先天性肾上腺增生个体化宫内治疗的时代到来了吗?

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-03-01 Epub Date: 2025-01-31 DOI:10.1002/pd.6747
Xinyu Fu, Yanjie Xia, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Jingqi Zhu, Huanyun Li, Shitong Wu, Di Wu, Xiangdong Kong
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引用次数: 0

摘要

背景:先天性肾上腺增生症(CAH)是一种常见的代谢性遗传病。早期诊断和干预对改善预后至关重要。无创产前诊断(NIPD)是一种早期、安全、准确的方法。本研究旨在评价CAH的NIPD,指导个体化宫内治疗。方法:选取21-羟化酶缺乏症(21-OHD)患儿风险为25%的20个家庭。基于目标测序和家族连锁分析构建单倍型。采用相对单倍型剂量(Relative haplotype dose, RHDO)结合贝叶斯因子推测胎儿基因型。进行有创产前诊断,验证NIPD的可靠性。对于受影响的女性胎儿,宫内治疗一直持续到分娩。结果:在20个家庭中,NIPD成功鉴定出1例女胎,4例男胎,9例杂合子,5例正常胎。NIPD的一次通过成功率为90%(18/20),报告率为95%(19/20),准确率为100%(19/19)。个体化宫内治疗避免了88.9%(8/9)未受影响女性胎儿的不必要治疗。此外,在接受宫内治疗的CAH16新生儿中未观察到明显的男性化。结论:NIPD对21-OHD家族妊娠的早期治疗和临床管理具有重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Has the Era of Individualized Intrauterine Treatment for Congenital Adrenal Hyperplasia Arrived?

Background: Congenital adrenal hyperplasia (CAH) is a common metabolic genetic disease. Early diagnosis and intervention are crucial to improve the prognosis. Noninvasive prenatal diagnosis (NIPD) is an early, safe, and accurate method. This study aimed to evaluate the NIPD of CAH while guiding individualized intrauterine treatment.

Methods: Twenty families with a 25% risk of having a baby with 21-hydroxylase deficiency (21-OHD) were included. Haplotypes were constructed based on targeted sequencing and family linkage analysis. Relative haplotype dosage (RHDO) combined with Bayes factor was used to infer fetal genotypes. Invasive prenatal diagnosis was performed to verify the reliability of NIPD. For affected-female fetuses, intrauterine treatment was applied until delivery.

Results: In 20 families, NIPD successfully identified one female-affected fetus, four male-affected fetuses, nine heterozygotes, and five normal fetuses. The first-pass success rate of NIPD was 90% (18/20), the reporting rate was 95% (19/20), and the accuracy was 100% (19/19). Individualized intrauterine treatment avoided 88.9% (8/9) of unnecessary treatment of unaffected female fetuses. Moreover, no significant virilization was observed in the newborn of CAH16, which underwent intrauterine treatment.

Conclusion: NIPD has far-reaching implications for the early treatment and clinical management of pregnancy in families with 21-OHD.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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