Clinical significance of prenatal non-invasive combined detection of fetal multiple blood group antigen genotypes in early prenatal diagnosis of hemolytic disease of the fetus and newborn
10.13303/j.cjbt.issn.1004-549x.2025.11.009
- VernacularTitle:产前无创胎儿多重血型抗原基因型联合检测在胎儿新生儿溶血病产前早期诊断中的临床意义
- Author:
Shuyao HU
1
;
Yaqi ZHAO
1
;
Luohua DENG
2
;
Yinping YUE
1
;
Yan LI
3
;
Wei HAN
1
Author Information
1. Department of Blood Transfusion, The Second Affiliated Hospital of Xuzhou Medical University / Xuzhou Mining Group General Hospital, Xuzhou 221006, China
2. Department of Blood Transfusion, Xuzhou Children's Hospital, Xuzhou 221006, China
3. Xuzhou Red Cross Blood Center, Xuzhou 221006, China
- Publication Type:Journal Article
- Keywords:
hemolytic disease of the fetus and newborn;
noninvasive prenatal diagnosis;
fluorescence quantitative PCR;
RhCE blood group;
cell-free fetal DNA
- From:
Chinese Journal of Blood Transfusion
2025;38(11):1535-1541
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To establish a prenatal non-invasive method for combined detection of fetal ABO, RhD, and RhCE blood group genotypes based on fluorescence quantitative PCR (FQ-PCR) technology, and to evaluate its clinical value in the early prenatal diagnosis of hemolytic disease of the fetus and newborn (HDFN). Methods: A total of 200 high-risk singleton pregnant women who underwent prenatal examinations in our hospital from January 2022 to December 2024 were prospectively enrolled. They were divided into four groups: the ABO incompatibility group (n=100), the RhD incompatibility group (n=50), the RhCE incompatibility group (n=50), and the control group (n=200). FQ-PCR technology was used to detect cell-free fetal DNA (cff-DNA) in maternal plasma, targeting the ABO system (261delG, 796C>A), exons 5/7 of the RHD gene, and the key loci of RhCE system (C/c, E/e). After delivery, the blood group of newborn was verified by serological testing of umbilical cord blood., and the hemolysis panel tests (direct antiglobulin test, free antibody test, and antibody release test) were performed to evaluate the detection consistency and identify high-risk factors. Results: The detection coincidence rates for ABO, RhD, and RhCE blood groups were 98.0% (98/100), 100.0% (50/50), and 96.0% (48/50), respectively. The incidence of HDFN in the ABO incompatibility group was 69.0% (69/100), which is significantly higher than that in the RhD incompatibility group (10.0%, 5/50) and the RhCE incompatibility group (2.0%, 1/50). Multivariate analysis identified maternal blood type O (OR=3.021), maternal RhD-negative (OR=5.253), and maternal age ≥35 years (OR=1.950) as independent risk factors for HDFN (all P<0.05). Conclusion: Prenatal non-invasive combined detection of multiple blood group antigen genotypes can significantly improve the efficiency of early diagnosis of HDFN and provide accurate early warning for high-risk pregnant women.
