ArticleArchives of gynecology and obstetrics2021
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Article in Archives of gynecology and obstetrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study.Human genomics · 2026Article
- Exome sequencing for structurally normal fetuses-yields and ethical issues.European journal of human genetics : EJHG · 2023Article
- Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.Frontiers in genetics · 2023Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies.Neurology. Genetics · 2021Article
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound.
methodsThe study cohort was based on cases of chromosomal microarray analyses performed nationwide for the indication of short long bones.
resultsCMA was performed in 66 cases of short long bones. There were 4 cases with a pathogenic/likely pathogenic result (6%). The rate of chromosomal abnormalities was significantly higher compared to the background risk for copy number variations (CNVs) in pregnancies with no sonographic anomalies (P < 0.001). The yield of CMA in our cohort was significantly higher for both isolated and non-isolated cases, for cases in which the lowest estimated bone length percentile was above the 3rd percentile (below 5th percentile), and for cases diagnosed with short long bones after 22 weeks but not for cases diagnosed after 24 weeks.
conclusionThe yield of CMA in cases with short long bones (both isolated and non-isolated) is significantly higher than the background risk for chromosomal anomalies in pregnancies with no sonographic anomalies. This suggests that CMA should be offered in pregnancies with a diagnosis of fetal short long bones.
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