A full-term female newborn with a birth weight (BW) of 3440 g was born at 39 weeks of gestation via cesarean section (CS) for breech presentation from a 37-year-old mother Gravida 3 Para 3 (G3P3); Apgar score was 6 and 10 at 1st and 5th minute of life, respectively. Baby was apneic at birth and received five inflation breaths, followed by good response with vigorous crying, good muscle tone and heart rate. The pregnancy was uneventful apart from a single echogenic intracardiac focus that was detected on the second trimester anatomy scan and was confirmed, both by fetal echocardiography (ECHO) at 22+6 weeks and a post-natal follow-up ECHO at 40 days of life, with no other abnormal findings. On the first physical examination, a midline defect was noticed on the newborn’s perineum, which formed an erythematous sulcus resembling a rupture that expanded about 1 cm from the posterior vaginal fourchette to the 12 o’clock position of the anterior anal opening. Both external genitalia and the anal orifice were intact and normally positioned. No active blood or passage of meconium via the vaginal opening was observed. The obstetrician placed four absorbable sutures in the malformed perineum, as he thought the defect represented tear of the area, and the newborn was transferred to the neonatal unit for prompt pediatric surgical evaluation. Frequent and meticulous hygiene of the affected area was maintained and a course of intravenous antibiotics was administered. The newborn remained stable throughout hospitalization with no evidence of infection. Parents refused to attend follow-up outpatient clinic (neonatal and pediatric consultation), and therefore we followed-up the case by frequent phone interviews; according to information provided by them, the infant had a full cicatrization of the perineal defect, with no defecation issues or local infection incidences.
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.