Abstract：
OBJECTIVE: To investigate the incidence of pathogenic recurrent CNVs in fetuses with different referral indications and review the intrauterine phenotypic features of each CNV.
METHODS: A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogenic recurrent CNVs were further studied.
RESULTS: The highest incidence of pathogenic recurrent CNVs was 2.25 % in fetal ultrasound anomalies (FUA) group. Moreover, regardless of other indications, pregnant women with advanced maternal age have a lower incidence compared with whom less than 35 years old (p<0.05). In total 1.17 % (83/7,078) samples carried pathogenic recurrent CNVs: 20 cases with 22q11.2 recurrent region (12 microdeletion and eight microduplication), 11 with 1q21.1 (five microdeletion and six microduplication) and 16p13.11 (four microdeletion and seven microduplication), 10 with 15q11.2 recurrent microdeletion, seven with Xp22.31 recurrent microdeletion and 16p11.2 (three microdeletion and four microduplication), four with 7q11.23 (two microdeletion and two microduplication), three with 17p11.2 (three microdeletion), 17p12 (two microdeletion and one microduplication) and 17q12 (two microdeletion and one microduplication). The rest ones were rare in this study.
CONCLUSIONS: Pathogenic recurrent CNVs are more likely to be identified in FUA group. Pregnant women with advanced maternal age have a lower incidence of pathogenic recurrent CNVs. The profile of pathogenic recurrent CNVs between prenatal and postnatal is different, especially in 22q11.2, 1q21.1, 15q13.3 recurrent region and 15q11.2 deletion.
METHODS: A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogenic recurrent CNVs were further studied.
RESULTS: The highest incidence of pathogenic recurrent CNVs was 2.25 % in fetal ultrasound anomalies (FUA) group. Moreover, regardless of other indications, pregnant women with advanced maternal age have a lower incidence compared with whom less than 35 years old (p<0.05). In total 1.17 % (83/7,078) samples carried pathogenic recurrent CNVs: 20 cases with 22q11.2 recurrent region (12 microdeletion and eight microduplication), 11 with 1q21.1 (five microdeletion and six microduplication) and 16p13.11 (four microdeletion and seven microduplication), 10 with 15q11.2 recurrent microdeletion, seven with Xp22.31 recurrent microdeletion and 16p11.2 (three microdeletion and four microduplication), four with 7q11.23 (two microdeletion and two microduplication), three with 17p11.2 (three microdeletion), 17p12 (two microdeletion and one microduplication) and 17q12 (two microdeletion and one microduplication). The rest ones were rare in this study.
CONCLUSIONS: Pathogenic recurrent CNVs are more likely to be identified in FUA group. Pregnant women with advanced maternal age have a lower incidence of pathogenic recurrent CNVs. The profile of pathogenic recurrent CNVs between prenatal and postnatal is different, especially in 22q11.2, 1q21.1, 15q13.3 recurrent region and 15q11.2 deletion.
摘要：
目的：探讨不同转诊指征胎儿中致病性再发CNV的发生率，并对每种CNV的宫内表型特征进行评价。
方法：共收集7,078份羊水样本进行染色体微阵列分析（CMA），并进一步研究携带致病性复发性CNV的病例。
结果：在胎儿超声异常（FUA）组中，致病性复发性CNVs的发生率最高，为2.25％。此外，不管其他适应症，高龄孕妇的发病率低于35岁(p<0.05)。共有1.17％（83/7,078）的样本携带致病性复发性CNVs：20例具有22q11.2复发区域（12例微缺失和8例微重复），11具有1q21.1（五个微删除和六个微复制）和16p13.11（四个微删除和七个微复制），10与15q11.2反复微缺失，七个具有Xp22.31反复微缺失和16p11.2（三个微缺失和四个微重复），四个带有7q11.23（两个微删除和两个微复制），三个带17p11.2（三个微删除），17p12(两个微缺失和一个微复制)和17q12(两个微缺失和一个微复制)。其余的在这项研究中很少见。
结论：在FUA组中更有可能发现致病性复发性CNVs。高龄孕妇的致病性复发性CNV发生率较低。产前和产后的致病性复发性CNV的分布是不同的，尤其在22q11.2、1q21.1、15q13.3轮回区和15q11.2缺失区。
方法：共收集7,078份羊水样本进行染色体微阵列分析（CMA），并进一步研究携带致病性复发性CNV的病例。
结果：在胎儿超声异常（FUA）组中，致病性复发性CNVs的发生率最高，为2.25％。此外，不管其他适应症，高龄孕妇的发病率低于35岁(p<0.05)。共有1.17％（83/7,078）的样本携带致病性复发性CNVs：20例具有22q11.2复发区域（12例微缺失和8例微重复），11具有1q21.1（五个微删除和六个微复制）和16p13.11（四个微删除和七个微复制），10与15q11.2反复微缺失，七个具有Xp22.31反复微缺失和16p11.2（三个微缺失和四个微重复），四个带有7q11.23（两个微删除和两个微复制），三个带17p11.2（三个微删除），17p12(两个微缺失和一个微复制)和17q12(两个微缺失和一个微复制)。其余的在这项研究中很少见。
结论：在FUA组中更有可能发现致病性复发性CNVs。高龄孕妇的致病性复发性CNV发生率较低。产前和产后的致病性复发性CNV的分布是不同的，尤其在22q11.2、1q21.1、15q13.3轮回区和15q11.2缺失区。
