Abstract：
OBJECTIVE: To study the outcomes of fetuses who were diagnosed with central nervous system (CNS) anomalies during prenatal period and to describe the obstetric management of those pregnancies.
METHODS: In this retrospective study, fetuses who were detected to have central nervous system anomalies by prenatal ultrasound from January 2010 to December 2019 were recruited. Data regarding prenatal diagnosis and obstetric outcomes were retrieved from maternal and paediatric records. The prognosis of fetuses who were born alive was classified based on their neurodevelopmental outcome within two years of life.
RESULTS: There were a total of 365 fetuses with CNS anomalies within the 10-year study period, with a mean gestational age of 24.65±7.37 weeks at diagnosis. Ventriculomegaly (23.36%) was the commonest CNS anomalies seen. 198 (54.20%) of these fetuses had associated extra-CNS anomalies, with cardiovascular being the most common system involved. Fetal karyotyping was performed in 111 pregnancies, with chromosomal aberrations detected in 53 (49.07%) cases and culture failure in 3 cases. Majority of the chromosomal abnormalities were Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13). Fetuses with congenital CNS anomalies and abnormal chromosomal karyotyping were more likely to be diagnosed earlier by prenatal ultrasound and tend to have poorer obstetric and neurocognitive prognosis. Prenatally, 86 (23.56%) of the cases were lost to follow up and likely to deliver elsewhere. Among the 279 cases whom their pregnancy outcomes were available, 139 (49.82%) pregnancies resulted in live births, 105 (37.63%) pregnancies were electively terminated, while the remaining 35 (12.54%) pregnancies ended in spontaneous loss. The decision of termination of pregnancy largely depends on mean diagnostic gestational age, presence of chromosomal aberrations and abnormal amniotic fluid volume in those fetuses. Two years after delivery, only 75 (53.96%) children out of 139 live births were still alive, 43 (30.93%) died and 21 (15.11%) cases were lost to follow-up. 32 (23.02%) children with prenatally diagnosed CNS anomalies had normal neurodevelopmental outcome. The presence of multiple CNS anomalies and involvement of extra-CNS anomalies indicated a poorer neurodevelopmental prognosis.
CONCLUSIONS: Less than 50% of fetuses with prenatally diagnosed CNS anomalies resulted in live births. Even if they survive till delivery, 36.45% of them passed away within 2 years and 62.79% of children who survived till 2 years old had neurodevelopmental disability.
METHODS: In this retrospective study, fetuses who were detected to have central nervous system anomalies by prenatal ultrasound from January 2010 to December 2019 were recruited. Data regarding prenatal diagnosis and obstetric outcomes were retrieved from maternal and paediatric records. The prognosis of fetuses who were born alive was classified based on their neurodevelopmental outcome within two years of life.
RESULTS: There were a total of 365 fetuses with CNS anomalies within the 10-year study period, with a mean gestational age of 24.65±7.37 weeks at diagnosis. Ventriculomegaly (23.36%) was the commonest CNS anomalies seen. 198 (54.20%) of these fetuses had associated extra-CNS anomalies, with cardiovascular being the most common system involved. Fetal karyotyping was performed in 111 pregnancies, with chromosomal aberrations detected in 53 (49.07%) cases and culture failure in 3 cases. Majority of the chromosomal abnormalities were Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13). Fetuses with congenital CNS anomalies and abnormal chromosomal karyotyping were more likely to be diagnosed earlier by prenatal ultrasound and tend to have poorer obstetric and neurocognitive prognosis. Prenatally, 86 (23.56%) of the cases were lost to follow up and likely to deliver elsewhere. Among the 279 cases whom their pregnancy outcomes were available, 139 (49.82%) pregnancies resulted in live births, 105 (37.63%) pregnancies were electively terminated, while the remaining 35 (12.54%) pregnancies ended in spontaneous loss. The decision of termination of pregnancy largely depends on mean diagnostic gestational age, presence of chromosomal aberrations and abnormal amniotic fluid volume in those fetuses. Two years after delivery, only 75 (53.96%) children out of 139 live births were still alive, 43 (30.93%) died and 21 (15.11%) cases were lost to follow-up. 32 (23.02%) children with prenatally diagnosed CNS anomalies had normal neurodevelopmental outcome. The presence of multiple CNS anomalies and involvement of extra-CNS anomalies indicated a poorer neurodevelopmental prognosis.
