ReviewJournal of personalized medicine2022
Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks.
Review in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses 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.
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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
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.Orphanet journal of rare diseases · 2026Pooled it
- Attitude towards assisted reproductive technology: acceptance of donors eggs, sperms, and embryos as treatment of human infertility: a systematic review and meta-analysis.Reproductive health · 2024Pooled it
- Should acupuncture become a complementary therapy in the treatment of uterine fibroid: a systematic review and meta-analysis of randomized controlled trials.Frontiers in medicine · 2023Pooled it
- Advances in the application of assisted reproductive technology in fertility preservation for female patients with malignant tumours of the reproductive systems.Annals of medicine · 2026Review
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- Cell-free DNA in precision medicine: overcoming biological barriers through integrated nanoparticle platforms for simultaneous diagnosis and therapy.Journal of nanobiotechnology · 2026Review
- Community awareness of assisted reproductive technologies in Jordan: educational gaps and knowledge levels.BMC public health · 2026Article
- Clinical Presentation and Treatment of Hyperemesis Gravidarum in a Lady Carrying Twins in the First Trimester: A Case Reports.Clinical case reports · 2026Article
- Prenatal Ultrasound Diagnosis of Binder Phenotype: Case Series of Seven Patients and Literature Review.Reports (MDPI) · 2025Article
- From Petri Dish to Primitive Heart: How IVF Alters Early Cardiac Gene Networks and Epigenetic Landscapes.Biomedicines · 2025Review
- Immunohistochemical Analysis of Placental Tissue of Women Infected with SARS-CoV-2 During Pregnancy-A Prospective Clinical Study.International journal of molecular sciences · 2025Article
- High-frequency ultrasound shear wave dispersion imaging for male infertility: a pilot study.Quantitative imaging in medicine and surgery · 2025Article
- Article
- SARS-CoV-2 Infection and Its Association with Maternal and Fetal Redox Status and Outcomes: A Prospective Clinical Study.Journal of clinical medicine · 2025Article
- Decoding the Puzzle of Male Infertility: The Role of Infection, Inflammation, and Autoimmunity.Diagnostics (Basel, Switzerland) · 2025Review
- Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.BMC medical genomics · 2025Article
- Non-Invasive Prenatal Testing (NIPT): A Paradigm Shift in Prenatal Care.International journal of preventive medicine · 2025Review
- Maternal age and progesterone levels at trigger day as independent predictors of clinical pregnancy in poor ovarian responders undergoing IVF/ICSI: a retrospective analysis.Frontiers in endocrinology · 2025Article
- Knowledge and associated factors of patients toward informed consent in obstetric and gynecologic surgical procedures at Debre Markos Comprehensive Specialized Hospital, Ethiopia.Frontiers in surgery · 2025Article
- Vitamin D Receptor-Interplay in COVID-19-Negative, -Infected, and -Vaccinated Women during Pregnancy.Journal of clinical medicine · 2024Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother's blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes is already rather well-established. At the same time, considerable interest in its diagnostic value has emerged from this literature review, which recommends the elaboration of appropriate validation studies, as well as a broad discourse, involving all stakeholders, to address the legal and ethical complexities that such techniques entail.
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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.