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唐氏综合征及相关发育异常和退行性缺陷的产前和产后治疗:指南与试验的系统评价

Prenatal and Postnatal Therapies for Down's Syndrome and Associated Developmental Anomalies and Degenerative Deficits: A Systematic Review of Guidelines and Trials.

作者信息

Hasina Zinnat, Wang Chi Chiu

机构信息

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.

Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.

出版信息

Front Med (Lausanne). 2022 Jul 5;9:910424. doi: 10.3389/fmed.2022.910424. eCollection 2022.

DOI:10.3389/fmed.2022.910424
PMID:35865169
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9294288/
Abstract

Down's syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth are features of DS. Early treatment for the manifestations associated with DS in either prenatal or postnatal period may improve clinical outcomes. However, information available from professional bodies and to communities is very limited. We carried out a systematic review and attempted meta-analysis of clinical trials for developmental abnormalities and degenerative deficits in DS. Only 15 randomized controlled trials (RCTs) in 995 (24 days to 65 years old) individuals with DS showed some improvement in cognitive disorders, development and growth, and musculoskeletal problem. However, each trial used different parameters and methods to measure various outcomes. RCTs of prenatal interventions in fetus with DS are lacking. The efficacy and safety of specific interventions in DS are still largely unknown. Proper counseling of the potential treatment for pregnant mothers who wish to continue their pregnancy carrying fetus with DS, and to health care professionals who take care of them are not adequate nowadays.

摘要

唐氏综合征(DS)是最常见的出生时即患的遗传性疾病。出生前多种发育异常以及出生后退行性缺陷的早发是唐氏综合征的特征。对唐氏综合征产前或产后相关表现的早期治疗可能改善临床结局。然而,专业机构和社区可获取的信息非常有限。我们对唐氏综合征发育异常和退行性缺陷的临床试验进行了系统评价并尝试进行荟萃分析。在995名(年龄从24天至65岁)唐氏综合征患者中,仅有15项随机对照试验(RCT)显示在认知障碍、发育与生长以及肌肉骨骼问题方面有一定改善。然而,每项试验使用不同参数和方法来测量各种结果。缺乏针对唐氏综合征胎儿的产前干预随机对照试验。唐氏综合征特定干预措施的疗效和安全性在很大程度上仍不明确。如今,对于希望继续妊娠怀有唐氏综合征胎儿的孕妇以及照顾她们的医护人员,关于潜在治疗的恰当咨询并不充分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/c5c6cb913c6c/fmed-09-910424-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/da0b10623f0a/fmed-09-910424-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/9b4fe7e5f5e9/fmed-09-910424-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/c5c6cb913c6c/fmed-09-910424-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/da0b10623f0a/fmed-09-910424-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/9b4fe7e5f5e9/fmed-09-910424-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae6/9294288/c5c6cb913c6c/fmed-09-910424-g0003.jpg

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J Obstet Gynaecol Res. 2017 Aug;43(8):1245-1255. doi: 10.1111/jog.13373. Epub 2017 Jun 6.
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Treating trisomies: Prenatal Down's syndrome therapies explored in mice.治疗三体综合征:在小鼠中探索产前唐氏综合征疗法。
Nat Med. 2016 Jan;22(1):6-7. doi: 10.1038/nm0116-6.
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Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013.1980年至2013年西澳大利亚州产前筛查与诊断检测对唐氏综合征出生及终止妊娠趋势的影响
Prenat Diagn. 2015 Dec;35(13):1324-30. doi: 10.1002/pd.4698. Epub 2015 Nov 19.
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Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States.美国唐氏综合征活产、自然流产及选择性终止妊娠的估计数据。
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