Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

Tian W, Yuan Y, Yuan E, et al. Eur J Med Res. 2023;28(1):304. Published 2023 Aug 30. doi:10.1186/s40001-023-01285-2. Learn more

Tags: Clinical Experience / Clinical Utility, 2023, China, RAAs, CNVs

With NIPT-PLUS, the detection sensitivity for RATs was 80% (4/5) and PPV for RATs was 50%.
Detection rate of NIPT-PLUS for microdeletion/microduplication syndrome (MMS) was 63.86%. The larger the MMS fragment, the higher the NIPT-PLUS detection sensitivity.
Authors conclude that NIPT-PLUS has a high sensitivity for detecting aneuploidy and CNVs > 5Mb. CPM and fetal mosaicism are key factors leading to false negatives. Maternal chromosomal abnormalities and CPM are key factors leading to false positives. Genetic counseling before and after NIPT-PLUS is important.

Glossary

cfDNA: cell-free DNA

CMA: chromosomal microarray

CNV: copy number variation (also referred to as partial deletions/partial duplications or segmental imbalances)

CPM: confined placental mosaicism

GW: genome-wide

PPV: positive predictive value

RAA: rare autosomal aneuploidy

RAT: rare autosomal trisomy

SCA: sex chromosome aneuploidy

UPD: uniparental disomy

Expanded NIPT Publications*