Intractable Rare Dis Res. 2014;3(3):87-90. (DOI: 10.5582/irdr.2014.01012)

Noninvasive prenatal testing in China: Future detection of rare genetic diseases?

Mei L, Tang Q, Sun BY, Xu LZ


Noninvasive prenatal testing (NIPT) provides an innovative method to detect genetic conditions in fetuses using a maternal blood sample, thus avoiding the risk of miscarriage associated with traditional invasive procedures. Since 80% of rare diseases are genetic diseases, NIPT has the potential to detect rare genetic diseases early on and it has been used in many countries and regions. Since China has the world's largest population of patients with rare diseases, NIPT has been implemented in China since 2010. However, the regulations governing NIPT in China are weak and NIPT oversight and research are still lacking. Strict registration is needed to ensure the quality of NIPT, additional certification can help a developer/manufacturer of an NIPT test to compile clinical data and to improve innovation, and academic societies can provide committee opinions that are suited to the current situation in China. These efforts may improve regulations governing NIPT and NIPT oversight and research in China. With these improvements, NIPT may offer promise in terms of the early detection of rare diseases.

KEYWORDS: Premarket notification, Laboratory Developed Tests (LDTs), Clinical Laboratory

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