A review of a perinatal genetics and genomics service's role in prenatal diagnosis.

Q3 Medicine

Irish medical journal Pub Date : 2026-06-18

G McMahon, T Rigney, S Doyle

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引用次数: 0

Abstract

Aims: The aim of this study was to review prenatal anomaly cases referred to the Department of Perinatal Genetics and Genomics at the National Maternity Hospital.

Methods: We conducted a retrospective review of all patients who were referred to the Department between August 2021 to April 2025. We included cases referred for consideration of further genetic testing because of a fetal anomaly where initial QF-PCR and chromosomal microarray studies did not reveal a genetic diagnosis.

Results: There were 109 patients who met our inclusion criteria. A molecular diagnosis was made in 56 (51.4%) of this cohort. These diagnoses were apparently de novo in 35 cases (62.5%) and inherited in 21 (37.5%). Pregnancy outcomes showed 31 cases (28.4 %) had a livebirth surviving the neonatal period.

Discussion: Our findings demonstrate the high diagnostic yield and clinical value of a dedicated Perinatal Genetics and Genomics service as part of the multi-disciplinary team for prenatal diagnosis. These cases all have a higher rate of recurrence in subsequent pregnancies compared to the empiric risk, indicating a need for ongoing genetics counselling in subsequent pregnancies. This data also indicates a high proportion of these patients experience a fetal or neonatal loss and that appropriate psychological input is needed.

本刊更多论文

围产期遗传学和基因组学服务在产前诊断中的作用综述。

目的：本研究的目的是审查产前异常的情况下转介到围产期遗传学和基因组学在国家妇产医院。方法：我们对2021年8月至2025年4月期间转诊至该科的所有患者进行回顾性分析。我们纳入了考虑进一步基因检测的病例，因为胎儿异常，最初的QF-PCR和染色体微阵列研究没有显示遗传诊断。结果：109例患者符合我们的纳入标准。该队列中有56人（51.4%）进行了分子诊断。这些诊断35例（62.5%）明显为新发，21例（37.5%）为遗传。妊娠结局显示31例（28.4%）新生儿期活产。讨论：我们的研究结果表明，一个专门的围产期遗传学和基因组学服务作为产前诊断的多学科团队的一部分，具有很高的诊断率和临床价值。与经验风险相比，这些病例在后续妊娠中的复发率都较高，这表明在后续妊娠中需要进行持续的遗传学咨询。这一数据还表明，这些患者中有很高比例的胎儿或新生儿丢失，需要适当的心理输入。

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

Irish medical journal Medicine-Medicine (all)

CiteScore

1.00

自引率

0.00%

发文量

139

期刊介绍： Since its inception in 1867, the Journal of the Medical Association of Ireland and now in its present format, the Irish Medical Journal, has provided the medical community in Ireland with an invaluable service. As one of the leading biomedical publications in Ireland, it has sought to continue the education of medical students and postgraduates through scientific research, review articles and updates on contemporary clinical practices while providing an ongoing forum for medical debate. A measure of our stature is that we are listed in the Index Medicus and issued annually with a citation factor from the Institute for Scientific Information.