Prenatal Screening

Pregnancy can be a stressful time, and it’s natural for parents to feel anxious when faced with an unexpected genetic diagnosis. While discussing concerns with your healthcare provider is essential, it’s important to recognize that awareness of genetic differences within the medical community can sometimes be limited. Outdated or misleading information from doctors or online sources may unnecessarily heighten worries.

For this reason, consulting a well-informed, qualified specialist, such as a prenatal genetic counselor, is highly recommended. A counselor can help address your concerns, provide a clearer understanding of what the diagnosis might mean for your family’s future, and support you in processing the news.

What is prenatal screening?

Non-Invasive Prenatal Screening (NIPS, also called NIPT) is a common test that predicts whether a baby has an increased likelihood of a genetic variation. In this test, a blood sample is taken from the mother and examined for fetal DNA, which passes from the baby to the mother’s blood through the placenta. By studying fetal DNA, medical providers can predict if the baby is at an increased risk of having a genetic variation.

What Expectant Parents Need to Know

Non-Invasive Prenatal Screening (NIPS/NIPT) is not perfect. While it can identify an increased likelihood of a genetic variation, it cannot provide a definitive diagnosis.

If a maternal blood test suggests a potential genetic variation, diagnostic testing—either before or after birth—is the standard next step. If you receive a positive screening result, it is recommended to:

Talk to your healthcare provider. Ask for additional resources and guidance on finding a genetic counselor.
Consult a genetic counselor. Discuss your concerns, gain a deeper understanding of the diagnosis, and explore potential needs.
Connect with an organization. Reach out to associations of families with children who share the same genetic variation.
Learn from lived experiences. Listen to the perspectives of adults who have grown up with the same genetic variation.
Acknowledge your emotions. Consider speaking with a professional therapist to process your feelings and find support.

What Health Need to Know

Non-Invasive Prenatal Screening (NIPS/NIPT) is not perfect. While it can identify an increased likelihood of a genetic variation, it cannot provide a definitive diagnosis.

Talk to your healthcare provider. Ask for additional resources and guidance on finding a genetic counselor.
Consult a genetic counselor. Discuss your concerns, gain a deeper understanding of the diagnosis, and explore potential needs.
Connect with an organization. Reach out to associations of families with children who share the same genetic variation.
Learn from lived experiences. Listen to the perspectives of adults who have grown up with the same genetic variation.
Acknowledge your emotions. Consider speaking with a professional therapist to process your feelings and find support.

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