ArticleMolecular diagnosis & therapy2021
Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage.
Article in Molecular diagnosis & therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.Human molecular genetics · 2025Article
- Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis.Annals of medicine · 2023Article
- Chromosome analysis of foetal tissue from 1903 spontaneous abortion patients in 5 regions of China: a retrospective multicentre study.BMC pregnancy and childbirth · 2023Article
- Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.Balkan journal of medical genetics : BJMG · 2023Article
- Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue.Journal of clinical medicine · 2023Article
- The uncertain science of preimplantation and prenatal genetic testing.Nature medicine · 2022Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe single most common cause of miscarriage is genetic abnormality.
objectiveWe conducted a prospective cohort study to compare the performance of conventional karyotyping and chromosomal microarray analysis (CMA) using array comparative genomic hybridization (array-CGH) and single nucleotide polymorphism array (SNP-array) to identify genetic abnormalities in miscarriage specimens.
methodsA total of 63 miscarriage specimens were included. Conventional karyotyping, array-CGH, and SNP-array were performed and the results compared.
resultsGenetic abnormalities were detected in 31 cases (49.2%) by at least one testing modality. Single autosomal trisomy was the most common defect (71.0%), followed by polyploidy (16.1%), multiple aneuploidy (9.7%), and monosomy X (3.2%). Mosaicisms were identified in four cases and confirmed by fluorescence in situ hybridization (FISH) using appropriate probes. SNP-array had a higher detection rate of genetic abnormalities than array-CGH (93.5 vs. 77.4%), and conventional karyotyping had the lowest detection rate (76.0%). SNP-array enabled the detection of all types of genetic abnormalities, including polyploidy.
conclusionsAlthough conventional karyotyping and FISH are still needed, SNP-array represents the first choice for miscarriage because the technique showed excellent performance in the detection of genetic abnormalities and minimized the probability of testing failure as well as time, costs, and labor.
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