Ultrasonic Features and Etiological Analysis of Non-immune Hydrops Fetalis： A Review of 232 Cases in a Single Center
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2022.0509
- VernacularTitle:单中心 232例非免疫性胎儿水肿超声特征及病因学分析
- Author:
Quan-rui LIU
1
;
Qi XU
1
;
Jing-ya ZHAO
1
;
Dan-lun LI
1
;
Jing-yu LIU
1
;
Yi ZHOU
1
Author Information
1. Center of Fetal Medicine， Department of Obstetrics， the First Affiliated Hospital of Sun Yat-sen University， Guangzhou 510080， China
- Publication Type:Journal Article
- Keywords:
non-immune hydrops fetalis;
ultrasonography;
chromosome karyotype;
chromosome microarray
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2022;43(5):757-763
- CountryChina
- Language:Chinese
-
Abstract:
ObjectivesTo investigate the ultrasound features and etiological distribution of non-immune hydrops fetalis. MethodsA total of 232 cases of diagnosed non-immune hydrops fetalis were recruited from December 2012 to January 2019 in The First Affiliated Hospital of Sun Yat-sen University. The ultrasound features and the results of prenatal diagnosis of hydrops fetalis were retrospectively analyzed. Results1. Non-immune hydrops fetalis was often associated with TTTS stage Ⅳ （50/232， 21.55%）； skin edema （159/232， 68.53%） was the mostly identified fluid collection； the most frequently combined malformations were anomalies of the cardiovascular system （15/232， 6.47%）. 2. Totally 185 cases accepted further prenatal genetic test and the abnormal detection rate was 40.54% （75/185）， while the abnormal detection rate of chromosome examination （including chromosome karyotype analysis and CMA） was 26.49% （49/185）. The abnormal detection rate of isolated NIHF was lower than that of non-isolated NIHF （32.64% vs 68.29%， p< 0.05）. Chromosome karyotype analysis was only performed in 57 cases， and abnormalities were detected in 14 cases （24.56%）. CMA only was performed in 31 cases and abnormalities were detected in 13 cases （41.94%）. Both Chromosome karyotype analysis and CMA were performed in 88 cases. Variation was detected in 22 cases （25%）， 3 cases （3.41%） showed abnormalities detected only by Chromosome karyotype analysis， while 6 cases （6.82%） had abnormalities detected only by CMA. The extra detection rate of CMA was 3.41% （3 cases） compared with Chromosome karyotype analysis. Variation was both detected by Chromosomal karyotype analysis and CMA in 13 cases （14.77%）. In this study， 30 cases of variation were detected by Chromosomal karyotype analysis （30/145， 20.69%）. The most common was 45， X （19/145， 13.10%）， followed by 47， XX， + 21 / 47， XY， + 21 （3/145， 2.07%）. CMA detected 32 cases of variation， including 12 cases of CNVs （10.08%）， 4 of which were pathogenic CNVs （3.36%）. Genetic analysis detected abnormalities in 26 of 27 cases. The most common abnormality in gene detection cases was αThalassemia --SEA/--SEA （21/26， 80.77%）， followed by PTPN11 gene mutation （2/26，7.69%）. 3. The causes of genetically normal NIHF included fetal-maternal blood transfusion， infection and unexplained anemia. ConclusionsThe most common etiology of non-immune hydrops fetalis is TTTS stage Ⅳ and the most frequently associated malformations are cardiovascular system abnormalities in our center. The most common abnormal karyotypes of non-immune hydrops fetalis are 45， X. CMA offers extra detection rate compared with Chromosome karyotype analysis in NIHF. The most common monogenic disease is αThalassemia--SEA/--SEA. The genetic abnormality detection rate of non-isolated NIHF is higher.
