ArticleThe Journal of international medical research2017
Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
Article in The Journal of international medical research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.
- Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.Molecular genetics & genomic medicine · 2020Pooled it
- Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis.Journal of medical screening · 2026Article
- Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities.Frontiers in genetics · 2026Article
- Article
- Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.BMC pregnancy and childbirth · 2024Article
- Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.International journal of pediatrics · 2024Review
- Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.Molecular diagnosis & therapy · 2023Article
- The effectiveness of non-invasive prenatal test technology and the prenatal screening algorithm based on various methods for determining foetal aneuploidy.Journal of the Turkish German Gynecological Association · 2023Article
- Performance of noninvasive prenatal testing for twin pregnancies in South China.Journal of assisted reproduction and genetics · 2023Article
- Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022Review
- Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.Genes · 2022Article
- Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.Diagnostics (Basel, Switzerland) · 2022Article
- Systematic analysis of the causes of NIPS sex chromosome aneuploidy false-positive results.Molecular genetics & genomic medicine · 2022Article
- Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.Diagnostics (Basel, Switzerland) · 2022Article
- Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.Journal of clinical laboratory analysis · 2022Article
- Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018-2020: A Retrospective Analysis.Journal of personalized medicine · 2022Article
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.Frontiers in genetics · 2022Article
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China.Frontiers in genetics · 2022Article
- The current state of prenatal detection of genetic conditions in congenital heart defects.Translational pediatrics · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).
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