Cell‐free fetal DNA‐based noninvasive prenatal testing of aneuploidy. (July 2017)

• Record Type: Journal Article
• Authors: Mackie, Fiona L; Allen, Stephanie; Morris, R Katie; Kilby, Mark D
• Is Part Of: Obstetrician & gynaecologist. Volume 19:Number 3(2017)
• Page Start: 211
• Page End: 218
• Publication Date: 2017-07
• Subjects: aneuploidy -- antenatal screening -- cell‐free fetal DNA -- noninvasive prenatal testing; Obstetrics -- Periodicals; Gynecology -- Periodicals; 618
• DOI: 10.1111/tog.12388
• Languages: English
• ISSNs: 1467-2561

Abstract

Abstract : Key content: Noninvasive prenatal testing (NIPT) uses cell‐free fetal DNA (cffDNA) to test for aneuploidy, as opposed to noninvasive prenatal diagnosis (NIPD), which uses cffDNA to diagnose fetal sex, Rhesus D status and monogenic disorders. This classic review focuses on screening for aneuploidy. NIPT is a screening test and needs confirmatory invasive testing in cases of a high‐risk (positive) result. NIPT demonstrates high sensitivities and specificities according to our recent meta‐analysis, although it is less accurate for Trisomy 18, Trisomy 13, Monosomy X and sex chromosomal aneuploidies than for Trisomy 21. It is imperative that the implications of false positive and false negative results are investigated and considered in a clinical context. Learning objectives: To be able to discuss NIPT with patients, including test accuracy and disadvantages. To be up to date with the implementation of NIPT in the National Health Service (NHS). Ethical issues: NIPT requires careful counselling: patients may consider it a 'trivial' or routine blood test and may not fully understand the implications of a high‐risk (positive) result. There are issues surrounding other diagnoses that NIPT can potentially reveal, including maternal cancers, maternal sex chromosome aneuploidies and milder fetal phenotypes.