ArticleEuropean journal of human genetics : EJHG2017
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 99 citations in OpenAlex.
- Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.Annals of medicine · 2026Article
- Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders.Diagnostics (Basel, Switzerland) · 2026Article
- A bespoke non-invasive approach to predict fetal genotype in pregnancy.Frontiers in medicine · 2026Article
- Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Genome medicine · 2025Article
- In utero therapy for spinal muscular atrophy: closer to clinical translation.Brain : a journal of neurology · 2025Review
- Prenatal Management of Spinal Muscular Atrophy in the Era of Genetic Screening and Emerging Opportunities in In Utero Therapy.Biomedicines · 2025Review
- A relative-independent haplotype derivation method applied for noninvasive prenatal testing for chromosomal rearrangements in a pregnant carrier.Molecular genetics and genomics : MGG · 2025Article
- Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism.Seminars in immunopathology · 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
- Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.Archives of gynecology and obstetrics · 2024Article
- Fetal gene therapy.Journal of inherited metabolic disease · 2024Review
- Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.Molecular diagnosis & therapy · 2023Article
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.Diagnostics (Basel, Switzerland) · 2023Review
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- Article
- Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells.Journal of nanobiotechnology · 2022Review
- Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks.Journal of personalized medicine · 2022Review
- 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
- Review
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular atrophy (SMA). Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single-nucleotide polymorphisms across a 6 Mb genomic window on chromosome 5 containing the SMN1 gene. Maternal, paternal and proband DNA samples were also tested for haplotyping purposes. Sequencing data was analysed by relative haplotype dosage (RHDO). Six pregnant SMA carriers and 10 healthy pregnant donors were recruited through the NIPSIGEN study. Inheritance of the maternally and paternally derived alleles of the affected SMN1 gene was determined in the foetus by RHDO analysis for autosomal-recessive disorders. DNA from the proband (for SMA carriers) or an invasively obtained foetal sample (for healthy pregnant donors) was used to identify the maternal and paternal reference haplotypes associated with the affected SMN1 gene. Results for all patients correlated with known outcomes and showed a testing specificity and sensitivity of 100%. On top of showing high accuracy and reliability throughout the stages of validation, our novel test for NIPD of SMA is also affordable and viable for implementation into clinical service.
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Registered trials
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