Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Apr 20;16(1):83.
doi: 10.1186/s12920-023-01505-y.

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

Danhua Guo  1 , Shuqiong He  1 , Na Lin  1 , Yifang Dai  1 , Ying Li  1 , Liangpu Xu  2 , Xiaoqing Wu  3
Affiliations

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

Danhua Guo et al. BMC Med Genomics. .

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.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Similar articles

See all similar articles

Cited by

References

    1. Norton ME, Chauhan SP, Dashe JS. Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol. 2015;212(2):127–39. doi: 10.1016/j.ajog.2014.12.018. - DOI - PubMed
    1. Iskaros J, Jauniaux E, Rodeck C. Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy. Obstet Gynecol. 1997;90(3):321–5. doi: 10.1016/S0029-7844(97)00290-1. - DOI - PubMed
    1. Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, et al. Exome sequencing for prenatal diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med. 2020;383(18):1746–56. doi: 10.1056/NEJMoa2023643. - DOI - PMC - PubMed
    1. Lee AJ, Bethune M, Hiscock RJ. Placental thickness in the second trimester: a pilot study to determine the normal range. J ultrasound medicine: official J Am Inst Ultrasound Med. 2012;31(2):213–8. doi: 10.7863/jum.2012.31.2.213. - DOI - PubMed
    1. Bellini C, Donarini G, Paladini D, Calevo MG, Bellini T, Ramenghi LA, Hennekam RC. Etiology of non-immune hydrops fetalis: an update. Am J Med Genet Part A. 2015;167a(5):1082–8. doi: 10.1002/ajmg.a.36988. - DOI - PubMed

Publication types

LinkOut - more resources