[Prenatal diagnosis and genetic counseling in 19 cases with 22q11.2 microduplications].
作者信息
Cui Yu, Xiao Jianping, Zhao Li, Yang Lan, Tang Ye, Tao Hehua, Zhang Heng
机构信息
Prenatal Diagnosis Center, Wuxi Maternal and Child Health Care Hospital Affiliated to Nanjing Medical University, Jiangsu 214002, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1180-1184. doi: 10.3760/cma.j.cn511374-20200921-00679.
OBJECTIVE
Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed.
METHODS
The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to delineate genotype-phenotype correlation.
RESULTS
Two fetuses were identified by karyotyping analysis of amniotic fluid samples. SNP array revealed that all have carried a 468.8 kb~3.4 Mb duplication in 22q11.2 region. Two couples have refused parental verification. Seven cases were inherited from the mother, 6 were from the father, and 4 cases were de novo in origin. Three couples opted termination of the pregnancy. One fetus perished at birth. Five newborns showed delayed growth, the remaining 10 were normal.
CONCLUSION
The prenatal phenotype of fetuses carrying 22q11.2 microduplications are nonspecific, and the phenotypes of survivors may become more diverse along with increased age. Professional evaluation and long-term follow-up should be recommended.
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