PMID- 33792848 OWN - NLM STAT- MEDLINE DCOM- 20220104 LR - 20240402 IS - 1179-2000 (Electronic) IS - 1177-1062 (Print) IS - 1177-1062 (Linking) VI - 25 IP - 3 DP - 2021 May TI - Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage. PG - 351-359 LID - 10.1007/s40291-021-00523-9 [doi] AB - INTRODUCTION: The single most common cause of miscarriage is genetic abnormality. OBJECTIVE: We 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. METHODS: A total of 63 miscarriage specimens were included. Conventional karyotyping, array-CGH, and SNP-array were performed and the results compared. RESULTS: Genetic 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. CONCLUSIONS: Although 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. FAU - Lee, Jong-Mi AU - Lee JM AD - Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. AD - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Shin, So Young AU - Shin SY AD - Department of Obstetrics and Gynecology, College of Medicine, Kyung Hee University Hospital, Kyung Hee University, 23, Kyung Hee Dae-ro, Dongdaemun-gu, Seoul, 02447, South Korea. FAU - Kim, Guk Won AU - Kim GW AD - Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Kim, Woo Jeng AU - Kim WJ AD - Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Wie, Jeong Ha AU - Wie JH AD - Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Hong, Subeen AU - Hong S AD - Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Kang, Dain AU - Kang D AD - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Choi, Hayoung AU - Choi H AD - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Yim, Jisook AU - Yim J AD - Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. AD - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Kim, Yonggoo AU - Kim Y AD - Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. AD - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. FAU - Kim, Myungshin AU - Kim M AUID- ORCID: 0000-0001-8632-0168 AD - Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. microkim@catholic.ac.kr. AD - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. microkim@catholic.ac.kr. FAU - Park, In Yang AU - Park IY AD - Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, 222 Banpodaero, Seocho-gu, Seoul, 06591, South Korea. ooooobbbbb@catholic.ac.kr. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20210401 PL - New Zealand TA - Mol Diagn Ther JT - Molecular diagnosis & therapy JID - 101264260 SB - IM MH - Abortion, Spontaneous/*diagnosis/genetics MH - Adult MH - Chromosome Aberrations/*statistics & numerical data MH - Comparative Genomic Hybridization MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Incidence MH - Karyotyping MH - Maternal Age MH - *Polymorphism, Single Nucleotide MH - Polyploidy MH - Pregnancy MH - Prospective Studies MH - Republic of Korea/epidemiology PMC - PMC8139896 COIS- J-ML, SYS, GWK, WJK, JHW, SBH, DK, HC, JY, YK, MK and IYP have no conflicts of interest that are directly relevant to the content of this article. EDAT- 2021/04/02 06:00 MHDA- 2022/01/05 06:00 PMCR- 2021/04/01 CRDT- 2021/04/01 12:40 PHST- 2021/03/06 00:00 [accepted] PHST- 2021/04/02 06:00 [pubmed] PHST- 2022/01/05 06:00 [medline] PHST- 2021/04/01 12:40 [entrez] PHST- 2021/04/01 00:00 [pmc-release] AID - 10.1007/s40291-021-00523-9 [pii] AID - 523 [pii] AID - 10.1007/s40291-021-00523-9 [doi] PST - ppublish SO - Mol Diagn Ther. 2021 May;25(3):351-359. doi: 10.1007/s40291-021-00523-9. Epub 2021 Apr 1.