From the Department of Trauma and Orthopaedic Surgery, (Mr. Walters, Mr. Barkham, Mr. Bishop, Mr. Bernard, Mr. Lui), and the Fetal Medicine Unit (Ms. Coroyannakis, Prof. Thilaganathan), St. George's University Hospital, London, United Kingdom.
J Am Acad Orthop Surg Glob Res Rev. 2024 May 28;8(6). doi: 10.5435/JAAOSGlobal-D-24-00093. eCollection 2024 Jun 1.
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.
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.
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%).
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.
脊柱侧凸可在产前超声检查中发现，可能与结构和综合征异常有关。与产前诊断脊柱侧凸相关的关联和妊娠结局知之甚少。
在伦敦的一家三级转诊中心进行了回顾性队列研究。从 1997 年至 2021 年的产前超声数据库中确定了患有脊柱畸形的转诊病例。从数据库和电子病历中确定了结局。
从 660,000 例妊娠的转诊人群中发现了 123 例胎儿脊柱畸形（脊柱侧凸、后凸或脊柱后凸侧凸），发病率约为每 1000 例胎儿 0.2 例。观察到 58 例活产（47.2%）和 65 例胎儿或新生儿死亡或终止妊娠（52.8%）。大多数活产为孤立性脊柱畸形，具有良好的产后结局（n=35，60.3%）。该组最常见的综合征诊断为 VACTERL 协会（n=7，12.1%）。大多数胎儿丢失病例与严重畸形相关，最常见的是脊柱裂、体干异常和羊膜带序列或染色体异常，但有 2 例（3.1%）除外。
这是迄今为止报道的最大的产前诊断胎儿脊柱畸形病例系列。这证实了胎儿脊柱侧凸和相关椎体异常在产前被低估，报告的发病率（每 1000 例 0.2 例）低于公认的先天性脊柱侧凸发病率（1/1000）。严重畸形的同时发现与胎儿丢失密切相关。当为孤立性发现时，大多数胎儿脊柱畸形具有良好的产后结局，而 1/8 的活产被诊断为 VACTERL 协会。
