Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center

Danhua Guo; Shuqiong He; Na Lin; Yifang Dai; Ying Li; Liangpu Xu; Xiaoqing Wu

doi:10.1186/s12920-023-01505-y

Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center

BMC Med Genomics. 2023 Apr 20;16(1):83. doi: 10.1186/s12920-023-01505-y.

Authors

Danhua Guo¹, Shuqiong He¹, Na Lin¹, Yifang Dai¹, Ying Li¹, Liangpu Xu², Xiaoqing Wu³

Affiliations

¹ Department of Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou City, Fujian Province, People's Republic of China.
² Department of Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou City, Fujian Province, People's Republic of China. xiliangpu@fjmu.edu.cn.
³ Department of Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou City, Fujian Province, People's Republic of China. wuxiaoqing013@126.com.

Abstract

Objectives: Non-immune hydrops fetalis (NIHF) is a non-specific symptom associated with a wide range of disorders. The prognosis of NIHF depends on the underlying etiology. In this study, we investigated the incidence of chromosomal abnormalities and Bart's hydrops fetalis in pregnancies associated with NIHF in South China.

Methods: We conducted a retrospective review of NIHF pregnancies referred to the Fujian Provincial Maternity and Children's Hospital between 2014 and 2018, excluding pregnancies with maternal alloimmunization. Routine karyotyping was performed on all 129 enrolled patients, and chromosomal microarray analysis was performed for 35 cases with a normal karyotype. In addition, α-thalassemia genotyping was performed to confirm the presence of Bart's hydrops fetalis.

Results: Chromosomal abnormalities were detected in 29.5% (38/129) of the cohort, including 37 cases with aneuploidy and one case with unbalanced structural rearrangement. Chromosomal microarray analysis performed on the 35 cases with a normal karyotype did not reveal any additional pathogenic variants. The proportions of chromosomal abnormalities declined with trimester progression, with frequencies of 65%, 30.1%, and 8.3% in the first, second, and third trimesters, respectively (p < 0.05). Bart's hydrops fetalis was detected in 34.9% (45/129) of the cohort. Among the 46 (35.6%) cases with unknown etiology, 23 cases had other ultrasonic abnormalities characterized by poor outcomes, whereas seven cases with multiple cavity effusions that resolved or remitted prior to birth showed normal development during the 3-4 years of follow-up.

Conclusions: In South China, Bart's hydrops fetalis and chromosomal abnormalities are the most common genetic etiologies of NIHF. Generalized skin edema and accompanying ultrasonic abnormalities are predictive of adverse outcomes, highlighting the need for intensive monitoring and better pregnancy management of NIHF patients.

Keywords: Chromosomal abnormality; Hydrops fetalis; Nonimmune; Pregnancy outcome; α- thalassemia.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Child
Chromosome Aberrations
Female
Humans
Hydrops Fetalis* / diagnosis
Hydrops Fetalis* / genetics
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis
Tertiary Care Centers
alpha-Thalassemia* / genetics