Comment on “QF‐PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first‐trimester prenatal diagnoses”

Toutain, Jérôme; Van-Gils, Julien; Horovitz, J.; Saura, R.

doi:10.1002/pd.4202

Cited by 1 publication

(1 citation statement)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The most likely explanation is the difference in indications for sampling shown by a lower incidence of trisomies 13, 18 and 21 in the paper of Grati et al [ 25 ] (3% versus 7% (404/5967) in our patient group) ( Table 4 ). This is also confirmed by the paper of Toutain et al [ 26 , 27 ] who found an incidence of GMDD of 1/386 (0.26%) in a small series of CV sampled for increased nuchal translucency or other ultrasound abnormalities. So, depending on whether there is a high or low risk for aneuploidy, the estimated chance for a false negative NIPT diagnosis will vary between 0.02% and 0.26% ( Table 4 ).…”

Section: Discussionsupporting

confidence: 81%

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

et al. 2016

View full text Add to dashboard Cite

Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the “fetal” DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. Based on our experience with cytogenetic studies of CV, we tried to estimate this risk. 5967 CV samples of pregnancies at high risk for common aneuplodies were cytogenetically investigated in our centre between January 2000 and December 2011. All cases of fetal trisomy 13, 18 and 21 were retrospectively studied for the presence of a normal karyotype or mosaicism < 30% in short-term cultured (STC-) villi. 404 cases of trisomies 13, 18 and 21 were found amongst 5967 samples (6,8%). Of these 404 cases, 14 (3,7%) had a normal or low mosaic karyotype in STC-villi and therefore would potentially be missed with NIPT. It involved 2% (5/242) of all trisomy 21 cases and 7.3% (9/123) of all trisomy 18 cases. In 1:426 (14/5967) NIPT samples of patients at high risk for common aneuploidies, a trisomy 18 or 21 will potentially be missed due to the biological phenomenon of absence of the chromosome aberration in the cytotrophoblast.

show abstract

Section: Discussionsupporting

confidence: 81%