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Region Hovedstaden - en del af Københavns Universitetshospital

Discordant Non-Invasive Prenatal Testing (NIPT) - a systematic review

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


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Vis graf over relationer

With a high sensitivity and specificity, NIPT is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main reasons for discordant results were, confined placental mosaicism, maternal copy number variations, vanished twins, maternal cancer and true fetal mosaicism. A very high percentage of cases (67%) were reported with no obvious biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of non-invasive prenatal testing between laboratories, we suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation.

TidsskriftPrenatal Diagnosis
Udgave nummer6
Sider (fra-til)527-539
StatusUdgivet - 1 jun. 2017

ID: 50182228