A full-term female neonate with a BW of 3500 g was born at 39+4 weeks of gestation by vacuum-assisted vaginal delivery, due to nuchal cord, from a 31-year-old mother G1P1; Apgar score was 8 and 9 at the 1st and 5th minute, respectively. The pregnancy was uneventful apart from repeated detection of positive IgM antibodies for cytomegalovirus (CMV) from 12 weeks onwards. The neonate had a normal cranial ultrasound on the 2nd day of life and urine PCR (polymerase chain reaction) for CMV was negative. At birth, the presence of a mucous membrane in the midline of perineum from the posterior vaginal fourchette to the anterior anal orifice was noted. Pediatric surgical consultation confirmed the diagnosis of perineal groove. As the streak appearance of the anal canal was missing at the 12 o’clock position due to the presence of mucosa, anal stimulation was performed, showing a concentric contraction of the anal sphincter which was intact. The vaginal opening was also normal with no fistulae ( and ). The neonate was discharged on the 5th day of life with a plan for surgical correction of the malformation if hemorrhage or injury occurred.
A full-term female newborn with a BW of 3540 g was born at 39 weeks of gestation via CS for breech presentation from a 35-year-old mother G1P1; Apgar score was 9 and 10 at 1st and 5th minute, respectively. On the ultrasound of the second trimester’s anatomy scan, mildly dilated lateral ventricles were detected, a finding that was confirmed by a cranial ultrasound on the 4th day of life. The first physical examination revealed a mildly erythematous sulcus extending from the posterior vaginal fourchette to the anterior anal orifice (). The diagnosis of perineal groove was confirmed by a Pediatric Surgeon. Since no other anorectal or genital anomalies were present and the baby passed stools normally, the perineal defect was simply observed and remained stable throughout the neonate’s 5-day hospitalization. Mild improvement in the epithelization of the area was already evident at discharge ().