Fetal Therapy Unit 'U. Nicolini', Vittore Buzzi Children's Hospital, Milan, Italy.
Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Ultrasound Obstet Gynecol. 2022 Oct;60(4):494-498. doi: 10.1002/uog.24898.
To describe the long-term outcome of children with prenatally diagnosed isolated complete agenesis of the corpus callosum (cACC).
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.
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).
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.
描述产前诊断为孤立性完全胝体发育不全（cACC）患儿的长期预后。
在这项单中心病例系列研究中，我们回顾性分析了 2004 年 1 月至 2020 年 7 月期间因胝体异常而转诊至我院胎儿治疗中心的胎儿病例。纳入了产前诊断为孤立性 cACC 的病例。所有诊断为胎儿胝体畸形的孕妇均接受了羊水胎儿染色体核型分析和比较基因组杂交微阵列分析，以及胎儿磁共振成像检查。存活的患儿在我院参加神经发育随访项目，包括出生后的磁共振成像、连续的神经检查以及根据年龄进行的神经发育评估。居住在偏远地区或远离我院的家庭，我们提供了结构化的临时电话访谈。
共发现 128 例胎儿胝体畸形（平均诊断孕周为 24.5（范围为 21-34）周），其中 53 例产前诊断为明显孤立性 cACC。其中，12 例终止妊娠，1 例宫内死亡发生在 24 周妊娠，13 例失访。在其余 27 例患儿中，1 例因出生后诊断出染色体异常（8p21.3q11.21 镶嵌重复）而被排除在外，如果父母同意羊膜穿刺术，这种异常在产前就可以检测到。在纳入分析的 26 例患儿中，中位随访时间为 3 年（范围为 1-16 年）。3 例（11.5%）患儿有严重的神经发育障碍，其中 2 例在出生后被诊断为遗传综合征（Mowat-Wilson 综合征和 Vici 综合征），这些综合征在产前无法诊断。7 例（26.9%）患儿有轻度神经发育障碍，16 例（61.5%）患儿有正常的神经发育结局。3 例严重神经发育障碍患儿的全量表智商分别为 50、64 和 63，而其余患儿的智商均在正常范围内（中位数为 101；范围为 89-119）。
在本研究纳入的孤立性 cACC 患儿中，88%的患儿神经发育未受严重损害。然而，所有先天性孤立性 cACC 患儿均建议进行长期随访，以便尽早发现轻微的神经发育障碍。© 2022 年国际妇产科超声学会。
