Genetics FAQs

Can ultrasound be normal after abnormal NIPT?

Yes, and this is a common and genuinely difficult situation. A normal ultrasound after a high-risk NIPT is reassuring but does not exclude the condition. Many chromosome conditions have no visible features on scan, particularly in the first and early second trimester. Some babies with Down syndrome have entirely normal scans. So the two results are not in conflict โ€” they are answering different questions. NIPT estimates a probability from placental DNA. Ultrasound looks at structure. What ACMG recommends after a positive screen remains the same regardless of the scan: confirmatory diagnostic testing by CVS or amniocentesis, because NIPT is not diagnostic. Where the ultrasound genuinely changes things: if the scan shows features associated with a chromosome condition, that increases the likelihood. ACMG also notes that where fetal anomalies are detected on ultrasound, invasive testing with chromosomal microarray is more likely than NIPT to identify chromosomal imbalances and may be the better option โ€” because microarray detects far more than NIPT screens for. If you decline invasive testing, ACMG recommends an effort be made to obtain cord blood at delivery for confirmation. Ask for this to be arranged in advance. It is entirely reasonable to feel caught between two results. Ask for referral to a foetal medicine specialist or genetics professional who can talk you through what each test can and cannot tell you.

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.