ArticleAmerican journal of human genetics2019
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.BMC pregnancy and childbirth · 2026Pooled it
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Novel and High-Throughput Method of Isolating Single Fetal Cells Using FACS for NIPT.Prenatal diagnosis · 2026Article
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- Color Doppler Ultrasound Parameters of Fetal Umbilical Artery and Middle Cerebral Artery Assist in Diagnosing Hypertensive Disorder of Pregnancy and Evaluating the Severity in Women of Advanced Maternal Age.Echocardiography (Mount Kisco, N.Y.) · 2026Article
- Cell-Based and Cell-Free Non-Invasive Prenatal Analysis of Preeclampsia: An Updated Review of Liquid Biopsy.Biomedicines · 2026Review
- Advancements in Liquid Biopsy Technologies for Non-Invasive Detection of Placental Dysfunction and Perinatal Complications: Focus on cfDNA, cfRNA, and Extracellular Vesicles.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2026Review
- Whole-Genome Amplification on Single Circulating Trophoblast Cell.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells.Nucleic acids research · 2025Article
- Biomechanics of circulating cellular and subcellular bioparticles: beyond separation.Cell communication and signaling : CCS · 2024Review
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Gene expression changes in Tay-Sachs disease begin early in fetal brain development.Journal of inherited metabolic disease · 2023Article
- Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases.Life science alliance · 2023Article
- Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.Prenatal diagnosis · 2023Article
- Article
- Genetics in prenatal diagnosis.Singapore medical journal · 2023Review
- Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.Prenatal diagnosis · 2023Article
- Whole-Chromosome Karyotyping of Fetal Nucleated Red Blood Cells Using the Ion Proton Sequencing Platform.Genes · 2022Article
- Circulating trophoblast numbers as a potential marker for pregnancy complications.Prenatal diagnosis · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
It has long been appreciated that genetic analysis of fetal or trophoblast cells in maternal blood could revolutionize prenatal diagnosis. We implemented a protocol for single circulating trophoblast (SCT) testing using positive selection by magnetic-activated cell sorting and single-cell low-coverage whole-genome sequencing to detect fetal aneuploidies and copy-number variants (CNVs) at ∼1 Mb resolution. In 95 validation cases, we identified on average 0.20 putative trophoblasts/mL, of which 55% were of high quality and scorable for both aneuploidy and CNVs. We emphasize the importance of analyzing individual cells because some cells are apoptotic, in S-phase, or otherwise of poor quality. When two or more high-quality trophoblast cells were available for singleton pregnancies, there was complete concordance between all trophoblasts unless there was evidence of confined placental mosaicism. SCT results were highly concordant with available clinical data from chorionic villus sampling (CVS) or amniocentesis procedures. Although determining the exact sensitivity and specificity will require more data, this study further supports the potential for SCT testing to become a diagnostic prenatal test.
Indexed as
Identifiers
What OpenQuestion holds
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.