[Non-invasive prenatal testing: challenges for future implementation].

Abstract

The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis. Since the introduction of the NIPT the use of these invasive tests, which are associated with a risk of miscarriage, has fallen steeply. The NIPT may replace the combined test. Also the number of conditions that is tested for can be increased. Modification of current prenatal screening will require extensive discussion, but whatever the modification, careful counseling remains essential to facilitate pregnant women's autonomous reproductive decision making.

• Authors: Lidewij Henneman, G C M L Lieve Page-Chrisiaens, Dick Oepkes
• Journal: Nederlands tijdschrift voor geneeskunde (Ned Tijdschr Geneeskd) Vol. 159 Pg. A9479 ( 2015) ISSN: 1876-8784 [Electronic] Netherlands
• Vernacular Title: NIPT, de niet-invasieve prenatale test: uitdagingen voor de toekomst.
• PMID: 26530119 (Publication Type: Journal Article)

Topics

• Amniocentesis (adverse effects)
• Chromosomes, Human, Pair 18
• Down Syndrome (diagnosis)
• Female
• Hematologic Tests (statistics & numerical data)
• Humans
• Netherlands
• Pregnancy
• Pregnancy Trimester, First
• Prenatal Diagnosis (methods, trends)
• Trisomy (diagnosis)
• Trisomy 18 Syndrome