PDF(Pubmed)
Abstract：
BACKGROUND: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or agenesis is a rare disease (1:4000 live births), but it can have serious mental effects.
METHODS: In our study, we processed the data of 64 pregnant women. They attended a prenatal diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics and Gynecology at Semmelweis University.
RESULTS: The pregnancies had the following outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was 25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was performed. If the abnormality was detected before the 20th week, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping gave normal results in three cases (46,XX or XY). In one of these cases, postnatally chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome (3q21.3-21.1 microdeletion). In one case, postnatally, the test found Wiedemann-Rautenstrauch syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22) and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six cases, and Patau syndrome in one case.
CONCLUSIONS: We found that corpus callosum abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic test be performed in all cases to rule out inherited diseases. Also, the long-term outcome does not just depend on the disease\'s severity and the associated other conditions, and hence proper follow-up and early development are also key. For this reason, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital.
METHODS: In our study, we processed the data of 64 pregnant women. They attended a prenatal diagnostic center and genetic counseling from 2005 to 2019 at the Department of Obstetrics and Gynecology at Semmelweis University.
RESULTS: The pregnancies had the following outcomes: 52 ended in delivery, 1 in spontaneous abortion, and 11 in termination of pregnancy (TOP) cases (n = 64). The average time of detection with imaging tests was 25.24 gestational weeks. In 16 cases, prenatal magnetic resonance imaging (MRI) was performed. If the abnormality was detected before the 20th week, a genetic test was performed on an amniotic fluid sample obtained from a genetic amniocentesis. Karyotyping and cytogenetic tests were performed in 15 of the investigated cases. Karyotyping gave normal results in three cases (46,XX or XY). In one of these cases, postnatally chromosomal microarray (CMA) was later performed, which confirmed Aicardi syndrome (3q21.3-21.1 microdeletion). In one case, postnatally, the test found Wiedemann-Rautenstrauch syndrome. In other cases, it found X ring, Di George syndrome, 46,XY,del(13q)(q13q22) and 46,XX,del(5p)(p13) (Cri-du-chat syndrome). Edwards syndrome was diagnosed in six cases, and Patau syndrome in one case.
CONCLUSIONS: We found that corpus callosum abnormalities are often linked to chromosomal problems. We recommend that a cytogenetic test be performed in all cases to rule out inherited diseases. Also, the long-term outcome does not just depend on the disease\'s severity and the associated other conditions, and hence proper follow-up and early development are also key. For this reason, close teamwork between neonatology, developmental neurology, and pediatric surgery is vital.
摘要：
背景：call体是大脑的五个主要合缝之一。这是结合感觉和运动功能的关键。其结构可以是病理性的（发育不良）或完全不存在（发育不良）。call体发育不全是一种罕见的疾病（1：4000活产），但它会有严重的精神影响。
方法：在我们的研究中，我们处理了64名孕妇的数据.2005年至2019年，他们参加了Semmelweis大学妇产科的产前诊断中心和遗传咨询。
结果：妊娠有以下结果：52次分娩结束，1在自然流产中，终止妊娠（TOP）病例11例（n=64）。影像学检查的平均检测时间为25.24孕周。在16个案例中，进行了产前磁共振成像(MRI).如果在第20周之前检测到异常，对从基因羊膜穿刺术获得的羊水样本进行了基因测试。在15例调查病例中进行了核型分析和细胞遗传学测试。3例（46，XX或XY）的核型分析结果正常。在其中一个案例中,随后进行了产后染色体微阵列（CMA），证实Aicardi综合征（3q21.3-21.1微缺失）。在一个案例中,出生后,测试发现Wiedemann-Rautenstrauch综合征.在其他情况下,它发现了X环,迪乔治综合征,46,XY,del(13q)(q13q22)和46，XX，del（5p）（p13）（Cri-du-chat综合征）。爱德华兹综合症被诊断为六例，和一个案例中的Patau综合征。
结论：我们发现call体异常通常与染色体问题有关。我们建议在所有情况下进行细胞遗传学测试，以排除遗传性疾病。此外，长期结果不只是取决于疾病的严重程度和相关的其他条件，因此，适当的后续行动和早期发展也是关键。出于这个原因,新生儿科之间紧密的团队合作，发育神经学,儿科手术至关重要。
方法：在我们的研究中，我们处理了64名孕妇的数据.2005年至2019年，他们参加了Semmelweis大学妇产科的产前诊断中心和遗传咨询。
结果：妊娠有以下结果：52次分娩结束，1在自然流产中，终止妊娠（TOP）病例11例（n=64）。影像学检查的平均检测时间为25.24孕周。在16个案例中，进行了产前磁共振成像(MRI).如果在第20周之前检测到异常，对从基因羊膜穿刺术获得的羊水样本进行了基因测试。在15例调查病例中进行了核型分析和细胞遗传学测试。3例（46，XX或XY）的核型分析结果正常。在其中一个案例中,随后进行了产后染色体微阵列（CMA），证实Aicardi综合征（3q21.3-21.1微缺失）。在一个案例中,出生后,测试发现Wiedemann-Rautenstrauch综合征.在其他情况下,它发现了X环,迪乔治综合征,46,XY,del(13q)(q13q22)和46，XX，del（5p）（p13）（Cri-du-chat综合征）。爱德华兹综合症被诊断为六例，和一个案例中的Patau综合征。
结论：我们发现call体异常通常与染色体问题有关。我们建议在所有情况下进行细胞遗传学测试，以排除遗传性疾病。此外，长期结果不只是取决于疾病的严重程度和相关的其他条件，因此，适当的后续行动和早期发展也是关键。出于这个原因,新生儿科之间紧密的团队合作，发育神经学,儿科手术至关重要。
