ArticleMolecular diagnosis & therapy2020
Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype.
Article in Molecular diagnosis & therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 13 citations in OpenAlex.
- Case Report: Prenatal clues and postnatal evolution: a case of williams syndrome diagnosed following progressive cardiovascular phenotypes.Frontiers in pediatrics · 2026Article
- Prenatal diagnostic value of medium-coverage WGS and clinical Exome sequencing in fetal congenital heart disease.Future science OA · 2025Article
- Prenatal genetic findings using karyotyping and chromosomal microarray analysis in the first-occurrence typical orofacial clefts.Molecular biology reports · 2025Article
- Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease.American journal of medical genetics. Part A · 2025Article
- Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester.Heliyon · 2024Article
- Bovine aortic arch: a potential indicator that may not serve in prenatal diagnosis - a study based on fetal anatomy, genetics, and postnatal clinical outcomes.BMC pregnancy and childbirth · 2024Article
- Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study.Molecular cytogenetics · 2024Article
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 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
- 8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.Molecular genetics & genomic medicine · 2021Article
- Prenatal findings and pregnancy outcome in fetuses with right and double aortic arch. A 10-year experience at a tertiary center.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieObservational
- Associated Chromosomal Abnormalities in Fetuses Diagnosed Prenatally with Right Aortic Arch.Current health sciences journalArticle
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAortic arch abnormalities (AAA) are abnormal embryologic developments of the aorta and its branches. Their outcomes often depend on their association with other congenital diseases and genetic testing results.
objectiveThis study aimed to evaluate the yield of chromosomal microarray analysis (CMA) in fetuses with different patterns of AAA and normal karyotype.
methodsData from 158 pregnancies referred for prenatal CMA testing due to fetal AAA were obtained between April 2016 and April 2019. Fetuses with isolated AAA, AAA accompanied by soft ultrasound markers, and AAA with other ultrasound malformations were classified into groups A, B, and C, respectively. Cases with detectable karyotype aberrations were excluded from the study.
resultsTwenty cases (12.7%) of submicroscopic anomalies were detected in 158 cases with normal karyotype, comprising 16 cases (10.1%) of clinically significant variants, two cases (1.3%) of variants of unknown significance, and two variants (1.3%) that were likely benign. Microdeletion of 22q11.2 accounted for 25% (4/16) of the clinically significant variants. The overall incremental yields by CMA in group A, group B, and group C were 1.8%, 2.3%, and 24.1%, respectively. Except for double aortic arch, the incremental yield of clinical significant findings for each type of AAA in group C was much higher than that in group A and group B. In group A, a clinically significant variant was only detected in one fetus with right aortic arch (RAA) (1.8%, 1/57).
conclusionsIn addition to 22q11.2 microdeletion, many other clinically significant submicroscopic variants are present in fetuses with AAA, especially in fetuses with other ultrasound malformations. Although CMA is always recommended in the presence of any malformation in many countries, our results suggest insufficient evidence to recommend CMA in fetuses with isolated AAA, except for isolated RAA.
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