Abstract：
BACKGROUND: CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific.
METHODS: This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise at 16 weeks gestation. The remaining 10 (76.9%; 10/13) cases had abnormal ultrasound features in utero; among these, 1 had an increased nuchal translucency in the first trimester, 5 had second-trimester abnormal ultrasounds including micrognathia, cardiac defects, and facial defects, and 4 third-trimester abnormal ultrasounds including micrognathia, isolated fetal growth restriction, and polyhydramnios. Among the 11 cases with abnormal prenatal ultrasound scans, no fetus could reach the diagnostic criteria of CHARGE syndrome if only based on the results of ultrasound. However, the diagnosis was made in all cases when CHD7 defects were detected.
CONCLUSIONS: The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic workup will aid in prenatal diagnosis of this syndrome.
METHODS: This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise at 16 weeks gestation. The remaining 10 (76.9%; 10/13) cases had abnormal ultrasound features in utero; among these, 1 had an increased nuchal translucency in the first trimester, 5 had second-trimester abnormal ultrasounds including micrognathia, cardiac defects, and facial defects, and 4 third-trimester abnormal ultrasounds including micrognathia, isolated fetal growth restriction, and polyhydramnios. Among the 11 cases with abnormal prenatal ultrasound scans, no fetus could reach the diagnostic criteria of CHARGE syndrome if only based on the results of ultrasound. However, the diagnosis was made in all cases when CHD7 defects were detected.
CONCLUSIONS: The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic workup will aid in prenatal diagnosis of this syndrome.
摘要：
引言CHARGE综合征是一种具有已知特征模式的常染色体显性遗传疾病。该研究的目的是介绍CHARGE综合征的胎儿特征，以认识到产前特征可能非常非特异性。病例介绍这是一项回顾性研究，对13例产前或产后基因检测和体格检查诊断为CHARGE综合征的病例进行了研究。两个（15.4％；2/13）在怀孕期间进行了正常的超声扫描。1例（7.7％；1/13）在妊娠16周时出现宫内胎儿死亡（IUFD）。其余10例(76.9%;10/13)子宫内超声特征异常;其中,1在孕早期颈部半透明增加，5例妊娠中期超声异常，包括小颌畸形，心脏缺陷和面部缺陷，和4个妊娠晚期异常超声，包括小颌畸形，孤立的胎儿生长受限和羊水过多。11例产前超声检查异常,如果仅根据超声检查结果，则胎儿无法达到CHARGE综合征的诊断标准。然而,所有病例均在检测到CHD7缺陷时作出诊断.讨论/结论CHARGE综合征在子宫内表现出非特异性异常超声标志物。基因工作中的外显子组测序将有助于该综合征的产前诊断。
