Fertility Concerns, Quality of Life and Pregnancy Outcomes in Female Patients With Anorectal Malformations

Background: anorectal malformations, Müllerian anomalies and fertility concerns in females

Congenital anorectal malformations vary in severity and complexity and are associated with other congenital malformations. Females with anorectal malformations have a higher incidence of Müllerian anomalies. This is caused when one of the two Müllerian ducts do not fully develop, resulting in a malformation of the uterus or vagina.

• ~1 of every 5,000 babies is born with an anorectal malformation
• 3-5% of all females are born with a Müllerian anomaly
  • More common in patients with anorectal malformations
  • Occur in up to 60% of patients with cloaca

A previous study by researchers in the International Center for Colorectal and Urogenital Care at Children’s Hospital Colorado found uterine and vaginal duplication occurs in up to 60 percent of patients with cloacal anomalies, which can necessitate early surgical intervention.

Findings from other, past studies on how anorectal malformations may impact fertility include:

• Most spontaneous conceptions and pregnancy resulted in cesarean section delivery
• Lower childbirth rate in females with more complex anorectal malformations compared to healthy references or less complex anorectal malformations
• No pregnancies in patients with anorectal malformations and partial vaginal replacement with bowel

Factors that may impair fertility in patients with anorectal malformations:

• Complexity of anomaly
  • Complex malformations may require assisted reproduction, alternative family building (especially partial neovagina replacement with bowel)
• Extent of surgical history
• Other comorbidities
• Associated Müllerian anomalies

Research has demonstrated female infertility impairs quality of life, but there is a lack of outcome data on fertility concerns and effect on quality of life for patients with anorectal malformations.

A prior study found a higher risk of anxiety and depression female patients who have undergone surgical correction of a congenital colorectal condition. This led a multidisciplinary team of researchers from the International Center for Colorectal and Urogenital Care at Children’s Colorado to hypothesize patients with anorectal malformations and fertility concerns may have impaired quality of life.

In this study, researchers sought to:

• Report fertility concerns
• Compare fertility quality of life scores to published reference scores
• Describe pregnancy outcomes in female patients with anorectal malformations

Methods: surveys on fertility concerns in patients with anorectal malformations

A cross-sectional study of patients 18 to 80 years old assigned female at birth in the center’s Adult Colorectal Research Registry:

• Anorectal malformation with perineal, vestibular or vaginal fistula
• Cloaca and complex anorectal malformation

Participants included in the study completed REDCap questionnaires between November 2021 and August 2022:

• Reproductive health surveys
  • Fertility concerns
  • Fertility problems
• Fertility Quality of Life survey
  • Internationally validated
  • 36 question assessment
    • Core quality of life
    • Treatment-related quality of life
    • Overall quality of life and physical health
  • Questions rated 0 to 4
    • Higher scores indicate better quality of life

Other data collected:

• Basic demographics
• Diagnosis of malformation
• Operative treatment
• Gynecological and obstetrical history

Results: demographic and anorectal malformation diagnosis data for study participants

Of the 97 females invited to participate in the study, 78 responded (80.4%).

Demographics

• 64 patients met inclusion criteria
  • 62 identified as female
  • 2 identified as non-binary
• 22 to 80 years old
  • 32 years median age

Diagnosis

• 62.5% with cloaca diagnosis
  • 39 cloaca
  • 1 posterior cloaca
• 29.7% with other anorectal malformations
  • 3 recto-perineal
  • 14 recto-vestibular
  • 1 recto-vaginal or no fistula
• 7.8% with complex malformations
  • 1 each:
    • Cloacal exstrophy
    • Covered cloacal exstrophy
    • Cloacal exstrophy variant
    • Complex anorectal malformation
    • Complex anorectal malformation with duplication of the pelvis and external genitalia

Fertility concerns, outcomes for female patients with anorectal malformations

Among the 64 study participants, 40.6% (26) reported concerns about fertility.

• 31 years median age
• Majority (21) born with cloaca

38 patients have not tried to conceive

• 26.6% had fertility concerns

26 patients have tried to conceive

• 34.6% successful
  • 5% had fertility concerns
• 6.3% unsuccessful
  • 1.6% had fertility concerns

Fertility problems 16 participants (25%) reported fertility problems, including:

• 11 with Müllerian abnormalities
• 6 with blocked or damaged tubes
• 2 with ovulation problems
• 2 diminished ovarian reserve
• 2 with unexplained infertility

None of the patients who had no fertility concerns reported fertility problems, yet four had a hysterectomy or resection of Müllerian structures with or without oophorectomy.

Pregnancy outcomes

Forty percent of study participants tried to conceive. Of those:

• 34% of pregnancies ended in miscarriage or delivery
  • 18 females with 26 pregnancies and 28 live births
    • 1.6 child/patient ratio
  • 11 females with 18 pregnancies resulting in miscarriage
    • 1.6 miscarriage/patient ratio
  • Patients with fertility concerns, compared to those without, had:
    • Higher child/patient ratio
    • Lower miscarriage/woman ratio
  • 6 females underwent assisted reproductive technologies
  • 92% of patients delivered via cesarean section
    • 23 had history or anorectal malformations
    • 6 had malposition of the fetus
    • 1 had fetal distress
    • 1 had extensive urologic surgical history
  • 2 patients were missing mode of delivery data
  • 15 pregnancies born to term
  • 7 pregnancies were preterm (33 to 36 weeks gestational age)
  • 4 patients were missing gestational age data

Fertility quality of life in female patients with anorectal malformations and fertility concerns

Females who reported fertility concerns completed the Fertility Quality of Life assessment.

Results were compared to published reference scores for female and male patients actively seeking treatment at a fertility clinic:

• Study patients with cloaca, anorectal malformation and complex malformation had significantly higher scores (better quality of life) than reference population
• No statistically significant difference in impact of fertility issues on interpersonal interactions
• The three study patients who underwent fertility treatment scored lower than reference population

Discussion and conclusion: patients with anorectal malformations to receive counseling for fertility concerns

Forty percent of study participants reported fertility concerns, less than half were seen by a fertility specialist, and approximately 9% underwent fertility treatment.

Findings consistent with prior research:

• Patients with anorectal malformations can achieve pregnancy
• Assisted reproduction or alternative family building may be needed for complex anomalies
• Almost all patients delivered by cesarean-section

Study authors noted:

• Patients and families should receive proactive and specialized counseling about the impact of diagnosis, treatment and associated anomalies on fertility.
• The Fertility Quality of Life assessment, developed for patients seeking fertility treatment, was administered to all patients with fertility concerns, including those with and without problems seeking treatment.
  • Differences among the study cohort and reference population could be reason for higher scores, which are associated with secondary fertility
  • Additional research is needed

Early intervention to optimize and preserve fertility should be explored.