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浙江大学学报（医学版）
J Zhejiang Univ (Med Sci)  2019, Vol. 48 Issue (4): 429-433    DOI: 10.3785/j.issn.1008-9292.2019.08.13
    
Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases
MEI Jin1(),LIU Jiao2(),WANG Min1,ZHANG Wen1,WANG Hao1,LU Sha1,HE Chaying1,*(),JIN Chunlei2
1. Prenatal Diagnostic Center, Hangzhou Municipal Women's Hospital, Hangzhou Maternity and Child Health Care Hospital, Hangzhou 310008, China
2. Prenatal Diagnostic Center, Lishui Maternity and Child Health Care Hospital, Lishui 323000, Zhejiang Province, China
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Abstract  

Objective: To investigate the relationship between 22q11.2 duplication and clinical phenotype. Methods: Eight fetuses with 22q11.2 duplication syndrome diagnosed by chromosome microarray analysis (CMA) through amniocentesis from February 2015 to March 2017 were enrolled in the study. The prenatal diagnostic indications, fetal ultrasound, chromosome karyotype, peripheral blood CMA results of parents, pregnancy outcomes and follow-up of postnatal growth and development were retrospectively analyzed. Results: Prenatal serological screening indicated 6 cases with high risk of trisomy 21, 1 case with nuchal fold (NF) thickening and 1 case of maternal chromosomal balanced translocation. Fetal ultrasonography showed 1 case of NF thickening, 1 case of fetal cerebral ventriculomegaly and 6 cases with normal ultrasound. CMA demonstrated that the size of duplication was between 651 kb and 3.26 Mb, and 22q11.2 duplication. Parents' CMA results revealed that 6 cases inherited from one of the parents with normal phenotype, and the parents of 2 cases refused the CMA test. Two couples chose induced labor; 6 cases of continued pregnancy had normal phenotypes at birth. All 6 cases were followed up with longest of 3.5 years. The growth and psychological development were normal in 5 cases, and one case was growth retardation. Conclusion: There were no specific clinical phenotypes in 22q11.2 duplication syndrome, and most of them were inherited from one parent who has normal phenotype.

Key words： Chromosomes, human, pair 23/genetics      Chromosome duplication      Microarray analysis      Prenatal diagnosis      Pregnancy outcome     
Received: 04 April 2019      Published: 30 October 2019
CLC:  R715.5  
  R394.3  
  R446  
Corresponding Authors: HE Chaying     E-mail: meijin1960@126.com;66198172@qq.com;13506819778@163.com
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MEI Jin
LIU Jiao
WANG Min
ZHANG Wen
WANG Hao
LU Sha
HE Chaying
JIN Chunlei
Cite this article:

MEI Jin,LIU Jiao,WANG Min,ZHANG Wen,WANG Hao,LU Sha,HE Chaying,JIN Chunlei. Prenatal diagnosis and pregnancy outcomes of 22q11.2 duplication syndrome: analysis of 8 cases. J Zhejiang Univ (Med Sci), 2019, 48(4): 429-433.

URL:

http://www.zjujournals.com/med/10.3785/j.issn.1008-9292.2019.08.13     OR     http://www.zjujournals.com/med/Y2019/V48/I4/429


