Department of Paediatrics, KK Women's and Children's Hospital, Paediatric Academic Programme, Singhealth Duke-NUS Medical School, Singapore, Singapore; Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
J Pediatr. 2018 May;196:270-274.e1. doi: 10.1016/j.jpeds.2017.12.046. Epub 2018 Feb 3.
To study the utility of genetic evaluation and testing in patients with suspected fetal alcohol spectrum disorder (FASD).
We performed a retrospective chart review of all patients (n = 36) referred for evaluation for suspected FASD to the genetics clinic at Boston Children's Hospital between January 2006 and January 2013. Records of all patients were reviewed to obtain the medical history, family history, examination findings, and investigations, including genetic testing.
Of the 36 patients, definite prenatal exposure was documented in 69%. Eight patients did not fulfill clinical criteria for FASD. Chromosomal microarray analysis (CMA) detected 19 copy number variants (CNVs) in 14 patients. Among patients who fulfilled criteria for FASD and underwent CMA, pathogenic CNVs were detected in 3 patients (2q37del, 22q11.22dup, and 4q31.21del syndromes), giving a yield of 14.3%. All 3 patients had overlapping features between FASD and the genetic syndrome.
Genetic testing, especially CMA, should be considered in patients referred for evaluation of FASD, as a significant proportion have a clinically significant CNV even when they fulfill diagnostic criteria for FASD spectrum.
研究遗传评估和检测在疑似胎儿酒精谱系障碍（FASD）患者中的应用。
我们对 2006 年 1 月至 2013 年 1 月期间在波士顿儿童医院遗传诊所就诊的所有疑似 FASD 患者（n=36）进行了回顾性图表审查。回顾了所有患者的记录，以获取病史、家族史、检查结果和调查结果，包括遗传检测。
36 例患者中，有 69%有明确的产前暴露史。8 例患者不符合 FASD 的临床标准。染色体微阵列分析（CMA）在 14 例患者中检测到 19 个拷贝数变异（CNVs）。在符合 FASD 标准并进行 CMA 的患者中，3 例患者（2q37del、22q11.22dup 和 4q31.21del 综合征）检测到致病性 CNVs，检出率为 14.3%。所有 3 例患者的 FASD 和遗传综合征之间存在重叠特征。
即使符合 FASD 谱的诊断标准，遗传检测，特别是 CMA，也应考虑在评估 FASD 的患者中进行，因为相当一部分患者存在有临床意义的 CNV。
