ArticlePloS one2016
Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 50 citations in OpenAlex.
- Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.Thrombosis journal · 2026Review
- Implementation of third-generation digital PCR for non-invasive prenatal diagnosis of sickle cell disease and early detection. Pilot study.Frontiers in medicine · 2026Article
- Current Advances in Genetic Testing for Spinal Muscular Atrophy.Current genomics · 2023Review
- Prenatal genetic diagnosis of monogenic diseases.Advances in laboratory medicine · 2023Article
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- Applying amplification refractory mutation system technique to detecting cell-free fetal DNA for single-gene disorders purpose.Frontiers in genetics · 2023Article
- Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.Clinical science (London, England : 1979) · 2022Article
- The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review.International journal of reproductive biomedicine · 2022Review
- Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.International journal of molecular sciences · 2022Article
- Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.BMC medical genomics · 2021Article
- Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β-thalassemia by a novel method of noninvasive prenatal testing.Prenatal diagnosis · 2021Article
- Genome-Wide Noninvasive Prenatal Diagnosis of SNPs and Indels.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Ante-natal counseling in phacomatoses.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends.Computational and structural biotechnology journal · 2020Review
- 5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.Frontiers in endocrinology · 2020Review
- Article
- Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique.Hematology reports · 2019Article
- A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2019Article
- Non-invasive Prenatal Testing Using Fetal DNA.Molecular diagnosis & therapy · 2019Review
- Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.Molecular cytogenetics · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo date, non-invasive prenatal diagnosis (NIPD) of monogenic disorders has been limited to cases with a paternal origin. This work shows a validation study of the Droplet Digital PCR (ddPCR) technology for analysis of both paternally and maternally inherited fetal alleles. For the purpose, single nucleotide polymorphisms (SNPs) were studied with the only intention to mimic monogenic disorders.
methodsNIPD SNP genotyping was performed by ddPCR in 55 maternal plasma samples. In 19 out of 55 cases, inheritance of the paternal allele was determined by presence/absence criteria. In the remaining 36, determination of the maternally inherited fetal allele was performed by relative mutation dosage (RMD) analysis.
resultsddPCR exhibited 100% accuracy for detection of paternal alleles. For diagnosis of fetal alleles with maternal origin by RMD analysis, the technology showed an accuracy of 96%. Twenty-nine out of 36 were correctly diagnosed. There was one FP and six maternal plasma samples that could not be diagnosed. DISCUSSION: In this study, ddPCR has shown to be capable to detect both paternal and maternal fetal alleles in maternal plasma. This represents a step forward towards the introduction of NIPD for all pregnancies independently of the parental origin of the disease.
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