Abstract：
OBJECTIVE: To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.
METHODS: This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.
RESULTS: Two cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case.
CONCLUSIONS: The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly.
METHODS: This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.
RESULTS: Two cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case.
CONCLUSIONS: The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly.
摘要：
目的：确定与5q35缺失引起的Sotos综合征相关的胎儿超声检查结果，包括NSD1和该基因的点突变。
方法：这是一项通过染色体微阵列（CMA）/全外显子组测序（WES）鉴定的8例胎儿Sotos综合征妊娠的回顾性研究。收集并审查了这些病例的临床和实验室数据。
结果：2例胎儿无明显异常，出生后才被诊断出来.1例出现在妊娠早期，颈部半透明性增加。其余五个胎儿是在妊娠晚期确定的。妊娠中期出现轻度脑室增宽的五个胎儿之一，妊娠晚期四个月有轻度脑室增宽，大头畸形和羊水过多。对所有病例进行了CMA，发现7例病例有5q35缺失，和WES在一个病例中检测到母系遗传的NSD1变体。
结论：Sotos综合征的胎儿超声表现，与5q35的缺失和NSD1中的点突变相关的不是特异性的，最常见的发现是轻度脑室增宽。
方法：这是一项通过染色体微阵列（CMA）/全外显子组测序（WES）鉴定的8例胎儿Sotos综合征妊娠的回顾性研究。收集并审查了这些病例的临床和实验室数据。
结果：2例胎儿无明显异常，出生后才被诊断出来.1例出现在妊娠早期，颈部半透明性增加。其余五个胎儿是在妊娠晚期确定的。妊娠中期出现轻度脑室增宽的五个胎儿之一，妊娠晚期四个月有轻度脑室增宽，大头畸形和羊水过多。对所有病例进行了CMA，发现7例病例有5q35缺失，和WES在一个病例中检测到母系遗传的NSD1变体。
结论：Sotos综合征的胎儿超声表现，与5q35的缺失和NSD1中的点突变相关的不是特异性的，最常见的发现是轻度脑室增宽。
