ArticlePrenatal diagnosis2015
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Article in Prenatal diagnosis, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
60 citing papers in PubMed.
- Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.Prenatal diagnosis · 2016Trial
- Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.Annals of medicine · 2026Article
- Pregnancy and related complications in achondroplasia: a scoping review.BMC pregnancy and childbirth · 2026Article
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- Parental Somatic Mosaicism Detected During Prenatal Diagnosis.Prenatal diagnosis · 2025Article
- 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
- From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.Frontiers in pediatrics · 2025Review
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.International journal of pediatrics · 2024Review
- Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities.Annual review of biomedical data science · 2023Review
- Australian guidelines for the management of children with achondroplasia.Journal of paediatrics and child health · 2023Article
- Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.Diagnostics (Basel, Switzerland) · 2023Review
- Article
- 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): 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
- Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.Cell discovery · 2022Article
- The current applications of cell-free fetal DNA in prenatal diagnosis of single-gene diseases: A review.International journal of reproductive biomedicine · 2022Review
- Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.Prenatal diagnosis · 2022Review
- The fetus in the age of the genome.Human genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
objectiveAccurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders.
methodsAnalysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia.
resultsPCR-RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR-RED.
conclusionNGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR-RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders.
Indexed as
Identifiers
What OpenQuestion holds
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.