CONCLUSIONS: Less than 50% of fetuses with prenatally diagnosed CNS anomalies resulted in live births. Even if they survive till delivery, 36.45% of them passed away within 2 years and 62.79% of children who survived till 2 years old had neurodevelopmental disability.
摘要：
目的：研究产前诊断为中枢神经系统（CNS）异常的胎儿的结局，并描述这些妊娠的产科管理。
方法：在这项回顾性研究中，我们招募了2010年1月至2019年12月产前超声检查发现中枢神经系统异常的胎儿.从孕产妇和儿科记录中检索有关产前诊断和产科结局的数据。活着出生的胎儿的预后根据其在两年内的神经发育结果进行分类。
结果：在10年的研究期内，共有365例胎儿出现中枢神经系统异常，诊断时的平均胎龄为24.65±7.37周。脑室肿大（23.36％）是最常见的CNS异常。198（54.20%）这些胎儿有相关的中枢神经系统外异常，心血管是最常见的系统。在111例妊娠中进行了胎儿核型分析，染色体畸变53例(49.07%)，培养失败3例。大多数染色体异常是Edward综合征（18三体）和Patau综合征（13三体）。先天性中枢神经系统异常和染色体核型异常的胎儿更有可能通过产前超声早期诊断，并且往往具有较差的产科和神经认知预后。婚前,86例(23.56%)病例失去随访，可能在其他地方交付。在279例妊娠结局可用的病例中，139例（49.82%）怀孕导致活产，105例（37.63%）妊娠被选择性终止，而其余35例（12.54％）妊娠以自发流产告终。终止妊娠的决定在很大程度上取决于平均诊断胎龄，这些胎儿中存在染色体畸变和羊水量异常。交货两年后，139名活产婴儿中只有75名(53.96%)儿童还活着，43例（30.93%）死亡，21例（15.11%）失访。32例（23.02％）产前诊断为中枢神经系统异常的儿童神经发育正常。多种中枢神经系统异常的存在和中枢神经系统外异常的参与表明神经发育预后较差。
结论：少于50%的产前诊断为中枢神经系统异常的胎儿导致活产。即使它们存活到分娩，其中36.45％的人在2年内去世，存活到2岁的儿童中有62.79％的人患有神经发育障碍。
方法：在这项回顾性研究中，我们招募了2010年1月至2019年12月产前超声检查发现中枢神经系统异常的胎儿.从孕产妇和儿科记录中检索有关产前诊断和产科结局的数据。活着出生的胎儿的预后根据其在两年内的神经发育结果进行分类。
结果：在10年的研究期内，共有365例胎儿出现中枢神经系统异常，诊断时的平均胎龄为24.65±7.37周。脑室肿大（23.36％）是最常见的CNS异常。198（54.20%）这些胎儿有相关的中枢神经系统外异常，心血管是最常见的系统。在111例妊娠中进行了胎儿核型分析，染色体畸变53例(49.07%)，培养失败3例。大多数染色体异常是Edward综合征（18三体）和Patau综合征（13三体）。先天性中枢神经系统异常和染色体核型异常的胎儿更有可能通过产前超声早期诊断，并且往往具有较差的产科和神经认知预后。婚前,86例(23.56%)病例失去随访，可能在其他地方交付。在279例妊娠结局可用的病例中，139例（49.82%）怀孕导致活产，105例（37.63%）妊娠被选择性终止，而其余35例（12.54％）妊娠以自发流产告终。终止妊娠的决定在很大程度上取决于平均诊断胎龄，这些胎儿中存在染色体畸变和羊水量异常。交货两年后，139名活产婴儿中只有75名(53.96%)儿童还活着，43例（30.93%）死亡，21例（15.11%）失访。32例（23.02％）产前诊断为中枢神经系统异常的儿童神经发育正常。多种中枢神经系统异常的存在和中枢神经系统外异常的参与表明神经发育预后较差。
结论：少于50%的产前诊断为中枢神经系统异常的胎儿导致活产。即使它们存活到分娩，其中36.45％的人在2年内去世，存活到2岁的儿童中有62.79％的人患有神经发育障碍。
