目的:描述产前诊断为孤立的完全call体发育不全(cACC)的儿童的长期结局。
方法:在这个单中心案例系列中,我们回顾性回顾了2004年1月至2020年7月因疑似call体异常(CC)转诊至我们胎儿治疗单位的胎儿图表.包括产前诊断为孤立的cACC的病例。羊水的胎儿核型和比较基因组杂交微阵列,除了胎儿磁共振成像,提供给所有诊断为胎儿CC畸形的孕妇。幸存的孩子参加了我们机构的神经发育随访计划,其中包括产后磁共振成像,连续的神经系统检查和神经发育评估,根据年龄进行标准化测试。为居住在偏远地区或远离我们机构的家庭提供了结构化的临时电话采访。
结果:共发现128例胎儿CC畸形妊娠(诊断时的平均胎龄,24.5(范围,21-34)周),其中53例产前诊断为明显孤立的cACC。其中,12例终止妊娠,1例导致妊娠24周时宫内死亡,13例失访.剩下的27个孩子,由于出生后诊断的相关染色体异常(8p21.3q11.21马赛克重复)而被排除在外,如果父母同意羊膜穿刺术,可以在产前发现。在分析中包括的26名儿童中,神经发育随访的中位数为3(范围,1-16)年。三名(11.5%)婴儿有严重的神经发育障碍,其中两个在出生后被诊断出患有遗传综合征(Mowat-Wilson综合征和Vici综合征),而这些综合征在出生前不会被诊断出来。7名(26.9%)儿童有轻度神经发育障碍,16名(61.5%)的神经发育结果正常。3名严重神经发育障碍患儿的全面智商分别为50、64和63,而其余儿童的儿童在正常范围内(中位数,101;范围,89-119)。
结论:在本研究中纳入的88%的cACC儿童中,神经发育未受到严重损害.然而,建议对所有先天性孤立性cACC病例进行长期随访,以尽早识别细微的神经发育障碍。©2022国际妇产科超声学会。
OBJECTIVE: To describe the long-term outcome of children with prenatally diagnosed isolated complete agenesis of the corpus callosum (cACC).
METHODS: In this single-center
case series, we reviewed retrospectively the charts of fetuses referred to our fetal therapy unit from January 2004 to July 2020 for a suspected anomaly of the corpus callosum (CC). Cases with prenatally diagnosed isolated cACC were included. Fetal karyotype and comparative genomic hybridization microarray of amniotic fluid, in addition to fetal magnetic resonance imaging, were offered to all pregnant women with a diagnosis of fetal CC malformation. The surviving children were enrolled in the neurodevelopmental follow-up program at our institution, which included postnatal magnetic resonance imaging, serial neurological examinations and neurodevelopmental evaluations with standardized tests according to age. Families living in remote areas or far from our institution were offered a structured ad-hoc phone interview.
RESULTS: A total of 128 pregnancies with fetal CC malformation were identified (mean gestational age at diagnosis, 24.5 (range, 21-34) weeks), of which 53 cases were diagnosed prenatally with apparently isolated cACC. Of these, 12 cases underwent termination of pregnancy, one resulted in intrauterine demise at 24 weeks of gestation and 13 cases were lost to follow-up. Of the remaining 27 children, one was excluded due to an associated chromosomal anomaly (8p21.3q11.21 mosaic duplication) diagnosed after birth, which could have been detected prenatally if the parents had consented to amniocentesis. In the 26 children included in the analysis, neurodevelopmental follow-up was available for a median of 3 (range, 1-16) years. Three (11.5%) infants had severe neurodevelopmental impairment, two of which were diagnosed postnatally with a genetic syndrome (Mowat-Wilson syndrome and Vici syndrome) that would not have been diagnosed prenatally. Seven (26.9%) children had mild neurodevelopmental impairment and 16 (61.5%) had normal neurodevelopmental outcome. The Full-Scale Intelligence Quotients of the three children with severe neurodevelopmental impairment were 50, 64 and 63, respectively, while that of the remaining children was in the normal range (median, 101; range, 89-119).
CONCLUSIONS: In 88% of the children with cACC included in this study, neurodevelopment was not severely impaired. However, long-term follow-up is recommended in all cases of congenital isolated cACC to recognize subtle neurodevelopmental disorders as early as possible. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.