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P01.01: The role of single‐nucleotide polymorphism chromosomal microarray analysis in evaluation of early pregnancy loss: a prospective study
Author(s) -
Kim S.,
Shin S.,
Park I.,
Shin J.
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.20874
Subject(s) - products of conception , snp array , miscarriage , medicine , karyotype , abortion , snp , single nucleotide polymorphism , aneuploidy , microarray , obstetrics , pregnancy , prospective cohort study , concordance , gynecology , genetics , biology , chromosome , pathology , genotype , gene , gene expression
Objectives: Genetic testing in spontaneous abortions is invaluable as it may eliminate the need for further investigation and provide a better recurrence risk estimate for the couple. Conventional karyotyping is able to detect whole chromosomal aneuploidy or large deletions and duplications but has limitations because chromosomal microdeletions or microduplications will be undetected. The role of DNA microarray in evaluation of spontaneous abortion is not clear so far. Therefore we conducted a prospective study to identify chromosomal abnormalities in spontaneous abortion using a high-resolution single-nucleotide polymorphism-based microarray (SNP-array) platform. Methods: From November 2017 to July 2018, we sampled and analysed 64 fresh specimens of products of concept from patients with spontaneous abortion at Seoul St. Mary’s hospital. Patients’ specimens were obtained by medical treatment using misoprostol. Conventional karyotyping and SNP-array analysis using HumanCytoSNP-12SNP array were performed for each specimen. Results: The mean gestational age at miscarriage evaluated by ultrasound was 8+5 weeks (range: 5+6 ∼ 16+6 weeks). 30 out of 64 cases (46.9%) are recurrent pregnancy loss. Through SNP array and conventional karyotyping, 32 cases were found to have abnormal chromosomes, which acocount for 50.0% of all the cases. The rates of aneuploidy, polyploidy, and mosaicism were 31.3% (20/64), 4.7% (3/64), and 7.88% (5/64), respectively. While karyotyping failed to analyse in 15 out of 64 cases (23.4%), all specimens were successfully analysed with SNP-array. 11 karyotyping results out of 49 cases are not consistent with those of SNP-array and 8 inconsistent results are missed by SNP-array. Conclusions: The result of this study suggests that combination of conventional karyotyping and SNP-array will be helpful in the identification of genetic causes and chromosomal abnormalities in early pregnancy loss.