胎儿脊柱裂转诊中父母的管理选择和不一致的超声波检查结果。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2024-10-09 DOI:10.1002/pd.6677
Emma Van den Eede, Simen Vergote, Lennart Van der Veeken, Francesca Russo, Johannes Van der Merwe, Sofia Mastrodima-Polychroniou, Luc De Catte, Jan Deprest
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引用次数: 0

摘要

目的产前超声波检查可评估脊柱裂的严重程度。形态学检查结果有助于父母选择处理方案。我们旨在记录自引入胎儿手术以来的处理选择,并将转诊前的初始超声检查结果与胎儿手术中心的结果进行比较:方法:单中心队列研究,对象为 245 例连续第二孕期诊断为 SBA 的胎儿。数据包括转诊性质(评估或手术)、超声检查的具体结果以及进一步处理。我们将初次超声检查报告的结果与我们的结果进行了比较,以确定是否存在后脑疝、病变程度、脑室宽度、脊柱后凸、腿部运动和马蹄内翻足:72%(n = 177)的胎儿符合手术条件;60%(n = 106)的父母选择了胎儿手术。在136名明确转诊的手术患者中,27人不符合手术条件(20%)。其他 93 人接受了手术。在多达28%(n = 30)的手术转介患者中,病变程度(n = 30,28%)或腿部活动(72%,n = 78)等作为严重程度指标的资格标准未被报告:结论:在转诊的患者中,胎儿手术的接受率很高。结论:转诊接受手术的患者中,接受胎儿手术的比例较高。在胎儿手术中心进行第二次评估时,往往会发现更多相关信息。
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Parental Management Choices and Discordant Ultrasound Findings in Referrals for Fetal Spina Bifida.

Objective: The severity of spina bifida aperta can be assessed prenatally by ultrasound. Morphological findings assist parents in choosing between management options. We aimed to document those management choices since the introduction of fetal surgery, and compare initial ultrasound findings prior to referral to findings in a fetal surgery center.

Method: Single center cohort study of 245 consecutive fetuses with a second-trimester diagnosis of SBA. Data included nature of referral (for assessment or for surgery), condition-specific findings on ultrasound, and further management. We compared the reported findings on the initial ultrasound to ours for the presence of hindbrain herniation, lesion level, ventricular width, kyphosis, leg movement, and club feet.

Results: Seventy-two percent (n = 177) of fetuses met the eligibility criteria for surgery; in 60% (n = 106) parents opted for fetal surgery. Of 136 patients specifically referred for surgery, 27 were ineligible (20%). Of the others, 93 proceeded with surgery. In up to 28% (n = 30) of surgery referrals, eligibility criteria such as lesion level (n = 30, 28%) or leg movement (72%, n = 78) as severity indicators were not reported.

Conclusion: Fetal surgery uptake was high in patients referred for surgery. Second assessment in a fetal surgery center often reveals additional relevant information.

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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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