ArticleThe Journal of clinical endocrinology and metabolism2014
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
Article in The Journal of clinical endocrinology and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
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Who cites it
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 322 citations in OpenAlex.
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2018Guideline
- Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.Prenatal diagnosis · 2015Trial
- Sexually-dimorphic offspring outcomes following antenatal corticosteroids: a review of the evidence for congenital adrenal hyperplasia and preterm birth risk.Biology of sex differences · 2026Review
- [Congenital adrenal hyperplasia].Problemy endokrinologii · 2026Review
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
- Identification of a Homozygous Variant in theGenes · 2025Article
- Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.Journal of the Endocrine Society · 2025Review
- Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.Genome research · 2025Review
- Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in NewbornsJournal of clinical research in pediatric endocrinology · 2025Review
- Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review.Frontiers in endocrinology · 2025Review
- Exploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study.Medicina (Kaunas, Lithuania) · 2024Article
- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.Annals of pediatric endocrinology & metabolism · 2024Article
- Review
- Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.Molecular diagnosis & therapy · 2023Article
- Review
- Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility.Heliyon · 2023Review
- Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.Diagnostics (Basel, Switzerland) · 2023Review
- Article
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
25 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
contextCongenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero.
objectiveThe objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. PATIENTS: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited.
designCell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes.
resultsIn all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation.
conclusionsMPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders.
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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.