ArticleMolecular genetics & genomic medicine2019
Clinical value of genetic analysis in prenatal diagnosis of short femur.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 16 citations in OpenAlex.
- Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.Annals of medicine · 2026Article
- Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study.Human genomics · 2026Article
- Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study.Journal of cellular and molecular medicine · 2023Article
- Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China.Molecular cytogenetics · 2023Article
- Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.Frontiers in genetics · 2023Article
- Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.Prenatal diagnosis · 2022Article
- The femur too short? 1373 fetuses with short femur during second-trimester screening.Archives of gynecology and obstetrics · 2022Article
- ULTRASOUND DIAGNOSIS OF MACROSOMIA AMONG WOMEN WITH GESTATIONAL DIABETES - REVIEW OF THE LITERATURE.Acta clinica Croatica · 2022Review
- 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 should be performed for cases of fetal short long bones detected prenatally.Archives of gynecology and obstetrics · 2021Article
- Clinical value of genetic analysis in prenatal diagnosis of short femur.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes. To improve the accuracy and practicability of diagnosis, we investigated the value of genetic analysis in prenatal diagnosis of short femur.
methodsWe examined chromosomal microarray analysis (CMA) (64 fetuses) and karyotyping (59 fetuses) data retrospectively for short femur without fetal growth restriction (FGR). Genetic testing was conducted for 15 fetuses.
resultsKaryotyping and CMA detected chromosomal aberrations at rates of 13.6% and 27.2%, respectively. Among fetuses with other abnormalities, detection rates were 21.0% higher with CMA than karyotyping. CMA identified chromosomal abnormalities in 36.4% of cases with a FL 2-4 standard deviations (SDs) below the gestational age (GA) mean. Abnormality detection by CMA reached 38.5% in the second trimester. Duplication of 12p, 16p13.1 deletion, and uniparental disomy 16 were identified by CMA in three cases of short femur. Gene sequencing detected clinically notable mutations in 12/15 fetuses, among which 9/12 fetuses had FLs >4 SDs below the GA mean.
conclusionsCMA yielded a higher detection value than karyotyping in fetuses with other abnormalities or a FL 2-4 SDs below the GA mean during the second trimester. Gene sequencing should be performed when FL is >4 SDs below the mean.
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