ArticleJournal of clinical laboratory analysis2025
Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers.
Article in Journal of clinical laboratory analysis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- 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
- Predicting down syndrome: a comparative evaluation of nasal bone length in mid-trimester pregnancy.BMC pregnancy and childbirth · 2026Article
- The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.International journal of women's health · 2026Article
- Fetal Copy Number Variant Detection in Pregnancies with Ultrasound Soft Markers: A Maternal Age-Stratified Retrospective Study.International journal of general medicine · 2026Article
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review.International journal of women's health · 2026Article
- Prenatal diagnosis of fetuses with ultrasound soft markers.BMC pregnancy and childbirth · 2025Article
- A simple nomogram tool for predicting fetal chromosomal abnormalities based on ultrasound soft markers: a research note.BMC research notes · 2025Article
- Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies.Frontiers in medicine · 2025Article
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5 authors.
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Abstract
objectiveTo explore and evaluate the value of chromosomal microarray analysis (CMA) in fetuses with abnormal ultrasound soft markers.
methodsA retrospective study was conducted on 193 fetuses with abnormal ultrasound soft markers who received prenatal diagnosis at Meizhou People's Hospital, between October 2022 and February 2024. Genetic detection of fetal specimens obtained by ultrasound-guided puncture was carried out. The detection rates of karyotype analysis and CMA for chromosomal abnormalities in different ultrasonic abnormalities were analyzed.
resultsOf the 193 fetuses, there were 77 (39.9%) fetuses with increased nuchal translucency(NT) thickness, 33 (17.1%) with ventriculomegaly, 29 (15.0%) with nasal bone hypoplasia, followed by choroid plexus cyst, pyelic separation, echogenic bowel, single umbilical artery, with persistent left superior vena cava, and persistent right umbilical vein. Aneuploidy was mainly found in fetuses with increased NT thickness or and nasal bone hypoplasia, while P/LP CNVs were mainly concentrated in fetuses with increased NT thickness or ventriculomegaly. The detection rate of karyotype was 5.7% (11/193), the detection rate of aneuploidy plus P/LP CNVs in fetuses with abnormal ultrasonic soft markers by CMA was 10.9% (21/193), and the additional detection rate of CMA was 5.2%.
conclusionsCMA can significantly improve the detection rate of chromosomal abnormalities in fetuses with abnormal ultrasonic soft markers compared with karyotype analysis. There was a significant difference in detection rates of chromosomal abnormality between CMA and karyotype analysis in the single ultrasonic abnormality group, but none in the multiple ultrasonic abnormalities group.
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