screenings provide more comprehensive information about your baby.

Prenatal diagnostic tests

Diagnostic tests determine whether or not a disorder is actually present. The most accurate prenatal diagnostic genetic test is amniocentesis.

What is cell-free DNA testing?

Cell-free DNA tests use a blood sample drawn from the mother to extract fetal DNA. The test captures free-flowing genetic material from the placenta inside mom’s blood to detect defects with her baby.

Dr. Kollar uses Harmony® and Panorama® cell-free DNA tests as early as 9-10 weeks of pregnancy to screen for genetic conditions such as Down syndrome and trisomies. The non-invasive blood draw also reveals the gender of your baby.

What conditions can you test for?

The prenatal screenings and diagnostic tests available at Premier Women’s Health help identify the following conditions:

  • Aneuploidy: extra (trisomy) or missing (monosomy) chromosomes
  • Sex chromosome abnormalities: extra or missing sex chromosomes
  • Microdeletions: a small piece of a chromosome is missing
  • Inherited disorders: sickle cell disease, cystic fibrosis, and Tay-Sachs disease
  • Neural tube defects: spina bifida and anencephaly

What type of genetic testing is offered for parents?

You can learn the odds of having a baby with a genetic disorder with preconception genetic testing. If disorders like cystic fibrosis, Tay-Sachs disease, fragile X syndrome, and sickle cell disease run in your families, you and your partner may want to see if you’re carriers.

Dr. Kollar also provides Myriad myRisk® testing to assess your hereditary cancer risk. The test tells you if you carry any of over 20 known genes that put you at risk for breast, ovarian, prostate, colorectal, and other cancers.

Once your test results come back, you can meet with a genetic counselor to learn what all the numbers mean and what you can do to prevent problems.

If you’re interested in preconception or prenatal genetic testing, contact Dr. Kollar online or over the phone to set up a consultation.