胎儿1p32p31微缺失综合征的产前诊断1例

Q4 Medicine

中华围产医学杂志 Pub Date : 2019-11-16 DOI:10.3760/CMA.J.ISSN.1007-9408.2019.11.008

Qu Xiaoxing, Y. Meizhen, Zhang Yun, Z. Jia, X. Ya, Zhou Fenhe, Sun Luming

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引用次数: 0

摘要

我们在此报告一例胎儿在妊娠22周和25周的超声扫描中出现头形异常、室间隔缺损、胆囊肿大、低耳和局部脐带胶质水肿。通过染色体微阵列分析，在染色体1p32.1p31.1上发现一个15.318 Mb的杂合微缺失，arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1。胎儿染色体核型为46、XY、del(1)(p32.1p31.1)。因此，根据正常父母的常规g带分析和染色体微阵列分析，本病例诊断为1p32p31微缺失综合征，证实为新生变异。这种综合征可能表现为头部形状、肾脏、膀胱和中枢神经系统的异常。考虑到胎儿可能出现的不良后果，这对夫妇在进行遗传咨询后决定终止妊娠。关键词:染色体缺失;染色体，人类，1对;产前诊断

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Prenatal diagnosis of fetal 1p32p31 microdeletion syndrome: a case report

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus. Key words: Chromosome deletion; Chromosomes, human, pair 1; Prenatal diagnosis

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来源期刊

中华围产医学杂志 Medicine-Obstetrics and Gynecology

CiteScore

0.70

自引率

0.00%

发文量

4446

期刊介绍： Chinese Journal of Perinatal Medicine was founded in May 1998. It is one of the journals of the Chinese Medical Association, which is supervised by the China Association for Science and Technology, sponsored by the Chinese Medical Association, and hosted by Peking University First Hospital. Perinatal medicine is a new discipline jointly studied by obstetrics and neonatology. The purpose of this journal is to "prenatal and postnatal care, improve the quality of the newborn population, and ensure the safety and health of mothers and infants". It reflects the new theories, new technologies, and new progress in perinatal medicine in related disciplines such as basic, clinical and preventive medicine, genetics, and sociology. It aims to provide a window and platform for academic exchanges, information transmission, and understanding of the development trends of domestic and foreign perinatal medicine for the majority of perinatal medicine workers in my country.