Non-Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First Trimester Cystic Hygroma Outcomes.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-04-02 DOI:10.1002/pd.6791

Michelle Joy Wang, Maria Bazan, Davia Schioppo, Karen Marchand, Millie A Ferrés, Yinka Oyelese, Barbara O'Brien

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引用次数: 0

Abstract

Objectives: The aim of our study was to describe outcomes of fetuses with cystic hygromas (CH) based on results of non-invasive prenatal testing (NIPT), nuchal translucency (NT) size, and spontaneous hygroma regression.

Methods: This was a retrospective cohort study of all patients with a CH diagnosed on first trimester ultrasound at our institution over a 9-year period. The primary outcomes were pathogenic genetic abnormalities, structural malformations and perinatal loss. Secondary outcomes included pregnancy termination, live birth, and a composite of primary outcomes.

Results: Of 294 fetuses with CH, 184 (64%) had a genetic abnormality, and among the fetuses with no known genetic diagnosis, 26 (25%) had at least one structural anomaly. Low risk NIPT result was associated with a 19% (13/71) residual risk of aneuploidy, copy number variant, or other pathogenic genetic finding and the frequency of all adverse outcomes rose with increasing NT size. Finally, of 31 cases of expectantly managed CH cases that resolved in the second trimester, only 4 (13%) had a genetic abnormality.

Conclusion: NIPT results, nuchal translucency size, and early resolution are modifiers in the outcomes associated with CH in the first trimester.

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无创产前检查结果、颈部半透明大小和妊娠中期分辨率改变妊娠早期囊性水肿的预后。

目的：本研究的目的是根据无创产前检查（NIPT）、颈部透明度（NT）大小和自发性水瘤消退的结果来描述囊性水瘤（CH）胎儿的预后。方法：这是一项回顾性队列研究，研究对象是在我们机构9年的时间里，通过妊娠早期超声诊断为CH的所有患者。主要结局为致病性遗传异常、结构畸形和围产期损失。次要结局包括终止妊娠、活产和综合主要结局。结果：在294例CH胎儿中，184例（64%）存在遗传异常，在没有已知遗传诊断的胎儿中，26例（25%）存在至少一种结构异常。低风险NIPT结果与19%（13/71）的非整倍体、拷贝数变异或其他致病遗传发现的剩余风险相关，所有不良结果的发生频率随着NT大小的增加而增加。最后，在31例在妊娠中期解决的预期管理CH病例中，只有4例（13%）有遗传异常。结论：NIPT结果、颈透明大小和早期消退是妊娠早期CH相关结果的调节因素。

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