The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.

Shi P, Wang Y, Liang H, et al. Prenat Diagn. 2021;41(10):1332-1342. doi:10.1002/pd.6002.

Tags: Clinical Experience / Clinical Utility, 2021, China, CNVs

  • “Of 36,970 ultrasound negative women there were 291 NIPS-Plus screen positive results indicating 237 aneuploidies and 54 MMS [microdeletion/microduplication syndromes]. Following amniocentesis, 171 (72%) were confirmed as genuine, comprising 3 T13s, 10 T18s, 61 T21s, 70 SCAs and 27 MMS.”
  • No significant difference in PPVs for MMS stratified by CNV size (PPV was 50% for CNVs < 5 Mb versus 50% for CNVs > 5 Mb).
  • “Conclusions: NIPS-Plus has the potential for clinical utility not only for routine aneuploid screening but also for MMS that do not show overt signs during early pregnancy ultrasound screening. We suggest that ultrasound with NIPS-Plus in combination with appropriate counselling could be considered as a comprehensive first-tier prenatal screening approach for all pregnant women.”