Very elevated hCGβ (≥10 multiple of the median) in maternal marker screening for Down syndrome: Frequency, etiologies, outcomes, and guidelines.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2024-07-01 Epub Date: 2024-05-17 DOI:10.1002/pd.6588

Sophie Dreux, Jonathan Rosenblatt, Jérôme Massardier, Alexandra Benachi, Etienne Voirin-Mathieu, Françoise Muller

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引用次数: 0

Abstract

Aim: This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines.

Methods: This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM. Complementary exams and outcomes were analyzed.

Results: The calculated frequency was 0.05% for hCGβ ≥10 MoM in unselected patients. For this series of 289 cases, a complication of the pregnancy or a poor outcome was observed in 145 cases (51%) as follows: 96 (66%) cases of fetal disease, 23 (16%) of maternal disease, 5 (3.5%) of placental anomalies and 21 (14.5%) of systemic disease concerning mother, fetus and placenta.

Conclusion: This study establishes the frequency of hCG or hCGβ values ≥10 MoM, presents a flow chart that optimizes follow-up, and gives clear information for patients presenting with such abnormal values at trisomy 21 screening.

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唐氏综合征母体标志物筛查中 hCGβ极度升高（≥中位数的 10 倍）：频率、病因、结果和指南。

目的：本研究的目的是在全国范围内详细观察在唐氏综合征筛查中出现高 hCG 值（≥10 倍中位数 [MoM]）的庞大法国队列中的母体和胎儿畸形情况，以便制定明确和最佳的指导原则：这是一项基于法国 21 三体综合征筛查年度数据库的多中心回顾性研究。我们的研究针对并研究了 hCG 或 hCGβ 值≥10 摩尔的病例。对辅助检查和结果进行了分析：在未经筛选的患者中，hCGβ≥10 MoM的计算频率为0.05%。在这一系列 289 例病例中，有 145 例（51%）出现了妊娠并发症或不良结局，具体情况如下：96例（66%）为胎儿疾病，23例（16%）为母体疾病，5例（3.5%）为胎盘异常，21例（14.5%）为母亲、胎儿和胎盘的全身性疾病：本研究确定了 hCG 或 hCGβ 值≥10 摩尔的频率，提出了优化随访的流程图，并为在 21 三体综合征筛查中出现此类异常值的患者提供了明确的信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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