Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities

doi:10.1016/j.ajog.2016.04.012

American Journal of Obstetrics and Gynecology

Volume 215, Issue 2, August 2016, Pages 252-253

https://doi.org/10.1016/j.ajog.2016.04.012 Get rights and content

References (4)

M.E. Norton et al.
Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities
Am J Obstet Gynecol
(2016)
R.J. Baer et al.
Detection rates for aneuploidy by first-trimester and sequential screening
Obstet Gynecol
(2015)

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Cited by (2)

A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center
2020, European Journal of Medical Genetics
Citation Excerpt :
Therefore, not sufficiently defined for a routine clinical application, and some recent reports also suggest that RAT and CNV have a great impact on prenatal diagnosis (Pertile et al., 2017). Some research even suggests that RAT and CNV were not as rare as previously reported (Baer et al., 2015; Benn et al., 2016) Several research teams have emphasized the need to minimize the occurrence of false positive NIPT results as the high specificity for common trisomies is the most relevant advance with this technology. While our research will contribute to the clinical evaluation of genome-wide cfDNA screening, we have accumulated some early lessons that will contribute to better genetic counseling in the future.
To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center.
A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test and post-test genetic counseling was provided, and the pregnancy outcomes were recorded. The results of NIPT and clinical follow-up data were analyzed together with the pregnancy outcomes, confirmatory testing results, and ultrasound findings.
Of the 40,311cases were includes in the study, successful follow-up was conducted in 468 (1.16%) cases with high risk, 225 (0.56%) cases with rare autosomal trisomy (RAT) and copy number variation (CNV). 39,572 (98.17%) cases with low risk and 623 (1.57%) cases of which were confirmed with adverse pregnancy outcomes. 46 (0.1%) cases with failed tests. Among them, 398 (84.7%) cases with high-risk results chose invasive testing, revealing 198 true positive cases. In cases with RAT and CNV results, 189 cases underwent invasive testing, revealing 5 cases RAT and 4 pathogenic CNVs.
NIPT appears to be effective in detecting the fetal chromosomal aneuploidies T21, T18 and SCAs, but it exist false positive/negative cases, unconfirmed high-risk cfDNA results, and the high false positive rate in cases with RAT and CNV results implied the limitations of this screening method. Our study showed the importance to associate cfDNA screening results with clinical follow-up data and provided information that may help with result interpretation, genetic counseling and the decision making in clinic.
Recent advances in prenatal genetic screening and testing
2016, F1000Research

: P.B. is a paid consultant and holds stock options in Natera, Inc; E.R.N. is a member of the Advisory Board for Natera, Inc, and E.P. is an unpaid consultant to Natera, Inc.

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Letter to the EditorCell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities

Am J Obstet Gynecol

Detection rates for aneuploidy by first-trimester and sequential screening

Obstet Gynecol

Letter to the Editor
Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities