Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort.

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2026-09-01 Epub Date: 2026-07-14 DOI:10.1002/pd.70224

Benjamin Birene, Jean-Paul Bory, Eloi Dondeyne, Anne Charbonneau, Clémence Jacquin, Emilie Landais, Mohamed Dakin, Olivier Graesslin

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引用次数: 0

Abstract

Objective: To describe diagnostic trajectories and parental decision-making following increased first-trimester nuchal translucency (NT), according to NT thickness.

Method: This 12-year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first-trimester NT ≥ 3.5 mm, with or without structural anomalies.

Results: Termination of pregnancy occurred in 180/316 pregnancies (57.0%), while 91/316 (28.8%) resulted in live birth without pathology. TOP without prior invasive prenatal testing increased from 7.4% in the 3.5-< 5.0 mm group to 35.0% in the ≥ 6.5 mm group. Invasive prenatal testing was performed in 248 pregnancies. Among 137 pregnancies with an abnormal genetic result and known outcome, 12 (8.8%) were continued. Structural ultrasound assessment was performed in 111 pregnancies; 17/29 (58.6%) with abnormal findings were continued. Among 51 pregnancies that continued after normal genetic testing and normal structural ultrasound, 42 (82.4%) resulted in live birth without pathology at the last follow-up, including 3/8 (37.5%) with NT ≥ 6.5 mm.

Conclusion: Parental decisions and outcomes varied with NT thickness. Integrating NT measurements with sequential genetic and ultrasound findings may support individualized prenatal counseling.

查看原文本刊更多论文

增加孕早期颈部透明度后父母决策和妊娠结局：一项12年队列研究。

目的：描述妊娠早期颈部半透明（NT）厚度增加后的诊断轨迹和父母决策。方法：这项为期12年的回顾性队列研究在法国第三产前诊断和胎儿医学中心进行，包括316例早期妊娠NT≥3.5 mm，伴有或不伴有结构异常的单胎妊娠。结果：180/316例妊娠终止（57.0%），91/316例（28.8%）无病理产活。未事先进行有创产前检查的TOP从3.5-< 5.0 mm组的7.4%增加到≥6.5 mm组的35.0%。对248例妊娠进行有创产前检查。在137例遗传结果异常且结局已知的妊娠中，12例（8.8%）继续妊娠。对111例妊娠进行结构超声评估；17/29（58.6%）有异常表现。在51例基因检测和结构超声检查正常的妊娠中，42例（82.4%）在最后一次随访时无病理活产，其中3/8例（37.5%）NT≥6.5 mm。结论：父母的决定和结局随NT厚度的不同而不同。整合NT测量与序列遗传和超声结果可能支持个体化产前咨询。

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