目的 评估 16p13.11 微重复包含 NDE1 基因的临床意义及基因型⁃表型的相关性。方法 回顾分析 61 例因神经认知障碍等原因行染色体微阵列分析（chromosome microarray analysis，CMA）的患者和 6 144 例产前病例，并将其分为 3 组：（1）神经认知障碍患者组（2）神经系统异常产前组（3）神经系统无异 常产前组。对携带16p13.11微重复的胎儿进行随访，并将三组的检出率进行统计学分析。结果 神经认知障碍患者组和神经系统异常产前组均未检测到 16p13.11 微重复。在神经系统无异常产前组中检测到 13 例胎儿携带该重复，包含全部的 NDE1 基因。其中，一例孕妇因为胎儿心脏异常选择终止妊娠；其他孕妇均继续妊娠，在后期的产检中未发现异常。对出生的胎儿进行健康状况的随访也未发现异常表型。 16p13.11 微重复的检出率在三组间的差异也无统计学意义（P > 0.05）。结论 结合 16p13.11 微重复低外显率的特点，它可能是良性变异。但是，需要更大规模的研究来评估相关的临床表型。对于携带该重复的产前病例，建议随访至成年。

Objective To assess the clinical significance of 16p13.11 microduplications encompassing NDE1 gene and study the genotype ⁃phenotype correlation. Methods Sixty ⁃one patients and 6，144 controls who had undergone chromosome microarray analysis（CMA）for neurocognitive impairment or other reasons were ana⁃ lyzed and then divided into three groups：a group of patients with neurocognitive impairment，a prenatal group with abnormal nervous systems，and a prenatal group with normal nervous systems. The fetuses carrying 16p13.11 micro⁃ duplications were followed up，and the detection rates for the three groups were statistically analyzed. Results 16p13.11 microduplications were not detectable in the group of patients with neurocognitive impairment and the prenatal group with abnormal nervous systems. However，16p13.11 microduplications encompassing NDE1 gene were detectable in 13 fetuses in the prenatal group with normal nervous systems. Of these，one pregnancy was termi⁃ nated because of fetal heart defect，the others chose to continue their pregnancy，and no other structural abnormali⁃ ties were observed in the fetuses. A follow⁃up on postnatal health of the newborns revealed no apparent abnormali⁃ ties. There was no significant difference in the detection rate of 16p13.11 microduplication among the three groups （P > 0.05）. Conclusions Combined with the characteristics of low penetrance，16p13.11 microduplications encompassing the entire NDE1 gene may be benign variants；however，more large⁃scale studies are needed to eval⁃ uate the associated clinical phenotypes. Follow ⁃up to adulthood is recommended for prenatal cases with 16p13.11 microduplication.