PDF(Pubmed)
Abstract：
UNASSIGNED: CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder. This is significant because the patient may receive genetic counseling and appropriate disposal based on the accurate diagnosis.
UNASSIGNED: CHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the CHD7 gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination.
UNASSIGNED: CHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the CHD7 gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination.
摘要：
■CHARGE综合征是一种罕见的遗传性疾病，其特征是有几个不同的特征。胎儿耳朵异常的存在可能是CHARGE综合征的早期指标。随后的产前诊断对于确认该疾病至关重要。这是重要的，因为患者可能会接受遗传咨询和基于准确诊断的适当处置。
■CHARGE综合征是一种罕见的遗传性疾病，具有多种特定的临床特征。产前诊断至关重要，但很少实现。我们报告了在妊娠第22周通过超声检测到的胎儿外耳异常。产后检查发现外耳异常,轻度房间隔缺损,和其他CHARGE综合征的临床症状。CHD7基因中的从头致病性无义突变（c.406.C>T，外显子2中的p.Q136X)被鉴定为导致该疾病。我们的研究表明，当超声检查发现胎儿外耳异常时，建议进行产前诊断和基因检测以获得CHARGE综合征的可靠诊断。
■CHARGE综合征是一种罕见的遗传性疾病，具有多种特定的临床特征。产前诊断至关重要，但很少实现。我们报告了在妊娠第22周通过超声检测到的胎儿外耳异常。产后检查发现外耳异常,轻度房间隔缺损,和其他CHARGE综合征的临床症状。CHD7基因中的从头致病性无义突变（c.406.C>T，外显子2中的p.Q136X)被鉴定为导致该疾病。我们的研究表明，当超声检查发现胎儿外耳异常时，建议进行产前诊断和基因检测以获得CHARGE综合征的可靠诊断。
