Genetic characteristics of common multiple congenital anomalies in newborns

doi:10.19538/j.ek2022040605

Chinese Journal of Practical Pediatrics ›› 2022, Vol. 37 ›› Issue (4): 261-264.DOI: 10.19538/j.ek2022040605

Previous Articles Next Articles

Genetic characteristics of common multiple congenital anomalies in newborns

Department of Neonatology，Children’s Hospital of Fudan University，National Children’s Medical Center，Shanghai 201102

Online:2022-04-06 Published:2022-05-19

新生儿常见多发畸形的遗传特征

国家儿童医学中心（上海）复旦大学附属儿科医院新生儿科，上海 201102

通讯作者: 周文浩，电子信箱：zhouwenhao@fudan.edu.cn

Abstract

Abstract: Neonatal multiple congenital anomalies（MCAs）are defined as neonates have two or more structural malformations at birth.The common malformation feature are dysmorphic facial features，congenital heart defect，another organs malformation，et al.The common genetic factors of MCAs included chromosome anomalies，single nucleotide variant，and copy number variant.This study illustrating these genetic phenotype characteristics of common MCAs syndrome from three kinds of genetic factors，we hope to provide help for the early clinical identification，diagnosis and treatment of MCAs.

Key words: newborn, multiple congenital anomalies, genetic characteristics

摘要： 新生儿多发畸形（MCAs）是指新生儿出生时即有2个或以上的形态结构畸形。常见MCAs表现为面容异常、先天性心脏病及其他器官畸形等。染色体异常、单个基因突变、拷贝数变异是常见的导致MCAs遗传性病因。文章将从这3方面来阐述常见MCAs综合征的遗传表型特征，以期为MCAs的早期临床识别与诊治提供帮助。

关键词: 新生儿, 多发畸形, 遗传特征

XIAO Fei-fan, ZHOU Wen-hao. Genetic characteristics of common multiple congenital anomalies in newborns[J]. Chinese Journal of Practical Pediatrics, 2022, 37(4): 261-264.

肖非凡, 周文浩. 新生儿常见多发畸形的遗传特征[J]. 中国实用儿科杂志, 2022, 37(4): 261-264.

[1]	PAN Si-lin，WANG Si-bao. Improving the popularization of interventional treatment for neonatal pulmonary atresia with intact ventricular septum in China [J]. CJPP, 2021, 36(5): 352-355.
[2]	HUANG Xin-wen, ZHANG Yu. Newborn screening for urea cycle disorders [J]. Chinese Journal of Practical Pediatrics, 2021, 36(10): 731-735.
[3]	LIANG Ping, WANG Hua, LIU Han-min. Neonatal harlequin color change treated with hypothermia：A reort of 1 case [J]. CJPP, 2020, 35(5): 414-416.
[4]	Quality Assessment Committee of Newborn Screening for Hereditary Metabolic Diseases，the Clinical Testing Center，National Health Commission. Consensus on the screening for hereditary metabolic diseases in preterm，low-birth-weight and sick children [J]. CJPP, 2020, 35(3): 180-184.
[5]	WU Sheng-nan，CHEN Qiong，CHEN Yong-xing，et al. Analysis of clinical data of 158 patients with methylmalonic acidemia in Children’s Hospital Affiliated to Zhengzhou University [J]. CJPP, 2020, 35(3): 228-232.
[6]	CHEN Yi-xian，FU Jian-hua. Application progress in drug treatment for persistent pulmonary hypertension in the newborn [J]. CJPP, 2020, 35(2): 163-168.
[7]	YANG Feng-xia， TAN Li-mei， YE Jia-wei， et al. Clinical and genetic characteristics of three patients with Dubin-Johnson syndrome：A report of 3 cases [J]. CJPP, 2020, 35(1): 35-38.
[8]	FU Jia-bo，XUE Xin-dong. Progress in the diagnosis and treatment of cerebral infarction in neonates [J]. CJPP, 2019, 34(2): 144-148.
[9]	Inter-laborarory Quality Evaluation Committee of Screening for Hereditary and Metabolic Diseases in the Newborn，Clinical Testing Center， National ealth Commission. Expert consensus on the method of establishing the cutoff value of screening indexes for hereditary and metabolic diseases in the newborn [J]. CJPP, 2019, 34(11): 881-884.
[10]	YANG Ru-lai，TONG Fan，ZHENG Jing. Screening，diagnosis and treatment of primary carnitine deficiency [J]. CJPP, 2019, 34(1): 14-18.
[11]	Nuerya Rejiafu*，ZHANG Hui，SU Ya-jie，et al. Analysis of UGT1A1 gene mutation in Uygur neonates with unconjugated hyperbilirubinemia [J]. CJPP, 2018, 33(5): 349-352.
[12]	Nasiman Nijiati，LIU Xian-feng，YAN Chao-ying. Maple syrup urine disease in the neonates of different gestational age：A report of 3 cases [J]. CJPP, 2018, 33(5): 399-400.
[13]	HAN Mei-lin，GONG Zhen-hua. Research progress in the clinical significance and detection methods of bilirubin [J]. CJPP, 2018, 33(4): 315-318.
[14]	WEN Min， WANG Xiao-chuan. Newborn screening for primary immunodeficiency disease [J]. CJPP, 2017, 32(7): 484-487.
[15]	ZHANG Shu-lian，QIAN Tian，ZHANG Lan，et al. Neonatal congenital hemihypertrophy：A report of 2 cases [J]. CJPP, 2017, 32(7): 559-560.

Genetic characteristics of common multiple congenital anomalies in newborns

新生儿常见多发畸形的遗传特征

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics