ReviewGenetics in medicine : official journal of the American College of Medical Genetics2018
Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis.Prenatal diagnosis · 2023Trial
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Cancer in pregnancy: FIGO Best practice advice and narrative review.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Review
- Factors, pregnancy outcomes, and management associated with non-reportable results in prenatal cell-free DNA testing.Archives of gynecology and obstetrics · 2025Article
- An overview of current prenatal genetic screening and diagnosis guidelines.Pregnancy (Hoboken, N.J.) · 2025Review
- Analysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencing.Heliyon · 2025Article
- Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Article
- Additional value of advanced ultrasonography in pregnancies with two inconclusive cell-free DNA draws.Prenatal diagnosis · 2022Article
- Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.Prenatal diagnosis · 2022Article
- Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.Journal of clinical medicine · 2022Review
- Expanded knowledge of cell-free DNA biology: potential to broaden the clinical utility.Extracellular vesicles and circulating nucleic acids · 2022Review
- The Effect of Elevated Alanine Transaminase on Non-invasive Prenatal Screening Failures.Frontiers in medicine · 2022Article
- Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis.Frontiers in genetics · 2022Article
- Genome-wide cell-free DNA screening: a focus on copy-number variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases.Clinical case reports · 2021Article
- Noninvasive prenatal testing: from aneuploidy to single genes.Human genetics · 2020Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy. Similarly, maternal tumors, both benign and malignant, can release DNA fragments that contain duplications or deletions. Bioinformatics algorithms can subsequently interpret the raw sequencing data incorrectly, resulting in false-positive test reports of fetal monosomies or test failures. Maternal sex-chromosome abnormalities, both constitutional and somatic, can generate results that are discordant with fetal ultrasound examination or karyotype. Maternal copy-number variants and mosaicism for autosomal aneuploidies can also skew interpretation. A maternal etiology should therefore be considered in the differential diagnosis of prenatal cell-free DNA test failures, false-positive and false-negative sequencing results. Further study is needed regarding the clinical utility of reporting maternal incidental findings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.