三级转诊中心的非免疫性胎儿水肿的遗传疾病和妊娠结局。

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

机构信息

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.

出版信息

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

DOI:10.1186/s12920-023-01505-y

PMID:37081464

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10116719/

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.

摘要

目的

非免疫性胎儿水肿（NIHF）是一种与广泛的疾病相关的非特异性症状。NIHF 的预后取决于潜在病因。本研究旨在调查华南地区 NIHF 相关妊娠中染色体异常和 Bart's 胎儿水肿的发生率。

方法

我们对 2014 年至 2018 年期间福建妇幼保健院转诊的 NIHF 妊娠进行了回顾性研究，排除了伴有母体同种免疫的妊娠。对所有 129 例入组患者进行常规核型分析，对核型正常的 35 例患者进行染色体微阵列分析。此外，还进行了α-地中海贫血基因分型以确认是否存在 Bart's 胎儿水肿。

结果

在该队列中，29.5%（38/129）的患者检测到染色体异常，包括 37 例非整倍体和 1 例不平衡结构重排。对核型正常的 35 例患者进行染色体微阵列分析未发现任何其他致病性变异。染色体异常的比例随妊娠周数的进展而降低，在第一、二和第三孕期的发生率分别为 65%、30.1%和 8.3%（p<0.05）。该队列中 34.9%（45/129）的患者存在 Bart's 胎儿水肿。在 46 例（35.6%）病因不明的患者中，23 例伴有其他超声异常，预后不良，而 7 例多腔积液在出生前缓解或消退，在 3-4 年的随访中发育正常。