Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping

Reproductive medicine and biology

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】

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