八例22q11.2区微重复胎儿产前诊断和妊娠结局分析

目的: 探讨22q11.2区微重复与临床表型之间的关系，为遗传咨询提供依据。方法: 对2015年2月至2017年3月在杭州市妇产科医院、丽水市妇幼保健院产前诊断中心接受羊水穿刺产前诊断，染色体微阵列分析（CMA）报告为22q11.2区微重复的8例胎儿的产前诊断指征、胎儿超声检查情况、染色体核型、父母CMA检测结果、妊娠结局、出生后的生长发育情况进行回顾性分析。结果: 8例胎儿产前血清学筛查结果21三体高风险6例、胎儿颈项皮肤皱褶（NF）增厚1例、母亲染色体平衡易位1例。胎儿超声检查结果胎儿NF增厚1例，胎儿侧脑室增宽1例，未发现异常6例。CMA检测结果提示，22q11.2区域微重复片段大小为651 kb~3.2 Mb。6例胎儿通过父母的CMA溯源，均来自正常表型的父母一方，2例父母拒绝溯源。引产2例，继续妊娠6例。继续妊娠胎儿出生时外观正常，随访至今最大年龄3.5岁，生长发育和心理发育正常5例，生长迟缓1例。结论: 本组22q11.2区微重复胎儿出生前后无特异的临床表现，均遗传自无任何异常症状的父母一方，提示对22q11.2微重复胎儿应当慎重处理。


关键词： 染色体, 人, 23对/遗传学,  染色体重复,  微阵列分析,  产前诊断,  妊娠结局 
序号 诊断指征 核型 染色体微阵列分析结果 超声检查 CMA溯源
1 21三体高风险 46，XN 22q11.21区段存在2.8 Mb片段重复 正常 拒绝检查
2 胚胎停育1次，母亲染色体核型：46, XX, t(14;15)(q32;q22) 46，XN 22q11.23区段存在651 kb片段重复 正常 母亲来源
3 21三体高风险 46，XN 22q11.21区段存在3.1 Mb片段重复 正常 拒绝检查
4 21三体高风险 46，XN 22q11.21区段存在2.817 Mb片段重复 正常 父亲来源
5 21三体高风险 46，XN 11q21区段存在1.3 Mb片段缺失，22q11.23区段存在1.3 Mb片段重复 侧脑室后角增宽1.0 cm, 羊水偏少(7.4 cm) 父亲来源
6 颈项皮肤皱褶增厚 46，XN 22q11.21区段存在2.8 Mb片段重复 颈项皮肤皱褶增厚0.66 cm 父亲来源
7 21三体高风险 46，XN 22q11.21区段存在3.2 Mb片段重复 正常 父亲来源
8 21三体高风险 46，XN 22q11.21区段存在3.2 Mb片段重复 正常 父亲来源
Tab 1 Prenatal diagnosis and parents' chromosome microarray analysis of 8 cases of 22q11.2 duplication syndrome
序号 分娩结局 随访时段(月) 体格发育 心理发育
身高(cm) 体质量(kg) 头围(cm) 评估 大运动 小运动 认知 评估
1 剖宫产，男孩，3.3 kg 8 67 8 44 生长迟缓 与年龄符合 正常 正常 正常
18 75 9.4 46 生长迟缓 与年龄符合 正常 正常 正常
30 88 12.1 47 生长迟缓 与年龄符合 正常 正常 正常
2 剖宫产，男孩，3.0 kg 8 74 9 44.5 中高 与年龄符合 正常 正常 正常
18 86 11 46 中低 与年龄符合 正常 正常 正常
30 94 14 46 中高 与年龄符合 正常 正常 正常
3 顺产，女孩，3.65 kg 8 73 9.9 45.9 中高 与年龄符合 正常 正常 正常
18 85 12.5 48 中高 与年龄符合 正常 正常 正常
30 96 14.6 49.5 中高 与年龄符合 正常 正常 正常
4 顺产，女孩，3.75 kg 8 77 10.4 45 中高 与年龄符合 正常 正常 正常
18 88 12 47 中高 与年龄符合 正常 正常 正常
30 97 15 50 中高 与年龄符合 正常 正常 正常
6 顺产，男孩, 5.8 kg 8 77 10 46 中高 与年龄符合 正常 正常 正常
18 92 13 50 中高 与年龄符合 正常 正常 正常
7 剖宫产，男孩，3.3 kg 8 78 10 48 中高 与年龄符合 正常 正常 正常
18 93 13 49 中高 与年龄符合 正常 正常 正常
Tab 2 Pregnancy outcome, growth and psychological development of 6 cases of 22q11.2 duplication syndrome
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