Care After Non-Invasive Pre-Natal Testing

Background

Non-invasive prenatal testing (NIPT), based on analysis of cell-free fetal DNA in maternal blood, is used within the NHS Fetal Anomaly Screening Programme as a second-tier test after a higher-chance combined or quadruple screening result for trisomy 21, 18 and 13. NIPT is a screening test, not a diagnostic test: a "higher-chance" NIPT result indicates increased probability of an affected pregnancy, not a confirmed diagnosis.

Counselling After a Higher-Chance Result

RCOG guidance states NIPT should always be offered, and results given, by skilled healthcare professionals, so that appropriate information and impartial support are available to women and partners who receive a higher-chance result. Counselling should:

Role of Diagnostic Confirmation

A higher-chance NIPT result does not confirm a diagnosis. Women who wish to know for certain whether the fetus is affected can choose to have a diagnostic procedure — amniocentesis or chorionic villus sampling (CVS) — to obtain a karyotype/genetic diagnosis. For the specific procedural detail (gestational-age windows, technique, and procedure-related miscarriage risk — now quoted as likely below 0.5% for singleton pregnancies with a skilled operator, per the updated evidence base), see GTG 8: Amniocentesis and Chorionic Villus Sampling in this corpus. Continuing the pregnancy without diagnostic testing, or declining further testing altogether, are also legitimate options that should be presented without judgement.

High-Yield Exam Points

Source: RCOG Green-top Guideline No. 1 (Not yet published as a full Green-top Guideline. RCOG's guidance page lists status as "in development" (joint with the British Maternal & Fetal Medicine Society), originally targeted for mid-2025 publication; that date has now passed and the guideline remains pending, with the RCOG page itself last reviewed 31 October 2019. In the absence of the finalised Green-top text, the counselling content below is drawn from RCOG's current published patient-information guidance, *Supporting women and their partners through prenatal screening for Down's syndrome, Edwards' syndrome and Patau's syndrome* (RCOG, published 02/12/2020), which covers the same care pathway.)

MRCOG AI is an independent educational tool. It is not affiliated with, endorsed by, or connected to the Royal College of Obstetricians and Gynaecologists (RCOG).

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