Qu Suzhen, Wang Li, Cai Aojie, Cui Siying, Bai Nan, Liu Ning, Kong Xiangdong
a Center for Genetics and Prenatal Diagnosis , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , Henan , China.
J Matern Fetal Neonatal Med. 2019 Jan;32(1):1-10. doi: 10.1080/14767058.2017.1367379. Epub 2017 Oct 16.
The aim of this study is to explore the cause of miscarriage, providing risk assessment to guide the next pregnancy.
Four hundred eighty-four products-of-conception (POC) samples were analyzed by single nucleotide polymorphism (SNP) array, and peripheral blood samples of couples were collected for karyotyping or fluorescence in situ hybridization (FISH) analysis.
Four hundred sixty-eight of the 484 (96.7%) fresh POC samples were successfully analyzed using SNP-array. The rate of clinically significant chromosomal abnormalities were 58.3% (274/468), in which rates of aneuploidy, polyploidy, partial aneuploidy, uniparental isodisomy (isoUPD), and pathogenic microdeletion/microduplication were 43.4% (203/468), 8.8% (41/468), 3.6% (17/468), 1.9% (9/48), and 0.9% (4/468), respectively. The percentage of embryonic chromosomal abnormalities significantly increased with maternal age of patients older than 35 years old. Among 468 couples, 12 major chromosomal rearrangements were detected by G-banding, including nine reciprocal translocations, two Robertsonian translocations, and one superfemale.
Chromosome abnormality is the main causes of early miscarriage, and aneuploidies are the most common type of chromosomal abnormalities. Application of SNP array and karyotyping in early miscarriage can provide more genetic information about miscarriage, providing risk assessment to guide the next pregnancy.
本研究旨在探讨流产原因，进行风险评估以指导下一胎妊娠。
采用单核苷酸多态性（SNP）芯片分析484份妊娠产物（POC）样本，并采集夫妇外周血样本进行核型分析或荧光原位杂交（FISH）分析。
484份新鲜POC样本中的468份（96.7%）成功采用SNP芯片进行分析。具有临床意义的染色体异常率为58.3%（274/468），其中非整倍体、多倍体、部分非整倍体、单亲二体（isoUPD）及致病性微缺失/微重复的发生率分别为43.4%（203/468）、8.8%（41/468）、3.6%（17/468）、1.9%（9/48）和0.9%（4/468）。胚胎染色体异常百分比随患者母亲年龄超过35岁而显著增加。468对夫妇中，通过G显带检测到12例主要染色体重排，包括9例相互易位、2例罗伯逊易位和1例超雌。
染色体异常是早期流产的主要原因，非整倍体是最常见的染色体异常类型。SNP芯片和核型分析应用于早期流产可提供更多关于流产的遗传信息，进行风险评估以指导下一胎妊娠。
