Genetics FAQs

What does high-risk NIPT mean?

It means the chance is increased. It does not mean your baby has the condition. The first question to ask is: what is the positive predictive value for my result, at my age, for this specific condition? That number โ€” the chance the result is genuinely correct โ€” varies considerably and is often lower than people assume, particularly for less common conditions and in younger women. ACMG's recommended next steps after a high-risk result: Confirmatory diagnostic testing โ€” CVS or amniocentesis โ€” is recommended. NIPT is not diagnostic, and the risks of the diagnostic procedure should be explained to you. If you decline invasive testing, an effort should be made to obtain cord blood after birth so the result can be confirmed. You should be given accurate, up-to-date and balanced information about the condition itself โ€” including the range of outcomes, not only the difficulties. If your obstetrician is not comfortable providing this counselling, referral to a genetics professional is appropriate. It is reasonable to ask for that. A normal ultrasound after a high-risk NIPT is reassuring but does not exclude the condition, since many chromosome conditions have no visible features on scan. Take the time you need. A high-risk screening result is not an emergency, and decisions made under pressure in the first hour are rarely better than those made after proper counselling.

Sources

  • ACMG โ€” Noninvasive prenatal screening for fetal aneuploidy

Review by Fertility Connect Medical Team Pending

This information is general and does not replace advice from your own clinician.