ArticleMolecular medicine (Cambridge, Mass.)2018
Non-invasive fetal sex diagnosis in plasma of early weeks pregnants using droplet digital PCR.
Article in Molecular medicine (Cambridge, Mass.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 45 citations in OpenAlex.
- Digital PCR in forensic genetics: principles, applications, and challenges.International journal of legal medicine · 2026Review
- Quantitative Estimation of Low-Abundance Targets in Engineered Systems and Environmental Samples: Comparative Study Between Droplet Digital PCR and Real-Time PCR.Microorganisms · 2025Article
- A Generalized Approach to Genetic Sex Detection of Uniparous Mammalian Species, With High Potential in Foetal Sex Determination Using Circulating Cell-Free DNA of Maternal Plasma.Veterinary medicine and science · 2025Article
- Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.Orphanet journal of rare diseases · 2023Article
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- 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
- Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report.World journal of clinical cases · 2022Article
- The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review.International journal of reproductive biomedicine · 2022Review
- Application of Droplet Digital PCR Technology in Muscular Dystrophies Research.International journal of molecular sciences · 2022Review
- Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.International journal of molecular sciences · 2022Article
- Nanoparticle-Enhanced Surface Plasmon Resonance Imaging Enables the Ultrasensitive Detection of Non-Amplified Cell-Free Fetal DNA for Non-Invasive Prenatal Testing.Analytical chemistry · 2022Article
- Current Overview of Osteogenesis Imperfecta.Medicina (Kaunas, Lithuania) · 2021Review
- Assessment of Fetal Rhesus D and Gender with Cell-Free DNA and Exosomes from Maternal Blood.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?Frontiers in genetics · 2021Review
- Detection of cell-free foetal DNA fraction in female-foetus bearing pregnancies using X-chromosomal insertion/deletion polymorphisms examined by digital droplet PCR.Scientific reports · 2020Article
- Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.Prenatal diagnosis · 2020Review
- Non-invasive Prenatal Testing Using Fetal DNA.Molecular diagnosis & therapy · 2019Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFetal sex determination is useful for families at risk of X-linked disorders, such as Duchenne muscular dystrophy, adrenal hypoplasia, hemophilia. At first, this could be obtained through invasive procedures such as amniocentesis and chorionic villus sampling, having a 1% risk of miscarriage. Since the discovery of cell-free fetal DNA (cffDNA) in maternal plasma, noninvasive prenatal testing permits the early diagnosis of fetal sex through analysis of cffDNA. However, the low amount of cffDNA relative to circulating maternal DNA requires highly sensitive molecular techniques in order to perform noninvasive prenatal diagnosis. In this context we employed droplet digital PCR (ddPCR) in order to evaluate the earliest possible fetal sex determination from circulating DNA extracted from plasma of pregnant women at different gestational ages.
methodsWe identified the fetal sex on cffDNA extracted from 29 maternal plasma samples at early gestational ages, several of them not suitable for qPCR determination, using ddPCR designed for SRY gene target.
resultsAll maternal plasma samples were determined correctly for SRY gene target using ddPCR even at very early gestational age (prior to 7 weeks).
conclusionsThe ddPCR is a robust, efficient and reliable technology for the earliest possible fetal sex determination from maternal plasma.
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