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.
This infant was born to Asian parents. The baby's mother was a 34-year-old woman, and her father was a 32-year-old man. The mother was gravida 2 and para 1 (G2P1) with good prenatal care. Their first baby was induced owing to intrauterine fetal death, and the details were unknown. There was no family history of congenital abnormalities on either side of the family, and the parents were not consanguineous. The mother also had no history of tobacco, alcohol, or substance abuse. The mother's antenatal examination was uneventful except for gestational diabetes. During pregnancy, the mother's blood glucose was maintained between 6.1 mmol/l and 8.1 mmol/l without any drug treatment. The infant's gestational age was 37 weeks and 3 days. The newborn was delivered by vaginal delivery and her birth weight (BW) was 4910 g. Apgar scores were 6 and 8 at 1 and 5 min, respectively. Owing to dyspnea 2 h after the birth, the neonate also received further examination in the NICU. On examination, a perineal defect was noted. The groove extended vertically downward from the base of the vaginal fourchette to the anterior rim of the anus at the 12 o'clock position. The perineal groove was a moist red sulcus that was ~1 cm long, 0.1 cm wide and 0.1 cm deep. There were no signs of malformation, bleeding, fistula, secretions, or infection noted in the genital area (Figure ). During admission, the infant had normal excretory functions. Her vital signs were as follows: temperature of 36.5°C; heart rate of 110 beats/min; respiratory rate of 65 breaths/min; and blood pressure of 75/39 mmHg. The newborn was diagnosed with asphyxia neonatorum, neonatal wet lung disease, fetal macrosomia, cephalohematoma of newborn, PDA, myocardial injury, and congenital perineal groove and as a neonate of a diabetic mother after further examinations. This diagnosis of perineal groove was also based on clinical examination. The neonate was discharged home with her parents at 9 days of life when all her conditions improved. Both patients in case one and case two were advised to undergo follow-up examinations.