Down syndrome and associated atrioventricular septal defects in a nationwide Norwegian cohort: Prevalence, time trends, and outcomes

IF 3.5 2区医学 Q1 OBSTETRICS & GYNECOLOGY Acta Obstetricia et Gynecologica Scandinavica Pub Date : 2024-08-05 DOI:10.1111/aogs.14932

Cecilie Bryn Nordklev, Ola Gjesdal, Nina Gunnes, Henrik Holmstrøm, Nils-Halvdan Morken, Siri Vangen, Vasilis Sitras

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Abstract

Introduction

The prevalence of Down syndrome (DS) is approximately 1 per 1000 births and is influenced by increasing maternal age over the last few decades. DS is strongly associated with congenital heart defects (CHDs), especially atrioventricular septal defect (AVSD). Our objectives were to investigate the prevalence of live-born infants with DS having a severe CHD in the Norwegian population over the last 20 years and compare outcomes in infants with AVSD with and without DS.

Material and Methods

Information on all births from January 1, 2000 to December 31, 2019 was obtained from the Medical Birth Registry of Norway. We also obtained data on all infants with severe CHDs in Norway registered in Oslo University Hospital's Clinical Registry for Congenital Heart Defects during 2000–2019 and accessed individual-level patient data from the electronic hospital records of selected cases. Infants with AVSD and DS were compared to infants with AVSD without chromosomal defects. Crude and adjusted odds ratios (ORs) of infant mortality and need for surgery during the first year of life, with associated 95% confidence intervals (CIs), were estimated by logistic regression.

Results

A total of 1 177 926 infants were live-born in Norway during the study period. Among these, 1456 (0.1%) had DS. The prevalence of infants with DS having a severe CHDs was relatively stable, with a mean of 17 cases per year. The most common CHD associated with DS was AVSD (44.4%). Infants with AVSD and DS were more likely to have cardiac intervention during their first year of life compared to infants with AVSD without chromosomal defects (adjusted OR [aOR]: 2.52; 95% CI 1.27, 4.98). However, we observed no difference in infant mortality during first year of life between the two groups (aOR: 1.08; 95% CI 0.43, 2.70).

Conclusions

The prevalence of live-born infants with severe CHDs and DS has been stable in Norway across 20 years. Infants with AVSD and DS did not have higher risk of mortality during their first year of life compared to infants with AVSD without chromosomal defects, despite a higher risk of operative intervention.

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挪威全国性队列中的唐氏综合征和相关房室间隔缺损：发病率、时间趋势和结果。

导言：唐氏综合征（DS）的发病率约为每 1000 名新生儿中 1 例，在过去的几十年中，其发病率受到了孕产妇年龄增加的影响。唐氏综合征与先天性心脏缺陷（CHD）密切相关，尤其是房室间隔缺损（AVSD）。我们的目标是调查过去20年中挪威人口中患有严重先天性心脏病的DS活产婴儿的发病率，并比较患有和不患有DS的AVSD婴儿的预后：我们从挪威出生医学登记处获得了2000年1月1日至2019年12月31日期间所有新生儿的信息。我们还获得了 2000 年至 2019 年期间在奥斯陆大学医院先天性心脏缺陷临床登记处登记的挪威所有严重先天性心脏病婴儿的数据，并从选定病例的电子医院记录中获取了个人层面的患者数据。将患有AVSD和DS的婴儿与患有AVSD但无染色体缺陷的婴儿进行了比较。通过逻辑回归估算了婴儿死亡率和出生后第一年手术需求的粗略和调整后的几率比（ORs），以及相关的 95% 置信区间（CIs）：研究期间，挪威共有1 177 926名活产婴儿。其中，1456名婴儿（0.1%）患有DS。患有严重先天性心脏病的DS婴儿的发病率相对稳定，平均每年17例。与 DS 相关的最常见的先天性心脏病是 AVSD（44.4%）。与无染色体缺陷的 AVSD 婴儿相比，患有 AVSD 和 DS 的婴儿更有可能在出生后第一年接受心脏介入治疗（调整 OR [aOR]：2.52；95% CI 1.27，4.98）。然而，我们观察到两组婴儿在出生后第一年的死亡率没有差异（aOR：1.08；95% CI 0.43-2.70）：结论：在挪威，患有严重先天性心脏病和DS的活产婴儿的发病率在20年间保持稳定。与无染色体缺陷的AVSD婴儿相比，患有AVSD和DS的婴儿在出生后第一年的死亡风险并不高，尽管手术干预的风险更高。

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

Acta Obstetricia et Gynecologica Scandinavica 医学-妇产科学

CiteScore

8.00

自引率

4.70%

发文量

180

审稿时长

3-6 weeks

期刊介绍： Published monthly, Acta Obstetricia et Gynecologica Scandinavica is an international journal dedicated to providing the very latest information on the results of both clinical, basic and translational research work related to all aspects of women’s health from around the globe. The journal regularly publishes commentaries, reviews, and original articles on a wide variety of topics including: gynecology, pregnancy, birth, female urology, gynecologic oncology, fertility and reproductive biology.