Molecular cytogenetic analysis and clinical outcomes of fetuses with congenital diaphragmatic hernia
10.3760/cma.j.cn113903-20231103-00301
- VernacularTitle:先天性膈疝胎儿的分子细胞遗传学分析与临床结局
- Author:
Yanlin LI
1
;
Min PAN
;
Suting XU
;
Ru LI
;
Jin HAN
;
Huizhu ZHONG
;
Xiangyi JING
;
Wei ZHONG
;
Dongzhi LI
Author Information
1. 广州医科大学附属妇女儿童医疗中心产前诊断中心，广州 510623
- Publication Type:Journal Article
- Keywords:
Congenital diaphragmatic hernia;
Prenatal diagnosis;
Microarray analysis;
Chromosome karyotype analysis;
Clinical outcome
- From:
Chinese Journal of Perinatal Medicine
2024;27(12):993-1000
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the correlation between clinical outcomes of congenital diaphragmatic hernia (CDH) and chromosomal abnormalities.Methods:This was a retrospective study involving 101 fetuses who underwent invasive prenatal diagnosis and chromosomal analysis for CDH at the Prenatal Diagnosis Center of Guangzhou Medical University Affiliated Women and Children's Medical Center from January 1, 2010, to December 31, 2021. According to ultrasound results, they were divided into the isolated CDH group and the complex CDH group. The results of chromosomal karyotype analysis or chromosomal microarray analysis (CMA) and birth outcomes were analyzed. For live-born children, follow-up results were analyzed. Statistical analysis was performed using t-test or Chi-square (or Fisher's exact) test. Results:(1) The mean age of the mothers of the 101 fetuses was (29.6±5.3) years, ranging from 20 to 47 years, and 16 mothers (15.8%) were over 35 years old. The mean gestational age at invasive prenatal diagnosis was (27.1±5.0) weeks, ranging from 13 weeks and 3 days to 38 weeks and 3 days; the mean gestational age at first diagnosis of CDH was (26.6±4.8) weeks, ranging from 13 weeks and 3 days to 38 weeks and 3 days. (2) The 101 fetuses were divided into isolated CDH group (81 cases, 80.2%) and complex CDH group (20 cases, 19.8%) based on whether they had other ultrasound abnormalities. Among the 20 complex cases, 13 had more than two types of malformations, with cardiovascular system malformations being the most common (11 cases, including seven chromosomal abnormalities). The highest proportion of chromosomal abnormalities was found in fetuses with central nervous system malformations (3/4). (3) Among the 101 CDH fetuses, 31 (30.7%) underwent chromosomal karyotype analysis alone, 39 (38.6%) underwent CMA alone, and 31 (30.7%) underwent both tests. The rate of chromosomal abnormalities was 13.9% (14/101). The detection rates of abnormalities by chromosomal karyotype analysis and CMA were 16.1% (10/62) and 14.3% (10/70), respectively. The additional detection rate by CMA was 2.8% (2/70). (4) The gestational age at diagnosis in the complex CDH group was earlier than that in the isolated CDH group [(22.7±4.2) weeks vs. (27.7±4.6) weeks, t=4.47, P<0.001]. The total detection rate, as well as the detection rates by chromosomal karyotype analysis and CMA, were higher in the complex CDH group than those in the isolated CDH group [45.0% (9/20) vs. 6.2% (5/81), χ2=17.13; 7/15 vs. 6.4% (3/47), χ2=10.82; 5/11 vs. 8.8% (5/57), χ2=7.55; all P<0.01]. (5) Among the 101 CDH fetuses, two were lost to follow-up, and 99 (98.0%) were successfully followed up. Among these 99 cases, 48 were terminated, and 51 were live births. The chromosomal abnormality rate in the 48 terminated fetuses was 25.0% (12/48), including 28 isolated cases and 20 complex cases. All 51 live births were isolated cases, with 45 (88.2%) cured by postnatal surgery and six (11.8%) having adverse clinical outcomes (including two preoperative deaths, three postoperative deaths, and one postoperative recurrence). Conclusions:The rate of chromosomal abnormalities in CDH is high, and it is higher in complex CDH than in isolated CDH. When prenatal diagnosis reveals fetal CDH, invasive prenatal diagnosis is recommended to exclude chromosomal karyotype abnormalities, with CMA recommended as the preferred chromosomal testing method.
