Scott F, Smet ME, Elhindi J, et al. Ultrasound Obstet Gynecol. 2023;10.1002/uog.26272. doi:10.1002/uog.26272
Tags: Clinical Experience / Clinical Utility, 2023, Australia, RAAs, CNVs
- Retrospective study of all cases with NIPT from 3 tertiary providers of obstetric ultrasound using NIPT as a first line screening test over a 4-year period.
- “The LTFU [late first trimester ultrasound] findings significantly altered the PPV of the NIPT result for trisomies 13, 18 and 21, monosomy X (MX) and rare autosomal trisomies (RATs), but not for the other sex chromosomal abnormalities or segmental imbalances (>7 Mb). An abnormal LFTU increased the PPV close to 100% for trisomies 13, 18 and 21, MX and RATs. The magnitude of the PPV alteration was highest for the lethal chromosomal abnormalities.”
- “Conclusions: LTFU after a high-risk NIPT result can alter the PPV of many chromosomal abnormalities, assisting counselling regarding invasive prenatal testing and pregnancy management.”