The Journal of Practical Medicine ›› 2023, Vol. 39 ›› Issue (14): 1825-1829.doi: 10.3969/j.issn.1006⁃5725.2023.14.017

• Medical Examination and Clinical Diagnosis • Previous Articles     Next Articles

The variation nature of 16p13.11 microduplicates encompassing NDE1 gene in prenatal diagnosis 

ZHANG Miaomiao,FANG Yuqin,TANG Junxing,WANG Chaohong,SUN Yuxiu,ZHU Jiansheng.   

  1. Affiliated Maternity and Child Health Hospital of Anhui Medical University,Hefei 230000,China
  • Online:2023-07-25 Published:2023-07-25
  • Contact: ZHU Jiansheng E⁃mail:593130772@qq.com

Abstract:

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. 

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