Prenatal Screening

Non-Invasive Prenatal Screening (NIPS), also known as Non-Invasive Prenatal Testing (NIPT), is a common test used to assess whether a baby has an increased likelihood of a genetic variation.

NIPS involves taking a blood sample from the pregnant mother to analyze fragments of fetal DNA that pass into her bloodstream through the placenta. This helps medical providers estimate the likelihood of certain genetic variations in the baby.

Although NIPS provides valuable insights, it's a screening test, not a diagnostic one. A positive result indicates an increased likelihood but does not confirm a genetic variation.

For a definitive diagnosis, follow-up tests such as amniocentesis during pregnancy or blood tests after birth are needed for a more conclusive understanding of the baby’s genetic health.

What is Prenatal Screening?

Pregnancy can already be a stressful time, and learning about an unexpected genetic variation may heighten feelings of anxiety. It’s natural for parents to feel uncertain or worried about what the result means for their baby and their future.

While healthcare providers offer invaluable guidance and support, not all specialize in genetic differences, and some may share outdated or incomplete information. Consulting a well-informed specialist, such as a prenatal genetic counselor, can help you better understand the diagnosis, address concerns, and process the news.

If you do have a positive screening result, it's recommended to:

Talk to your primary care provider: Ask for additional resources and guidance on next steps including follow-up diagnostic testing.

Consult a genetic counselor: Seek professional guidance from a genetic provider to share your concerns, understand the diagnosis and explore your options.

Contact an association: Connect with an organization of families with children who share the same kind of genetic variation to learn about potential strengths and needs.

Acknowledge your emotions: Consider consulting a therapist to address your feelings about the diagnosis.

Listen to lived experience: Gain insights from adults who grew up with the same genetic variation, or parents navigating similar journeys with their children. The Chromodiversity Podcast features interviews that share firsthand experiences, providing valuable perspectives and encouragement.

I Received a Positive Screening Test—What Now?

“Early intervention is the absolute key.”

A Mother’s Story: Raising Three Boys with Klinefelter's

How medical professionals discuss genetic differences is of great importance. The choice of words (see depathologizing language resource) and timing when delivering a prenatal diagnosis can have significant emotional consequences. It's essential that this information is paired with support and follow-ups, beginning with a consultation with a qualified genetic counselor.

The emotional journey of adapting to a prenatal diagnosis¹

Diagram of journey of adapting to prenatal diagnosis

What Healthcare Professionals Should Know

Takeaway

There is no “perfect baby” and no “ideal DNA”. At least 65% of the population has some kind of health problem as a result of their genetic code², and many children without a genetic diagnosis also face challenges. Strive to learn as much as you can, seek support, and remember not to ignore your own feelings.

Consider sharing this resource with your child's healthcare professional or school if you feel it could be helpful.

“Early diagnosis is early intervention. It makes things so much easier."

Growing Up with Stephen Part 2

Prenatal Screening

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