Hasina Zinnat, Wang Chi Chiu
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.
Front Med (Lausanne). 2022 Jul 5;9:910424. doi: 10.3389/fmed.2022.910424. eCollection 2022.
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.
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。