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Prenatal diagnosis of VACTERL association in the first trimester

A 34‐year‐old woman (gravida 3, para 1) underwent a nuchal translucency scan at 12 weeks' gestation. Ultrasound showed a cystic mass at the fetal lower abdomen with a punctate hyperechoic area (Figure 1A,B) and “linear hyperechoic” sign at the perineum and anus (Figure 1C). Hemivertebrae (Figure 1D), a “fine finger‐like” bulge at the sacrococcyx (Figure 1E), a right dysplastic foot (Figure 1F), and a right single umbilical artery were observed. At 15 weeks' gestation, the abnormalities were more obvious, but the mass had disappeared. Overall, ultrasonography suggested fetal VACTERL association accompanied by closed spina bifida. An autopsy confirmed the diagnosis (Figure 2). Whole‐exome sequencing was normal female. VACTERL association is sporadic with relatively low recurrence risk. Both environmental and genetic risk factors are involved. Because of poor prognosis, we emphasize the importance of recognizing VACTERL association in the first trimester.