ArticleAnnals of medicine2022
Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone.
Article in Annals of medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence.Journal of Korean medical science · 2024Pooled it
- The Incremental Yield of CMA over Karyotype in Isolated Absent/Hypoplastic Nasal Bone-A Systematic Review and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2026Review
- Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia.Molecular cytogenetics · 2026Article
- Predicting down syndrome: a comparative evaluation of nasal bone length in mid-trimester pregnancy.BMC pregnancy and childbirth · 2026Article
- Outcomes of Pregnancies with Absent or Hypoplastic Fetal Nasal Bone: A Retrospective Analysis of Prenatal Findings and Perinatal Outcomes.Life (Basel, Switzerland) · 2025Article
- Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies.Frontiers in genetics · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo evaluate the efficiency of chromosomal microarray analysis (CMA) in the prenatal diagnosis of foetuses with isolated absent or hypoplastic nasal bone (NB) in the first and second trimester.
methodsFrom January 2015 to April 2021, foetuses with isolated absent or hypoplastic NB who received invasive prenatal diagnosis were enrolled. The results of CMA were analysed.
resultsThere were 221 foetuses, including 166 cases with isolated absent NB and 55 cases with isolated hypoplastic NB. Twenty-four foetuses (10.9%, 24/221) had an ultrasonic diagnosis in the first trimester and 197 (89.1%, 197/221) had a ultrasonic diagnosis in the second trimester. The overall diagnostic yield of CMA was 9.0% (20/221). Aneuploidies were detected in 13 (5.9%, 13/221) foetuses, including 10 Down syndrome, 2 Klinefelter's syndrome and 1 trisomy 18. Pathogenic copy number variations (CNVs) were detected in seven foetuses (3.2%, 7/221). In addition, variants of unknown significance (VOUS) were detected in four foetuses. The foetuses with isolated absent NB had a higher detection rate of chromosome abnormality than the isolated hypoplastic NB, but the difference was not significant in the statistical analysis (10.2% vs. 5.5%,
conclusionCMA can increase the diagnostic yield of chromosome abnormality, especially pathogenic CNVs for foetuses with isolated absent or hypoplastic NB. CMA should be recommended when isolated absent or hypoplastic NB is suspected antenatally.7.
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