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Review
. 2020 Aug;46(8):1246-1254.
doi: 10.1111/jog.14268. Epub 2020 Jun 17.

Update on noninvasive prenatal testing: A review based on current worldwide research

Osamu Samura  1
Affiliations
Review

Update on noninvasive prenatal testing: A review based on current worldwide research

Osamu Samura. J Obstet Gynaecol Res. 2020 Aug.

Abstract

Eight years have passed since noninvasive prenatal testing (NIPT) was clinically evaluated and data on NIPT for trisomy 21, 18 and 13 were collected. The data revealed that NIPT is more accurate than conventional first-trimester screening. However, there is still insufficient data regarding the clinical use of NIPT results in detecting sex chromosome aneuploidies or whole-genome regions. NIPT is already being used as a clinical screening method globally. However, it is an unconfirmed diagnostic test and the results must be interpreted with caution as they may yield false negatives, false positives or inconclusive results. Therefore, the aim of this review is to highlight the current status of information, including the different methodologies, shortcomings and implications, regarding NIPT after its adoption worldwide. It is important to include genetic counseling when implementing NIPT. Going forward, the knowledge obtained to date, including the associated shortcomings, must be considered in evaluating the effectiveness of NIPT in detecting genetic abnormalities.

Keywords: diagnostic test; genetic counseling; noninvasive prenatal testing; sex chromosome aneuploidy; trisomy.

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References

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