全国胎儿脊柱裂手术服务的当代成果。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2024-10-19 DOI:10.1002/pd.6689
Charlotte C Kik, Yada Kunpalin, Abhaya V Kulkarni, Abby Varghese, Nimrah Abbasi, Greg Ryan, Philip L J Dekoninck, Paige T Church, Armaan Malhotra, Kamini Raghuram, Edmond Kelly, Tim Van Mieghem
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引用次数: 0

摘要

目的评估在加拿大接受开放性胎儿脊柱裂手术的胎儿的当代结局:我们的临床项目前瞻性地收集了所有在多伦多安大略胎儿中心(Ontario Fetal Center)接受开放式胎儿脊柱裂闭合手术的连续胎儿的结果,这些胎儿在产后随访时至少已满一岁。我们收集了有关脑积水治疗需求、运动功能、膀胱功能以及神经发育(年龄与阶段问卷和贝利婴儿发育量表)的信息。发育结果分为 "典型发育"、"可能延迟 "或 "明显延迟":2017年至2022年间,41名胎儿接受了开放性胎儿脊柱裂闭合术。24名患者(58.5%)回答了问卷,中位年龄为46.5个月。8名患儿(33.3%)需要进行脑脊液转流手术。膀胱管理包括清洁间歇导尿(43.5%)、自主排尿(34.8%)或两者兼有(21.7%),其中43.5%的患者需要服用药物治疗膀胱过度活动症。所有患者都能独立坐立,50%的患者能在户外行走,50%的患者能在室内爬行。在室外行走的儿童(50%)中,25%的儿童不需要矫形器或辅助工具,58.3%的儿童需要矫形器,16.7%的儿童需要额外的行走辅助工具。大多数患儿(79.2%)具有典型的沟通和解决问题的能力,而91.7%的患儿的粗大运动发育明显迟缓。精细动作技能各不相同,56.5%的儿童表现出典型的发育,34.8%的儿童可能出现发育迟缓:这项研究显示,接受开放性胎儿脊柱裂修复术的患者发育情况参差不齐,与MOMs试验结果一致。
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Contemporary Outcomes of a National Fetal Spina Bifida Surgery Service.

Objective: To assess contemporary outcomes of fetuses who underwent open fetal spina bifida surgery in Canada.

Methods: Our clinical program prospectively collected outcomes of all consecutive fetuses who underwent open fetal spina bifida closure at the Ontario Fetal Center in Toronto and who were at least 1 year of age at the time of postnatal follow-up. We gathered information on the need for hydrocephalus treatment, motor function, bladder function, as well as neurodevelopment (Ages and Stages Questionnaire and Bayley's scales of infant development). Developmental outcomes were categorized as "Typical Development," "Possible Delay," or "Significantly Delayed."

Results: Between 2017 and 2022, 41 fetuses underwent open fetal spina bifida closure. Twenty-four patients (58.5%) responded to the questionnaire at a median age of 46.5 months. Eight children (33.3%) required CSF diversion procedures. Bladder management included clean intermittent catheterization (43.5%), spontaneous voiding (34.8%), or both (21.7%), with 43.5% needing medication for overactive bladder. All patients could sit independently, with 50% walking outside and 50% crawling indoors. Among those walking outdoors (50%), 25% did so without orthotics or aid, 58.3% with orthotics, and 16.7% required additional walking aids. Most children demonstrated typical communication and problem-solving skills (79.2%), while gross motor development was significantly delayed in 91.7% of cases. Fine motor skills varied, with 56.5% showing typical development and 34.8% possibly experiencing delays.

Conclusions: This study showed a mixed developmental profile among patients who underwent open fetal spina bifida repair, consistent with the MOMs trial findings.

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来源期刊
Prenatal Diagnosis
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
期刊最新文献
Short- and Long-Term Outcomes of Prenatally Identified Congenital Aqueductal Stenosis by Fetal MRI. Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations. Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome. Application of Genetic Origin Analysis of Copy Number Variations in Non-Invasive Prenatal Testing. Contemporary Outcomes of a National Fetal Spina Bifida Surgery Service.
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