ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Article
- A retrospective single center analysis of fetuses with region of homozygosity detected by single nucleotide polymorphism array.Scientific reports · 2025Article
- Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.Archives of gynecology and obstetrics · 2024Article
- Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications.Scientific reports · 2024Article
- Comparison of Chromosomal Microarray Analysis and Noninvasive Prenatal Testing in Pregnant Women with Fetal Ultrasonic Soft Markers.Risk management and healthcare policy · 2024Article
- Non-invasive prenatal testing (NIPT): is routinization problematic?BMC medical ethics · 2023Article
- Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China.Molecular cytogenetics · 2023Article
- Exome sequencing for structurally normal fetuses-yields and ethical issues.European journal of human genetics : EJHG · 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
- Karyotyping and Chromosomal Microarray Analysis in Women Requesting Amniocentesis for Isolated Sonographic Soft Markers or Advanced Maternal Age.Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH · 2021Article
- Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies.Neurology. Genetics · 2021Article
- Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers.Medical science monitor : international medical journal of experimental and clinical research · 2021Article
- A study of normal copy number variations in Israeli population.Human genetics · 2021Article
- Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers.BMC medical genomics · 2021Article
- Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?International journal of women's health · 2021Article
- Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000-2019) and Israel (2011-2019).Frontiers in medicine · 2021Article
- The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.Journal of clinical laboratory analysis · 2020Article
- Genetic diagnosis in the fetus.Journal of perinatology : official journal of the California Perinatal Association · 2020Review
- Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.Journal of clinical laboratory analysis · 2020Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the diagnostic yield of chromosomal microarray (CMA) in pregnancies with normal ultrasound.
methodsThis retrospective cohort analysis included all pregnancies with normal ultrasound undergoing CMA testing between the years 2010 and 2016. We calculated the rate of detection of clinically significant CMA findings in the whole cohort and according to various indications.
resultsOf 5541 CMA analyses, clinically significant findings were yielded in 78 cases (1.4%). Of these, 31 (39.7%) variants could have theoretically been detected by karyotyping (e.g., sized above 10 Mb), and 28 (35.9%) by noninvasive prenatal screening aimed at five common aneuploidies. Of the 47 submicroscopic findings detectable by CMA only, the majority (37 cases, 78.7%) represented known recurrent syndromes. Detection of clinically significant CMA findings in women with no indication for invasive testing was 0.76% (21/2752), which was significantly lower compared with 1.8% in advanced maternal age group (41/2336), 2.8% in abnormal biochemical serum screening (6/211), and 4.1% (10/242) in fetuses with sonographic soft markers.
conclusionClinically significant CMA aberrations are detected in 1 of 71 pregnancies with normal ultrasound, and in 1 of 131 women with no indication for invasive testing. Thus, CMA might be recommended a first-tier test in pregnancies with normal ultrasound.
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