Advanced Fetal Care Center, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.
Prenat Diagn. 2013 Feb;33(2):134-40. doi: 10.1002/pd.4021. Epub 2012 Dec 17.
There are over 30 cases of prenatally diagnosed sacral extensions or human 'tails' in the literature, including isolated and syndromic etiologies. Most cases were reported to resolve by the second trimester and postnatal course was benign. Our objective was to describe the prenatal findings, associated anomalies, and clinical outcome of a series of seven fetuses diagnosed prenatally with fetal sacrococcygeal extension.
In a prospective study on a series of 4040 consecutive patients seen through our clinic in a 10-year period, 7 patients had a sacrococcygeal extension identified on fetal imaging. Fetal sonographic and magnetic resonance imaging findings, results of genetic testing, and clinical outcomes were analyzed.
All seven fetuses had associated anomalies, including neurologic, craniofacial, cardiac, spinal, renal, and musculoskeletal abnormalities, or abnormal ultrasound findings including growth restriction and abnormal umbilical cord Doppler. There were two cases of trisomy 13 and one case of Pfeiffer syndrome. The mean gestational age at diagnosis was 19.3 weeks.
When a sacrococcygeal extension is seen on fetal imaging, work-up should include detailed fetal imaging and karyotype, and fetal growth should be monitored. Our experience with fetal sacrococcygeal extension demonstrates variability in the underlying presentation and etiology, making counseling in a prenatal setting challenging.
文献中已有超过 30 例产前诊断的骶骨延伸或人类“尾巴”病例，包括孤立性和综合征性病因。大多数病例在第二个三个月时得到解决，且产后过程是良性的。我们的目的是描述一系列 7 例胎儿的产前发现、相关异常和临床结局，这些胎儿在产前被诊断为胎儿骶尾部延伸。
在一项对我们诊所 10 年间连续 4040 例患者进行的前瞻性研究中，有 7 例胎儿在胎儿影像学检查中发现骶尾部延伸。分析了胎儿超声和磁共振成像发现、遗传检测结果和临床结局。
所有 7 例胎儿均存在相关异常，包括神经、颅面、心脏、脊柱、肾脏和肌肉骨骼异常，或异常超声发现，包括生长受限和脐带多普勒异常。有 2 例唐氏综合征 13 三体和 1 例 Pfeiffer 综合征。诊断时的平均孕龄为 19.3 周。
当在胎儿影像学检查中发现骶尾部延伸时，应进行详细的胎儿影像学检查和染色体核型分析，并监测胎儿生长情况。我们对胎儿骶尾部延伸的经验表明，其潜在表现和病因存在多样性，使得在产前进行咨询具有挑战性。
