Fetal & Neonatal Genetics

We understand that pregnancy can bring both excitement and uncertainty. Prenatal screening and testing can help you learn more about your baby’s health. Based on your needs, we’ll recommend the right tests and connect you with specialists who can provide personalized guidance.

Prenatal Screening

During your first visit, we’ll get to know you, answer questions and understand your pregnancy concerns. We may recommend routine screening tests to learn more. These noninvasive tests typically include an ultrasound and bloodwork. Sometimes, your testing will include carrier screening to see if you carry a specific gene variant for a genetic condition. Or we might suggest noninvasive prenatal testing (NIPT) to screen for a range of chromosomal disorders like Down syndrome (trisomy 21).

Some families may benefit from advanced screening options, such as single-gene NIPT. This cutting-edge test can screen for a wide range of genetic conditions. In some cases, it can confirm a diagnosis without the need for more invasive testing like amniocentesis or chorionic villus sampling (CVS).

Diagnostic Testing

Prenatal diagnostic tests, such as amniocentesis, whole-exome sequencing and CVS, provide more detailed information about your baby’s health. These tests are more comprehensive than routine screening but may carry some risks, which your care team will discuss with you.

We often recommend diagnostic testing if screening results are unclear or raise concerns. Your doctor may also suggest these tests if you are over 35 or have a family history of genetic conditions. Our team works closely with maternal-fetal medicine (MFM) specialists and other fetal care experts to determine the right testing path for your family.

If you didn’t have prenatal tests – or if you need more answers after delivery – we can also help coordinate postnatal testing to guide your baby’s care.

Follow-up Evaluation and Support

During follow-up visits, we’ll take time to walk through your test results and answer questions. We offer compassionate, one-on-one support to help you process information and explore your care options. No matter your child’s diagnosis or needs, we’ll respect your family’s values and comfort level as you make personal decisions.

We offer:

  • Custom, multispecialty care teams for you and your child’s unique needs
  • Neonatal intensive care unit (NICU) support for critically ill babies and their families
  • Newborn metabolic screening
  • Psychosocial resources, including a dedicated maternal mental health specialist and counseling for families navigating challenging diagnoses
  • Referrals and resources for babies and families
  • Seamless consultation and care coordination