Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.

Harasim T, Neuhann T, Behnecke A, Stampfer M, Holinski-Feder E, Abicht A. J Clin Med. 2022;11(2):372. Published 2022 Jan 13. doi:10.3390/jcm11020372. Open Access:

Tags: Clinical Experience / Clinical Utility, 2022, Germany, RAAs, CNVs

  • Study describes GW-NIPT results on 3664 patient samples at a single genetics center.
  • “RAAs and CNVs (>7 Mb) were detected in 0.5%, and 0.2% of tested cases, respectively. Follow up on pregnancies with an NIPT-positive result for RAA revealed signs of placental insufficiency or intra-uterine death in 50% of the cases and normal outcome at the time of birth in the other 50% of cases. We showed that CNV testing by NIPT allows for the detection of unbalanced translocations and relevant maternal health conditions.”
  • “NIPT for aneuploidies of all autosomes and large CNVs of at least 7 Mb has a low “non-reportable”-rate (<0.2%) and allows the detection of additional conditions of clinical significance…Our results support previous work showing that NIPT detection of CNVs has clinical value that may extend beyond the detection of fetal anomalies.”