ArticleGenetics in medicine : official journal of the American College of Medical Genetics2009
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 226 citations in OpenAlex.
- Navigating the spectrum: a comprehensive approach to fetal lung abnormalities in ultrasound and magnetic resonance imaging.Pediatric radiology · 2026Review
- Pathways to enhancing prenatal diagnosis of skeletal dysplasias.Pregnancy (Hoboken, N.J.) · 2026Review
- Genetic Disorders Detectable by Fetal MRI: A Review.Diagnostics (Basel, Switzerland) · 2026Review
- Therapeutic Termination of Pregnancy Under the Umbrella of Environmental, Socio-Economic Factors and High-Risk Pregnancy.Diagnostics (Basel, Switzerland) · 2026Review
- Society for Maternal-Fetal Medicine Consult Series #75: Evaluation and management of non-immune hydrops fetalis.Pregnancy (Hoboken, N.J.) · 2026Article
- Antenatal unilateral upper limb acromesomelic dysplasia.Journal of ultrasound · 2026Article
- Antenatal ultrasound cannot detect all congenital Anomalies: Clinical limitations, India-specific barriers, and medicolegal perspectives.Journal of hand and microsurgery · 2025Review
- Article
- Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.Quantitative imaging in medicine and surgery · 2024Article
- Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.Archives of gynecology and obstetrics · 2024Article
- Quantitative study of the ossification centers of the body of sphenoid bone in the human fetus.Scientific reports · 2024Article
- Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.Genes · 2024Article
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.Pediatric radiology · 2024Article
- Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.International medical case reports journal · 2024Article
- A Sporadic Case ofGenes · 2023Review
- Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.Annals of medicine and surgery (2012) · 2023Article
- The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study.Orphanet journal of rare diseases · 2023Article
- Accuracy of Multimodality Fetal Imaging (US, MRI, and CT) for Congenital Musculoskeletal Anomalies.Children (Basel, Switzerland) · 2023Article
- Characterization of a novel deep-intronic variant inCold Spring Harbor molecular case studies · 2022Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia.
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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.