Abstract：
OBJECTIVE: 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics associated with 16p13.11 microdeletion/microduplication, in order to improve the understanding, diagnosis and monitoring of this disease in the fetus.
METHODS: A total of 9000 pregnant women who underwent invasive prenatal diagnosis for karyotyping and SNP-array were retrospectively analyzed in tertiary referral institutions from October 2016 to January 2022.
RESULTS: SNP-array revealed that 20 fetuses had copy number variation (CNV) in the 16p13.11 region, out of which 5 had 16p13.11 microdeletion and the rest showed microduplication, along with different ultrasound phenotypes. Furthermore, 4/20 cases demonstrated structural abnormalities, while the remaining 16 cases were atypical in ultrasound. Taken together, 16p13.1 microdeletion was closely related to thickened nuchal translucency, while 16p13.11 microduplication was more closely associated with echogenic bowel. Only 5/15 fetuses were verified by pedigree, with one case of 16p13.11 microdeletion being de novo, and the other cases of 16p13.11 microduplication were inherited from one parent. In 4/20 cases, the pregnancy was terminated. Except for one case with short stature and another one who underwent lung cystadenoma surgery, no abnormalities were reported in the other cases during follow-up.
CONCLUSIONS: Fetuses with 16p13.11 microdeletion/microduplication had no characteristic phenotype of intrauterine ultrasound and was in good health after birth, thus providing a reference for the perinatal management of such cases.
METHODS: A total of 9000 pregnant women who underwent invasive prenatal diagnosis for karyotyping and SNP-array were retrospectively analyzed in tertiary referral institutions from October 2016 to January 2022.
RESULTS: SNP-array revealed that 20 fetuses had copy number variation (CNV) in the 16p13.11 region, out of which 5 had 16p13.11 microdeletion and the rest showed microduplication, along with different ultrasound phenotypes. Furthermore, 4/20 cases demonstrated structural abnormalities, while the remaining 16 cases were atypical in ultrasound. Taken together, 16p13.1 microdeletion was closely related to thickened nuchal translucency, while 16p13.11 microduplication was more closely associated with echogenic bowel. Only 5/15 fetuses were verified by pedigree, with one case of 16p13.11 microdeletion being de novo, and the other cases of 16p13.11 microduplication were inherited from one parent. In 4/20 cases, the pregnancy was terminated. Except for one case with short stature and another one who underwent lung cystadenoma surgery, no abnormalities were reported in the other cases during follow-up.
CONCLUSIONS: Fetuses with 16p13.11 microdeletion/microduplication had no characteristic phenotype of intrauterine ultrasound and was in good health after birth, thus providing a reference for the perinatal management of such cases.
摘要：
目的：16p13.11微缺失/微重复是一种罕见的遗传病，外显率不完全，其中大部分是在成人和儿童中报道的，在胎儿中很少描述超声表型。这里,我们分析了与16p13.11微缺失/微重复相关的产前超声表型特征，为了增进了解，诊断和监测胎儿的这种疾病。
方法：对2016年10月至2022年1月在三级转诊机构接受侵入性产前诊断核型分析和SNP阵列检查的9000例孕妇进行回顾性分析。
结果：SNP阵列显示20个胎儿在16p13.11区域有拷贝数变异（CNV），其中5个有16p13.11微缺失，其余显示微重复，以及不同的超声表型。此外，4/20例显示结构异常，其余16例超声检查不典型。一起来看,16p13.1微缺失与颈部半透明增厚密切相关，而16p13.11微重复与肠回声更密切相关。只有5/15的胎儿被血统证实，一例16p13.11微缺失从头出现，其他16p13.11微重复病例均遗传自父母一方。在4/20案例中，妊娠终止。除一例身材矮小，另一例接受肺囊腺瘤手术外，其他病例在随访期间未报告异常.
结论：16p13.11微缺失/微重复胎儿无宫内超声特征性表型，出生后健康状况良好，从而为此类病例的围产期管理提供参考。
方法：对2016年10月至2022年1月在三级转诊机构接受侵入性产前诊断核型分析和SNP阵列检查的9000例孕妇进行回顾性分析。
结果：SNP阵列显示20个胎儿在16p13.11区域有拷贝数变异（CNV），其中5个有16p13.11微缺失，其余显示微重复，以及不同的超声表型。此外，4/20例显示结构异常，其余16例超声检查不典型。一起来看,16p13.1微缺失与颈部半透明增厚密切相关，而16p13.11微重复与肠回声更密切相关。只有5/15的胎儿被血统证实，一例16p13.11微缺失从头出现，其他16p13.11微重复病例均遗传自父母一方。在4/20案例中，妊娠终止。除一例身材矮小，另一例接受肺囊腺瘤手术外，其他病例在随访期间未报告异常.
结论：16p13.11微缺失/微重复胎儿无宫内超声特征性表型，出生后健康状况良好，从而为此类病例的围产期管理提供参考。
