Case Presentation
The 39-year-old Caucasian woman presented to the clinic during the 34th week of her pregnancy. She was born with a complex set of conditions, including bladder exstrophy and abnormal external genitalia located at the front. Moreover, she had musculoskeletal pelvis abnormalities (pubic diastasis) and an abdominal wall defect (omphalocele). Following her birth, she underwent surgery involving cystectomy and continentanal urinary diversion. Her ureters were implanted into the rectum (Mainz Pouch II). Despite these medical issues, she reported being continent for both urine and faeces, with no history of kidney infections.
Her uterus and cervix appeared normal, and at the time of her visit, she had a closed abdominal wall with a vulva-like opening in the lower abdomen. She experienced regular menstruation and engaged in sexual intercourse. All other physical examinations, including the heart, lungs, and skeletal system, revealed normal findings. She had a regular job as a gas station sales attendant and smoked one cigarette daily. As a young girl, doctors informed her that pregnancy was unlikely. Thus, she foregoes contraception and never consults a gynaecologist.
Pregnancy
This pregnancy, discovered at 39 years old and not detected until after 20 weeks, prompted a referral to the tertiary care center at 34 weeks. Despite the fetus showing no anomalies and normal uterine and umbilical perfusions, it was growth-restricted. The fetus is estimated to be below the 3rd percentile. To enhance lung maturity, the patient received 2 × 12 mg betamethasone, and the plan was to extend the pregnancy until 36 weeks. A cesarean section via midline laparotomy in the upper abdomen, beyond the previous operation region. Thus, she was scheduled for delivery.
To ensure proper planning, an ultrasound displayed the uterine wall a few centimetres behind the abdominal wall, while magnetic resonance imaging (MRI) was conducted to locate the ureters precisely. Unfortunately, there were no records of the primary operations performed shortly after her birth 39 years ago. Due to her residence at a distance from our centre, doctors admitted her at 35 weeks in anticipation of delivery. During this period, her cervix protruded through the abdominal wall, though cervical length remained normal with no signs of infection.
Management: Bladder Exstrophy
Following hospitalization, the patient began exhibiting early signs of preeclampsia, characterized by elevated blood pressure peaking at 170/100, though lacking proteinuria or clinical symptoms. Additionally, doctors observed non-reassuring fetal heart rate tracings, featuring variable decelerations. Treatment commenced with methyldopa administered three times a day at 250 mg. Despite having no predisposing factors for preeclampsia other than nulliparity and advanced maternal age, the presence of fetal growth restriction hinted at potential placental dysfunction, even though uterine perfusion remained consistently normal.
At 35+2 weeks, doctors performed a cesarean section. The procedure went smoothly, revealing no major adhesions in the upper abdomen. The delivered preterm baby exhibited overall good health with a birth weight of 1490 g (below the 3rd percentile), Apgar scores of 8/10/10, and an umbilical cord artery pH of 7.21. Responding to the patient’s preference to forego further pregnancies, doctors conducted tubal ligation during the cesarean section. The postpartum period for the mother was uneventful, with blood pressure stabilizing under continuous methyldopa therapy. Doctors discharged patients six days post-cesarean and advised them to consult an internal medicine specialist for hypertension re-evaluation six weeks after delivery. During this time, uterine prolapse was still evident.
Doctors discharged the baby after spending 16 days in the intensive care unit. Due to the heightened risk of rectal carcinoma associated with continent anal urinary diversion, doctors counselled the mother to undergo regular coloscopies every five years, starting with an initial examination showing normal findings. As the patient resided approximately two hours from the perinatal centre, she preferred follow-up care closer to her home. Despite attempts to reach her for additional information, the patient had relocated and changed her contact details, resulting in the unavailability of further follow-up details for this case report.
Urinary Tract Anomalies: Bladder Exstrophy
Anomalies within the extrophy-epispadias complex encompass a broad range of intricate defects affecting the genitourinary tract, involving anomalies in the abdominal wall, pelvic floor, bony pelvis, and lower spine. These anomalies are categorized into three subtypes: epispadias, classical bladder extropy, and cloacal extrophy. There were frequent crossovers and associated anomalies. Complete epispadias is approximately one in 117,000 male live births and one in 484,000 female live births. Classical bladder extrophy occurs in one out of 10,000 to 50,000 births, affecting males roughly twice as often as females. Cloacal extropy, also known as the OEIS complex (omphalocele-exstrophy-imperforate anus-spinal dysraphism), is exceptionally rare, with one review identifying 112 cases out of 1202 patients with anomalies from the exstrophy-epispadias complex.
Children with these anomalies typically undergo multiple complex operations. Advances in operative techniques over the past decades have significantly improved outcomes. In addition to the traditional focus on achieving urinary continence, recent attention has shifted toward reproductive topics such as sexual health, contraception, and reproduction. With an increasing number of individuals with congenital anomalies entering adulthood and reproductive age, the continuation of medical care into adulthood becomes crucial, requiring necessary follow-up examinations and appropriate patient counselling.
We present the case of a 39-year-old woman with complex bladder extrophy. She underwent a cystectomy and continent anal urinary diversion shortly after birth. Surprisingly, she presented with an unexpected and unplanned second-trimester pregnancy, highlighting the importance of ongoing medical care and comprehensive patient counselling for adults with congenital anomalies.
Conclusion
As individuals with bladder extrophy and related anomalies enter adolescence and adulthood, it’s crucial to ensure ongoing medical follow-up, transitioning to adult surgery and gynaecology. This facilitates addressing unique aspects of sexual health, reproduction, contraception, and cancer screening. Unfortunately, in the case presented, the lack of a smooth transition in care led to an unexpected and complex pregnancy.
