Perinatal Diagnostic Center & Women's Ultrasound COVID-19 Response

Genetic Testing Specialist

Perinatal Diagnostic Center & Women's Ultrasound

High Risk Pregnancy & Fetal Medicine Specialists & OBGYNs located in Ventura, CA, Thousand Oaks, CA, West Hills, CA, and Mission Hills, CA

Most babies are perfect when they’re born, but every year, around 120,000 babies are born with congenital disabilities. If you want to know your risk of delivering a baby with genetic abnormalities, Daryoush Jadali, MD, offers genetic testing for parents and fetuses at Perinatal Diagnostic Center & Women's Ultrasound in Thousand Oaks, West Hills, Mission Hills, and Ventura, California. Call the practice to schedule a consultation today to learn more about genetic testing and if it’s right for you.

Genetic Testing Q & A

What is genetic testing?

Genetic testing is a diagnostic procedure that examines genes, chromosomes, and proteins from you and your baby to determine your risk of birth defects and other abnormalities. At Perinatal Diagnostic Center and Ultrasound, Dr. Jadali offers prenatal screening tests to assess the chance that your baby has a chromosomal abnormality. He also provides prenatal diagnostics tests that can tell whether your baby has certain disorders.

What genetic screening tests should I have during pregnancy?

Perinatal Diagnostic Center and Ultrasound offers genetic screening for you, your partner, and your baby.

You and your partner can have carrier screening to find out if you carry a gene for any genetic disorders. Carrier screening involves a blood test or a tissue sample collected from the inside of your cheek with a swab. Carrier testing screens for:

  • Cystic fibrosis
  • Sickle cell anemia
  • Spinal muscular atrophy
  • Tay-Sachs disease

Dr. Jadali can also screen your baby for chromosomal abnormalities, brain and spine defects, and other potential problems. He performs the screening tests with advanced ultrasounds and maternal blood tests.

During your first trimester, you’ll have bloodwork and an ultrasound. During your ultrasound, Dr. Jadali examines the thickness of the space at the back of your baby’s neck with a nuchal translucency screening, which can reveal your baby’s risk for Down syndrome and other physical defects.

In your second trimester, you can have additional genetic screening including a quadruple blood test that checks for other signs of Down Syndrome, trisomy 18, and neural tube defects. You also have another ultrasound that allows Dr. Jadali to check for physical abnormalities in your baby’s brain, spine, facial features, abdomen, heart, and limbs.

What are the available genetic diagnostic tests?

If any of your genetic screening tests have positive results, Perinatal Diagnostic Center and Ultrasound also offers diagnostic testing, including amniocentesis and chorionic villus sampling (CVS), to find out if your baby has specific genetic disorders.

Amniocentesis tests a tiny amount of your amniotic fluid and CVS uses a small sample of your placenta to monitor your baby’s chromosomes and rule out conditions such as Down syndrome and trisomy 18. Both tests are minimally invasive and pose little risk to your pregnancy.

If you want to schedule a genetic screening, call Perinatal Diagnostic Center and Ultrasound today.