Reproductive medicine and biology | |
Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping | |
article | |
Takema Kato1  Shunsuke Miyai1  Hideki Suzuki2  Yuuri Murase2  Shiyo Ota3  Hiroko Yamauchi3  Michiko Ammae3  Tatsuya Nakano3  Yoshiharu Nakaoka3  Tomoko Inoue4  Yoshiharu Morimoto4  Aisaku Fukuda5  Takafumi Utsunomiya6  Haruki Nishizawa7  Hiroki Kurahashi1  | |
[1] Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University;OVUS Inc.;IVF Namba Clinic;HORAC Grand Front Osaka Clinic;IVF Osaka Clinic;St. Luke Clinic;Department of Obstetrics and Gynecology, Fujita Health University School of Medicine | |
关键词: assisted reproductive technology; karyotype; next-generation sequencing; product of conception; triploidy; | |
DOI : 10.1002/rmb2.12449 | |
学科分类:工业工程学 | |
来源: Wiley | |
【 摘 要 】
Purpose Since chromosomal abnormalities can be detected in more than half of miscarriages, cytogenetic testing of the product of conception (POC) can provide important information when preparing for a subsequent pregnancy. Conventional karyotyping is the common diagnostic method for a POC but can be problematic due to the need for cell culture. Methods We here conducted shallow whole-genome sequencing (sWGS) using next-generation sequencing (NGS) for alternative POC cytogenomic analysis. Since female euploidy samples can include 69,XXX triploidy, additional QF-PCR was performed in these cases. Results We here analyzed POC samples from miscarriages in 300 assisted reproductive technology (ART) pregnancies and detected chromosomal abnormalities in 201 instances (67.0%). Autosomal aneuploidy (151 cases, 50.3%) was the most frequent abnormality, consistent with prior conventional karyotyping data. Mosaic aneuploidy was detected in seven cases (2.0%). Notably, the frequency of triploidy was 2.3%, 10-fold lower than the reported frequency in non-ART pregnancies. Structural rearrangements were identified in nine samples (3%), but there was no case of segmental mosaicism. Conclusions These data suggest that NGS-based sWGS, with the aid of QF-PCR, is a viable alternative karyotyping procedure that does not require cell culture. This method could also assist with genetic counseling for couples who undergoes embryo selection based on PGT-A data.
【 授权许可】
CC BY|CC BY-NC|CC BY-NC-ND
【 预 览 】
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