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扩展XXX综合征的表型:产前诊断与产后诊断的比较

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

作者信息

Wigby Kristen, D'Epagnier Cheryl, Howell Susan, Reicks Amy, Wilson Rebecca, Cordeiro Lisa, Tartaglia Nicole

机构信息

Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.

Division of Genetics, Department of Pediatrics, University of California San Diego, La Jolla, California.

出版信息

Am J Med Genet A. 2016 Nov;170(11):2870-2881. doi: 10.1002/ajmg.a.37688. Epub 2016 Sep 19.

Abstract

Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc.

摘要

XXX综合征(47, XXX)在女性出生中的发生率约为1:1000,其身体和心理特征的表型具有多样性。由于无创产前基因检测,47, XXX的产前诊断率正在上升。先前的研究表明,产前诊断出的女性具有更好的神经发育结果。这项横断面研究描述了一大群患有XXX综合征的女性的诊断情况、身体特征、医学问题和神经发育特征。评估包括回顾医学和发育史、体格检查、认知和适应性测试。使用率计算和Fisher精确检验对产前和产后诊断组之间的医学和发育特征进行比较。使用t检验比较认知和适应性测试分数。74名年龄在6个月至24岁(平均8.3岁)的女性参与了研究。44名(59.5%)女性在产前诊断组。产后诊断的平均年龄为5.9岁;发育迟缓是产后基因检测最常见的指征。常见的身体特征包括眼距增宽、内眦赘皮、小指内弯和肌张力减退。医学问题包括牙齿疾病(44.4%)、癫痫疾病(16.2%)、泌尿生殖系统畸形(12.2%)。产前诊断组的语言能力(P < 0.001)、一般能力指数(P = 0.004)和适应性功能得分(P < 0.001)更高。两组之间注意力缺陷多动障碍(ADHD)的发生率(52.2%对45.5%,P = 0.77)和学习障碍的发生率(39.1%对36.3%,P = 1.00)相似。这些发现扩展了XXX综合征女性的表型特征,并支持产前确诊的女性具有更好的认知和功能结果。然而,产前诊断出的女性仍有患神经发育障碍的风险。总结了遗传咨询和治疗建议。© 2016威利期刊公司

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