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Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities

an update

Benn, Peter; Chapman, Audrey R.

Current Opinion in Obstetrics and Gynecology: April 2016 - Volume 28 - Issue 2 - p 119–124
doi: 10.1097/GCO.0000000000000254
PRENATAL DIAGNOSIS: Edited by Jane Chueh

Purpose of review Noninvasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has rapidly changed screening for fetal chromosome abnormalities. We review practical and ethical challenges associated with the transition, progress in their resolution, and identify new emerging difficulties.

Recent findings NIPT is an advanced screening test for trisomies 21, 18, and 13 that was initially limited to women at high risk for an affected pregnancy. It is now recognized as suitable for all women. The testing has been expanded to include sex chromosome abnormalities and some microdeletion syndromes. Some ethicists are concerned about inclusion of disorders that have less severe phenotypes.

Summary Clinical providers have experienced difficulty in maintaining an up-to-date knowledge about the scope of NIPT, differences between tests, who should be offered the testing, performance of tests, reasons for false-positive results, and optimal patient management following positive results. Some of the practical difficulties associated with the introduction can be attributed to this knowledge gap. There remain some important ethical issues associated with NIPT. We believe that the same ethical and legal principles that were considered in the justification of conventional prenatal screening can be used to assess the appropriateness of additional NIPT applications.

aDepartment of Genetics and Genome Sciences

bDepartment of Community Medicine and Healthcare, University of Connecticut School of Medicine, Farmington, Connecticut, USA

Correspondence to Peter Benn, DSc, Department of Genetics and Genome Sciences, University of Connecticut Health Center, 263 Farmington Avenue, E3050, Farmington, CT 06030-3808, USA. Tel: +1 860 679 3614; fax: +1 860 679 3616; e-mail:

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