ArticleMolecular cytogenetics2012
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.
Article in Molecular cytogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.American journal of medical genetics. Part A · 2014Pooled it
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
- Assessing the clinical application value of SNP-array in fetal central nervous system malformations.Human genomics · 2025Article
- Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.PloS one · 2025Article
- Single Nucleotide Polymorphism array analysis for fetuses from balanced translocation carriers at the second trimester.Heliyon · 2024Article
- Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.BMC medical genomics · 2024Review
- Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
- Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.Scientific reports · 2023Article
- Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.The application of clinical genetics · 2023Article
- Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios.BMC medical genomics · 2022Article
- 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
- Single nucleotide polymorphism array in genetic evaluation of fetal ultrasound abnormalities: a retrospective follow-up study.American journal of translational research · 2022Article
- A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions.Scientific reports · 2021Article
- REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.Molecular genetics & genomic medicine · 2020Article
- Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China.Molecular genetics & genomic medicine · 2020Article
- Genetic testing on products of conception and its relationship with body mass index.Journal of assisted reproduction and genetics · 2020Article
- Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.Clinical case reports · 2017Article
- "Classical cytogenetics" is not equal to "banding cytogenetics".Molecular cytogenetics · 2017Article
- Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.European journal of human genetics : EJHG · 2016Article
- Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.Molecular cytogenetics · 2016Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. FINDINGS/
resultsFrom May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS) (http://www.Illumina.com) analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection). Pre-test genetic counselling was offered in all cases.In 24/207 (11,6%) foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7%) cases. The array results were achieved within 1-2 weeks after amniocentesis.
conclusionsPrenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb) in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb). Since karyotyping would have missed 66% (16/24) of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.
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