ArticlePrenatal diagnosis2016
Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.
Article in Prenatal diagnosis, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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.
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Who cites it
20 citing papers in PubMed, 58 citations in OpenAlex.
- Society for Maternal-Fetal Medicine Consult Series #76: Cancer in pregnancy.Pregnancy (Hoboken, N.J.) · 2026Article
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Non-invasive prenatal testing: when results suggests maternal cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Noninvasive prenatal screening and maternal malignancy: role of imaging.Abdominal radiology (New York) · 2023Review
- Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases.Clinical case reports · 2022Article
- Cell-free fetal DNA coming in all sizes and shapes.Prenatal diagnosis · 2021Review
- Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies.EClinicalMedicine · 2021Article
- Trends in prenatal diagnosis: An analysis of 40 years of Medical Subject Heading (MeSH) terms in publications.Prenatal diagnosis · 2020Article
- Prenatal maternal biomarkers for the early diagnosis of congenital malformations: A review.Pediatric research · 2019Review
- Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures.Journal of clinical medicine · 2019Article
- Current Controversies in Prenatal Diagnosis 2: NIPT results suggesting maternal cancer should always be disclosed.Prenatal diagnosis · 2019Article
- Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned.Prenatal diagnosis · 2018Article
- Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening.Pediatric radiology · 2018Review
- Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Maternal Malignancy Evaluation After Discordant Cell-Free DNA Results.Obstetrics and gynecology · 2018Review
- Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease.Science translational medicine · 2017Article
- Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine.Annual review of medicine · 2017Review
- Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.Prenatal diagnosis · 2016Article
- Recent advances in prenatal genetic screening and testing.F1000Research · 2016Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies.
methodsRetrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneuploidies (n = 37). Clinical outcome information was reviewed and stratified into eight categories according to whether the karyotype or sonographic information agreed or disagreed with sequencing results.
resultsOf 67 cases with fetal or neonatal karyotypes available, 16 (24%) were partially or fully concordant with the NIPT result, 4 (6%) had aneuploidy on a reference chromosome, and 47 (70%) had normal fetal chromosomes, in which 5/47 had maternal malignancies reported. One case of maternal mosaic trisomy 8 was also detected. Of cases with no fetal karyotype information, ten had an abnormal clinical outcome, one was a normal live birth, and one reported maternal malignancy.
conclusionsNoninvasive prenatal test results of autosomal monosomy or multiple aneuploidies are rare but have a diversity of underlying biologic causes. Some reflect the fetal karyotype; some reflect the presence of other maternal or fetal chromosome abnormalities, and a small number are linked to maternal disease.
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