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Abstract：
BACKGROUND: Scoliosis can be detected on prenatal ultrasonography and may be associated with structural and syndromic abnormalities. Associations and pregnancy outcomes related to the prenatal diagnosis of scoliosis are poorly understood.
METHODS: A retrospective cohort study was undertaken at a tertiary referral center in London. Referred cases with spinal deformities between 1997 and 2021 were identified from the prenatal ultrasonography database. Outcomes were ascertained from the database and electronic notes.
RESULTS: One hundred twenty-three cases of fetal spinal deformities (scoliosis, kyphosis, or kyphoscoliosis) were identified from a referral population of 660,000 pregnancies, giving an incidence of approximately 0.2 per 1000 fetuses. Fifty-eight live births (47.2%) and 65 cases (52.8%) of fetal or neonatal demise or termination were observed. Most live births were isolated spinal deformities with a good postnatal outcome (n = 35, 60.3%). The commonest syndromic diagnosis in this group was VACTERL association (n = 7, 12.1%). Most cases of fetal loss were associated with severe malformations, most commonly spina bifida, body stalk anomaly and amniotic band sequence, or chromosomal abnormalities, except in 2 cases (3.1%).
CONCLUSIONS: This is the largest reported cases series to date of prenatally diagnosed fetal spinal deformity. This confirms that fetal scoliosis and associated vertebral abnormalities are underdiagnosed prenatally, with the reported incidence (0.2 per 1000) lower than the recognized incidence of congenital scoliosis (1 in 1,000). The concurrent finding of severe malformations was strongly associated with fetal loss. When an isolated finding, most fetal spinal deformities had a good postnatal outcome, while 1:8 live births were diagnosed with VACTERL association.
METHODS: A retrospective cohort study was undertaken at a tertiary referral center in London. Referred cases with spinal deformities between 1997 and 2021 were identified from the prenatal ultrasonography database. Outcomes were ascertained from the database and electronic notes.
RESULTS: One hundred twenty-three cases of fetal spinal deformities (scoliosis, kyphosis, or kyphoscoliosis) were identified from a referral population of 660,000 pregnancies, giving an incidence of approximately 0.2 per 1000 fetuses. Fifty-eight live births (47.2%) and 65 cases (52.8%) of fetal or neonatal demise or termination were observed. Most live births were isolated spinal deformities with a good postnatal outcome (n = 35, 60.3%). The commonest syndromic diagnosis in this group was VACTERL association (n = 7, 12.1%). Most cases of fetal loss were associated with severe malformations, most commonly spina bifida, body stalk anomaly and amniotic band sequence, or chromosomal abnormalities, except in 2 cases (3.1%).
CONCLUSIONS: This is the largest reported cases series to date of prenatally diagnosed fetal spinal deformity. This confirms that fetal scoliosis and associated vertebral abnormalities are underdiagnosed prenatally, with the reported incidence (0.2 per 1000) lower than the recognized incidence of congenital scoliosis (1 in 1,000). The concurrent finding of severe malformations was strongly associated with fetal loss. When an isolated finding, most fetal spinal deformities had a good postnatal outcome, while 1:8 live births were diagnosed with VACTERL association.
摘要：
背景：脊柱侧凸可以在产前超声检查中检测到，并且可能与结构和综合征异常有关。与脊柱侧凸的产前诊断相关的关联和妊娠结局知之甚少。
方法：在伦敦的三级转诊中心进行了一项回顾性队列研究。从产前超声检查数据库中确定了1997年至2021年之间的脊柱畸形病例。结果是从数据库和电子笔记中确定的。
结果：123例胎儿脊柱畸形（脊柱侧凸，后凸畸形,或脊柱侧后凸）是从660,000例妊娠的转诊人群中确定的，每1000个胎儿的发病率约为0.2。观察到58例活产（47.2％）和65例（52.8％）胎儿或新生儿死亡或终止。大多数活产是孤立的脊柱畸形，具有良好的产后结局（n=35，60.3％）。该组中最常见的综合征诊断为VACTERL相关性（n=7，12.1%）。大多数胎儿丢失病例与严重畸形有关，最常见的是脊柱裂,体柄异常和羊膜带序列，或者染色体异常,除了2例(3.1%)。
结论：这是迄今为止最大的产前诊断胎儿脊柱畸形病例系列报告。这证实了胎儿脊柱侧凸和相关的椎体异常在产前诊断不足，报告的发病率（0.2/1000）低于公认的先天性脊柱侧凸发病率（1,000）。同时发现严重畸形与胎儿丢失密切相关。当一个孤立的发现，大多数胎儿脊柱畸形具有良好的产后结局，而1:8的活产婴儿被诊断为VACTERL关联。
方法：在伦敦的三级转诊中心进行了一项回顾性队列研究。从产前超声检查数据库中确定了1997年至2021年之间的脊柱畸形病例。结果是从数据库和电子笔记中确定的。
结果：123例胎儿脊柱畸形（脊柱侧凸，后凸畸形,或脊柱侧后凸）是从660,000例妊娠的转诊人群中确定的，每1000个胎儿的发病率约为0.2。观察到58例活产（47.2％）和65例（52.8％）胎儿或新生儿死亡或终止。大多数活产是孤立的脊柱畸形，具有良好的产后结局（n=35，60.3％）。该组中最常见的综合征诊断为VACTERL相关性（n=7，12.1%）。大多数胎儿丢失病例与严重畸形有关，最常见的是脊柱裂,体柄异常和羊膜带序列，或者染色体异常,除了2例(3.1%)。
结论：这是迄今为止最大的产前诊断胎儿脊柱畸形病例系列报告。这证实了胎儿脊柱侧凸和相关的椎体异常在产前诊断不足，报告的发病率（0.2/1000）低于公认的先天性脊柱侧凸发病率（1,000）。同时发现严重畸形与胎儿丢失密切相关。当一个孤立的发现，大多数胎儿脊柱畸形具有良好的产后结局，而1:8的活产婴儿被诊断为VACTERL关联。
