Significance of the ‘line sign’ in the diagnosis of congenital imperforate anus on prenatal ultrasound

Background The prenatal diagnosis of foetal imperforate anus is difficult. Most previous studies have been case reports. To provide useful information for diagnosing foetal imperforate anus, a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed in 19 cases of foetal imperforate anus from 2016 to 2019 at our prenatal diagnostic centre. The prenatal sonographic features and outcomes of each case were collected and evaluated. Result The anal sphincter of a normal foetus shows the ‘target sign’ on cross-sectional observation. Of the 19 cases of imperforate anus, 16 cases were diagnosed by the ultrasound image feature called the ‘line sign’. 1 case with tail degeneration was low type imperforate anus with the irregular ‘target sign’ not a real ‘target sign’. There was two false-negative case, in which the ‘target sign’ was found, but irregular. Conclusion In this study, we find that the anus of a foetus with imperforate anus presents a ‘line sign’ on sonographic observation. The absence of the ‘target sign’ and then the presence of the ‘line sign’ can assist in the diagnosis of imperforate anus. The ‘line sign’ can be used as a secondary assessment to determine the type of the malformation following non visualization of the ‘target sign’. The higher the position of the imperforate anus is, the more obvious the ‘line sign’. It is worth noting that the finding of the short ‘line sign’ and irregularr ‘target sign’ can not ignore the low type imperforate anus.

Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus

Background Anorectal malformations (ARM) represent a wide spectrum of defects. Caudal and genitourinary malformations can associate with anorectal malformations. Genetic factors may play role in the development of anorectal malformations. Perineal masses like sacrococcygeal teratoma, rectal prolapse, or duplication cysts were reported before, but their association with perineal hamartoma and anal atresia is extremely rare. Case presentation Here, we report an 11-month-old female infant. She had 551 kb duplication at 7p12.3 with perineal hamartoma and anal atresia consisting a cystic lesion with a diameter of 4 mm at the filum terminale (L2 vertebra) on lumbar magnetic resonance imaging (MRI) in neonatal period. She presented with hypotonia. She had anorectal anomaly and external perineal mass bulging from left major labium extending across anal region with imperforate anus. There was 1 × 1 cm polyp-like protrusion on it. She was operated in neonatal period. Genetic laboratory investigations showed karyotype 46, XX. The microduplication of the chromosome 7p12.3 was detected by microarray analysis. There were not any significant homozygous or heterozygous variants determined by whole-exome sequencing. Conclusions To the best of our knowledge, this is the first report of a patient with a microduplication of the chromosome 7p12.3, and second case with perineal hamartoma and imperforate anus. Clinicians should pay attention to microdeletions and microduplications while giving genetic counseling to patients with urogenital and anorectal abnormalities.