22q11.2微缺失综合征胎儿的超声特征

doi:10.3969/j.issn.1006-7795.2021.02.003

首都医科大学学报 ›› 2021, Vol. 42 ›› Issue (2): 183-187.doi: 10.3969/j.issn.1006-7795.2021.02.003

22q11.2微缺失综合征胎儿的超声特征

侯磊, 李介岩, 邢宇, 刘丽恒, 王欣^*

首都医科大学附属北京妇产医院产科,北京 100026

收稿日期:2021-02-22 发布日期:2021-04-26
基金资助:
卫生部行业重大专项(201002013);

Ultrasonographic features of fetus with 22q11.2 deletion syndrome

Hou Lei, Li Jieyan, Xing Yu, Liu Liheng, Wang Xin^*

Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China

Received:2021-02-22 Published:2021-04-26
Contact: ^*E-mail:wx1501@ccmu.edu.cn
Supported by:
This study was supported by Major Special Project of Health Ministry(201002013).

摘要/Abstract

摘要： 目的通过对22q11.2微缺失综合征胎儿的染色体及胎儿超声特点分析,明确患病胎儿临床表型与基因型间的相关关系。方法回顾性分析2013年1月1日至2020年10月31日首都医科大学附属北京妇产医院19例产前诊断22q11.2微缺失综合征孕妇的一般情况、产前诊断指征、染色体及超声表现。结果 19例22q11.2微缺失综合征胎儿中,4例是因孕妇血清学筛查异常或外周血胎儿游离DNA筛查异常后产前诊断确诊的,15例是因胎儿超声异常行产前诊断确诊的,其中最常见的胎儿超声表现为右位主动脉弓(8/16)、室间隔缺损(5/16)及法洛氏四联症(5/16)。结论胎儿超声异常,特别是心血管异常是产前22q11.2微缺失综合征的主要表现,有必要对超声异常胎儿进行以基因拷贝数变异检测为基础的产前诊断。

关键词: 22q11.2微缺失综合征, 产前诊断, 基因拷贝数变异, 染色体异常

Abstract: Objective To assess genotype-phenotype correlation of prenatally diagnosed fetal 22q11 deletion syndrome by fetal molecular genetic analysis and fetal ultrasound.Methods In this retrospective study, we analyzed 19 cases of fetus which were diagnosed prenatally as 22q11.2 deletion syndrome from January 1,2013 to October 31, 2020. Their clinical conditions, prenatal diagnosis indications, genotype and phenotypic features were assessed. Results Four cases were performed preatal diagnosis for abnormal plasma screen or non-invasive prenatal scan (NIPT), while 15 cases were for abnormal ultrasound. The most common fetal phenotype were fetal cardiac anomalies, such as right aortic arch(8/16),ventricular septal defects(5/16) and tetralogy of Fallot (5/16). Conclusion Abnormal ultrasound finding, especially cardiovascular anomalies was the main manifestation of the 22q11.2 syndrome. It is recommended to use copy numbers variation as the first line test for fetus with abnormal ultrasound.

Key words: 22q11.2 deletion syndrome, prenatal diagnosis, gene copy number variations, chromosomal abnormality

中图分类号:

R715.5

侯磊, 李介岩, 邢宇, 刘丽恒, 王欣. 22q11.2微缺失综合征胎儿的超声特征[J]. 首都医科大学学报, 2021, 42(2): 183-187.

Hou Lei, Li Jieyan, Xing Yu, Liu Liheng, Wang Xin. Ultrasonographic features of fetus with 22q11.2 deletion syndrome[J]. Journal of Capital Medical University, 2021, 42(2): 183-187.

参考文献

[1] Botto L D, May K, Fernhoff P M, et al.A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population[J]. Pediatrics, 2003,112(1 Pt 1):101-107.
[2] Grati F R, Molina Gomes D, Ferreira J C, et al.Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies[J]. Prenat Diagn, 2015, 35(8):801-809.
[3] Campbell I M, Sheppard S E, Crowley T B, et al.What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia[J]. Am J Med Genet A, 2018, 176(10): 2058-2069.
[4] Liang D, Lv W, Wang H, et al.Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing[J] . Prenat Diagn, 2013, 33(5): 409-415.
[5] Song Y, Liu C, Qi H, et al.Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population[J]. Prenat Diagn, 2013, 33(7):700-706.
[6] Li H, Durbin R.Fast and accurate short read alignment with Burrows Wheeler transform[J]. Bio Informatics, 2009, 26(5):589-595.
[7] Wang Y, Chen Y, Tian F, et al.Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing[J] . Clin Chem, 2014, 60(1): 251-259.
[8] Richards S, Aziz N, Bale S, et al.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424.
[9] Hartman R J, Rasmussen S A,Botto L D, et al.The contribution of chromosomal abnormalities to congenital heart defects:a population-based study[J]. Pediatric Cardiology, 2011, 32(8): 1147-1157.
[10] 张文超,赵梦川,冯志山,等. 先天性心脏病患儿染色体 22q11微缺失的临床研究[J]. 河北医药, 2018, 40(17):2643-2646.
[11] Wójtowicz A, Respondek-Liberska M, Słodki M, et al.The significance of a prenatal diagnosis of right aortic arch[J]. Prenat Diagn, 2017, 37(4): 365-374.
[12] Tramontana A, Hartmann B, Hafner E.DiGeorge syndrome chromosome region deletion and duplication: prenatal genotype-phenotype variability in fetal ultrasound and MRI[J]. Prenat Diagn, 2019, 39(13):1225-1234.
[13] Rosenfeld J A, Coe B P, Eichler E E, et al.Estimates of penetrance for recurrent pathogenic copy-number variations[J]. Genet Med, 2013, 15(6): 478-481.
[14] Wilson H L, Crolla J A, Walker D,et al.Interstitial 22q13 deletions:genes other than SHANK3 have major effects on cognitive and language development[J]. Eur J Hum Genet, 2008, 16(11): 1301-1310.
[15] Rump P, de Leeuw N, van Essen A J, et al. Central 22q11.2 deletions[J] .Am J Med Genet A, 2014, 164A(11):2707-2723.
[16] Racedo S E, McDonald-McGinn D M, Chung J H, et al. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation[J]. Am J Hum Genet, 2015, 96(2): 235-244.
[17] Lopez-Rivera E, Liu Y P, Verbitsky M, et al.Genetic drivers of kidney defects in the diGeorge syndrome[J]. N Engl J Med, 2017, 376(8): 742-754.
[18] Dugoff L, Mennuti M T, McDonald-McGinn D M, et al. The benefits and limitations of cell-free DNA screening for 22q11.2 deletionsyndrome[J]. Prenat Diagn, 2017, 37(1): 53-60.
[19] 江梅花,陈先侠.染色体微阵列分析技术在产前诊断中的研究进展[J].临床误诊误治,2020,33(3):112-116.

22q11.2微缺失综合征胎儿的超声特征

Ultrasonographic features of fetus with 22q11.2 deletion syndrome

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