ArticleMolecular cytogenetics2021
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.
Article in Molecular cytogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience.Molecular genetics & genomic medicine · 2026Article
- Analysis of diagnostic consistency rate and pregnancy outcomes in pregnant women with high-risk NIPT undergoing transabdominal amniocentesis.American journal of translational research · 2026Article
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.Journal of genetic counseling · 2025Article
- Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening.Journal of genetic counseling · 2025Article
- Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future.The application of clinical genetics · 2025Article
- NIPT Integration as a Patient-Paid Prenatal Screening Option-Observations and Challenges from a Bulgarian Genetic Counseling Center.Medical sciences (Basel, Switzerland) · 2024Article
- Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health.Cell genomics · 2024Article
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.International journal of neonatal screening · 2024Article
- Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.Journal of personalized medicine · 2024Article
- 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
- The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.Frontiers in genetics · 2024Article
- Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.International journal of pediatrics · 2024Review
- Testicular Dysfunction in 47,XXY Boys: When It All Begins. A Semilongitudinal Study.The Journal of clinical endocrinology and metabolism · 2023Article
- Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.Journal of genetic counseling · 2023Article
- A rare case of mosaic Klinefelter syndrome in a 45-year-old man leading to successful live birth through ejaculated spermatozoa: a case report and literature review.Frontiers in genetics · 2023Article
- First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study.International journal of fertility & sterility · 2023Article
- Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.American journal of obstetrics and gynecology · 2022Article
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study.Molecular genetics & genomic medicine · 2022Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases. MATERIALS AND
methodsWe retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and data on pregnancy outcomes were collected.
resultsIn total, 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 were true-positive. Overall, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when only pregnant women of advanced maternal age (AMA) were screened, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 23.81%, 53.33%, 78.95%, and 66.67%, respectively. The frequency of SCA was significantly higher in the AMA group than in the non-AMA group. The frequencies of 47,XXX and 47,XXY were significantly correlated with maternal age.
conclusionNIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive foetuses were more eager to terminate pregnancy than those with 47,XXX and 47,XYY. AMA may be a risk factor of having a foetus with SCA. Our findings may assist in genetic counselling of AMA pregnant women. Our pre- and posttest counselling are essential for familiarizing pregnant women with the benefits and limitations of NIPT, which may ease their anxiety and enable them to make informed choices for further diagnosis and pregnancy decisions.
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