ArticleBMC pregnancy and childbirth2021
Cell-free fetal DNA testing and its correlation with prenatal indications.
Article in BMC pregnancy and childbirth, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Factors Associated with Gestational Week of Diagnosis Among Pregnancies with Prenatally Recognized Congenital Heart Disease: A Tertiary Referral-Centre Cohort Study.Children (Basel, Switzerland) · 2026Article
- Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age.Scientific reports · 2026Article
- [Extracellular vesicles and their potential in ophthalmology].Die Ophthalmologie · 2026Review
- Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates.The application of clinical genetics · 2026Article
- Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand.BMC pregnancy and childbirth · 2025Article
- Genotype imputation from low-coverage data for medical and population genetic analyses.Genome research · 2025Article
- Application of non-invasive prenatal testing for fetal chromosomal disorders in low-risk pregnancies: a follow-up study in central China.Frontiers in genetics · 2025Article
- Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.PloS one · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Performance of cell free DNA as a screening tool based on the results of first trimester screening.Molecular cytogenetics · 2024Article
- Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China.The Journal of international medical research · 2024Article
- Article
- Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.Molecular diagnosis & therapy · 2023Article
- Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.American journal of human genetics · 2023Review
- Free-Circulating Nucleic Acids as Biomarkers in Patients After Solid Organ Transplantation.Annals of transplantation · 2023Review
- Circulating Microbial Cell-Free DNA in Health and Disease.International journal of molecular sciences · 2023Review
- Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines.Medicina (Kaunas, Lithuania) · 2022Review
- 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
- Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases.Frontiers in genetics · 2022Article
- Fetal DNA Causes Sex-Specific Inflammation From Human Fetal Membranes.Frontiers in physiology · 2022Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe prenatal test of cell-free fetal DNA (cffDNA) is also known as noninvasive prenatal testing (NIPT) with high sensitivity and specificity. This study is to evaluate the performance of NIPT and its clinical relevance with various clinical indications.
methodsA retrospective analysis was conducted on 14,316 pregnant women with prenatal indications, including advanced maternal age (≥35 years), maternal serum screening abnormalities, the thickened nuchal translucency (≥2.5 mm) and other ultrasound abnormalities, twin pregnancy/IVF-ET pregnancy, etc. The whole-genome sequencing (WGS) of maternal plasma cffDNA was employed in this study.
resultsA total of 189 (1.32%) positive NIPT cases were identified, and 113/189 (59.79%)cases were confirmed by invasive prenatal testing. Abnormal serological screening (53.14%) was the most common indication, followed by elderly pregnancy (23.02%). The positive prediction value for T21, T18, T13, sex chromosome abnormalities, other autosomal aneuploidy abnormalities, and CNV abnormalities were 91.84, 68.75,37.50, 66.67, 14.29, and 6.45%, respectively. The positive rate and the true positive rate of nuchal translucency (NT) thickening were the highest (4.17 and 3.33%), followed by the voluntary requirement group (3.49 and 1.90%) in the various prenatal screening indications. The cffDNA concentration was linearly correlated with gestational age (≥10 weeks) and the positive NIPT group's Z-score values.
conclusionswhole-genome sequencing of cffDNA has extremely high sensitivity and specificity for T21, high sensitivity for T18, sex chromosome abnormalities, and T13. It also provides evidence for other abnormal chromosomal karyotypes (CNV and non-21/18/13 autosomal aneuploidy abnormalities). The cffDNA concentration is closely related to the gestational age and determines the specificity of NIPT. Our results highlight NIPT's clinical significance, which is an effective prenatal screening tool for high-quality care of pregnancy.
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