探讨9号染色体臂间反向插入导致异常妊娠的遗传学病因及再生育指导。

选择2023年2月于成都市妇女儿童中心医院因胎儿生长受限和胎儿心脏异常而引产的1例异常妊娠孕妇及其丈夫，以及引产胎儿组织为研究对象。采用染色体微阵列分析(CMA)、外周血G显带染色体核型分析技术、光学基因组图谱技术(OGM)、荧光原位杂交(FISH)技术等遗传学方法，对该家庭成员的9号染色体异常进行序惯检测、分析与验证。本研究通过成都市妇女儿童中心医院伦理委员会批准[审批文号：科研伦审2023(23)号]。受试者及胎儿监护人对所有检测均知情同意。

①对引产胎儿组织CMA检测结果显示，胎儿染色体9q33.2q34.3区存在15.459 Mb片段重复。②孕妇染色体核型分析结果未见异常；丈夫核型可能为46，XY，？ins(9)(p24.3q34.3q33.2)或46，XY，inv(9)(p24.3q33.2)。③对丈夫OGM检测结果显示，其染色体9q34.3q33.2反向插入同1条染色体的9p24.3，并经中期FISH分析进一步验证。丈夫准确核型为46，XY，ins(9)(p24.3q34.3q33.2)。④该夫妻选择辅助生殖技术(ART)助孕，并采取胚胎植入前遗传学检测(PGT)的结果显示，其11个胚胎中，2个为完全正常型胚胎，可优先植入。

引产胎儿组织染色体结构异常的9q33.2q34.3区重复，来自其父亲9号染色体臂间反向插入产生的重组配子。多种遗传学技术联合应用，有利于精确诊断罕见染色体平衡性结构变异，为子代再发风险评估和生育方式选择提供准确的实验室依据。

To explore the genetic causes of abnormal pregnancy caused by pericentric inverted insertion of chromosome 9 and provide guidance for reproduction.

The pregnant woman, her husband and the induced fetal tissues, who underwent induced abortion due to fetal growth restriction and fetal cardiac abnormalities in Chengdu Women′s and Children′s Central Hospital in February 2023, were enrolled in this study. Genetic methods such as chromosome microarray analysis (CMA), peripheral blood G-banding chromosome karyotyping, optical genome mapping (OGM), and fluorescence in situ hybridization (FISH) were used to sequential detect, analyze, and verify the abnormality of chromosome 9 in this family. This study was approved by the Ethics Committee of Chengdu Women′s and Children′s Central Hospital [Approval No. KYLS2023(23)]. Informed consent was obtained from all individuals and guardians of fetal included in this study.

① A 15.459 Mb duplication in the fetal chromosome 9q33.2q34.3 region were detected by CMA in the induced fetal tissues. ② There was no abnormality in the pregnant woman′s chromosome karyotype result, but her husband′s karyotype may be 46, XY, ? ins(9)(p24.3q34.3q33.2) or 46, XY, inv(9)(p24.3q33.2). ③ The husband′s OGM test results showed 9q34.3q33.2 was inversely inserted into chromosome 9p24.3 of the same chromosome, which was further verified by mid-stage FISH analysis. The husband′s accurate karyotype was 46, XY, ins(9)(p24.3q34.3q33.2). ④ The couple chose assisted reproductive technology (ART) for pregnancy assistance, and the results of preimplantation genetic testing (PGT) showed that among their 11 embryos, 2 were normal embryos and could be implanted preferentially.

The 9q33.2q34.3 duplication of fetal tissue comes from the recombinant gametes produced by pericentric inverted insertion of the father′s chromosome 9. The combination of multiple genetic technologies is conducive to the accurate diagnosis of rare chromosomal balanced structural variations, and provides an accurate laboratory data for the assessment risk of recurrence and the selection of fertility mode in offspring.