Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report

Tamaki, Yuko; Katagiri, Yuki; Umemura, Nahomi; Takeshita, Naoki; Morita, Mineto

doi:10.1016/j.crwh.2020.e00236

Cited by 2 publications

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There can be unexpected findings, even for NIPTs evaluating only trisomies 13, 18 and 21. Partial trisomies or even tetrasomies, e.g., supernumerary isochromsome 18p syndrome can be picked up: several publications report this surprise detection in the literature (e.g., [ 26 , 27 , 28 ]).…”

Section: Nipt and Its Practical Restrictions And Shortcutsmentioning

confidence: 99%

Non-Invasive Prenatal Testing in Germany

et al. 2022

View full text Add to dashboard Cite

In the short 10 years following the introduction of non-invasive prenatal testing (NIPT), it has been adapted in many countries around the world as a standard screening test. In this review, this development was analyzed with a special focus on Germany. As a result, it can be stated that all known advantages of NIPT apart from “compensating for having no access to centers offering invasive diagnostics” are valid for Germany. In addition, following a review of the international literature, all documented issues with NIPT are also observed in Germany. However, the German Gene Diagnostics Act (GenDG) addresses a number of these issues, for example, the regulations by GenDG hamper induced abortions, based exclusively on an abnormal NIPT result. At the same time, GenDG has created new problems, as a possible collusion between the “right not to know with regard to parts of the examination result” may occur, or that the sex of the fetus must not be reported to the pregnant woman before the 12th week of gestation. Main conclusions drawn are that appropriate training and the continuing education of the physicians providing NIPT-related counseling are needed, as well as the provision of balanced and comprehensive information for the pregnant woman or the couple that is imperative.

show abstract

Section: Nipt and Its Practical Restrictions And Shortcutsmentioning

confidence: 99%