Gynecologic care in patients with anorectal malformations: A primer and call to action

Anorectal malformations (ARMs) represent a spectrum of gastrointestinal anomalies present at birth, ranging from perineal fistula to persistent cloaca.

In a perineal fistula, the rectum ends at an abnormal connection (fistula) that opens near the perineum instead of at a normal anal opening.

In persistent cloaca, the urinary tract, reproductive tract, and gastrointestinal tract fail to separate in the womb and merge into one single common channel.

During fetal development, the cloaca (lower intestines) and urogenital sinus (urinary and reproductive systems) develop in extremely close quarters, sharing the same microscopic real estate.

Because the GI and genitourinary systems share developmental origin, an anomaly in the gastrointestinal tract almost inherently means the genitourinary system might be atypical as well.

Gynecologic anomalies occur in 17% to 67% of all ARM cases.

In non-cloaca ARMs, Müllerian anomalies (anomalies of the uterus, fallopian tubes, and upper vagina) occur in about 7% to 35% of patients.

For patients with persistent cloaca, especially those with a common channel longer than 3 centimeters, up to 80% have co-occurring gynecologic anomalies.

VACTERL is an acronym for a non-random association of birth defects: vertebrae, anus, cardiovascular tree, trachea, esophagus, renal system, and limbs.

25% to 39% of patients with VACTERL also have a concomitant gynecologic anomaly.

There is a movement to update the VACTERL acronym to VACTERL-G, adding a G to represent the gynecologic component.

Historically, the reproductive system was pushed to the back burner during neonatal ARM surgery because it wasn't actively threatening the child's life, and was treated as a problem to address at puberty.

Gynecologic evaluation should not wait for puberty and needs to begin at the time of the initial ARM diagnosis.

Families desire to discuss long-term gynecologic anatomy and function immediately at the time of ARM diagnosis.

Peripuberty and the transition to adult care represent a crucial vulnerability period for ARM patients.

If a patient has an undiagnosed Müllerian anomaly such as a structural blockage in the reproductive tract or obstructed uterine horn and begins to menstruate, the menstrual blood has nowhere to go.

Retrograde menstruation, where menstrual fluid flows backward into the pelvic cavity, can cause excruciatingly painful menstruation, endometriosis, and scar tissue that impacts future fertility.

Because ARM patients' anatomy was surgically altered in infancy, standard gynecological exams might be physically impossible or incredibly traumatizing.

Surveys indicate that patients with ARMs routinely lack access to specialized gynecologic care as adults because it is not a major part of standard OBGYN training.

The PCPLC Gynecology Committee developed five consensus statements to bridge the communication void between pediatric surgeons and adult gynecologists.

The PCPLC created a standardized term dictionary (Appendix 1) and advocates utilizing the American Society of Reproductive Medicine (ASRM) Classification System for Müllerian Anomalies (Appendix 2).

There is a distinct lack of Level 1 and Level 2 evidence for gynecologic care in ARMs.

Level 1 and 2 evidence comes from massive randomized controlled trials, which cannot be ethically conducted on life-threatening birth defects in infants.

The medical community relies heavily on Level 3 evidence for ARMs, which consists of case series, retrospective reviews, and expert consensus, translating to Level B and C recommendations.

The only way to turn today's expert opinions into tomorrow's Level 1 evidence is through exhaustive long-term cross-institutional data repositories that track patients from infancy through reproductive years.