Overview

About this study

The study aims are to develop a consent-based IRB proposal that will enroll newborns who have imperforate anus.  The proposal will include permission for chart review and database information storage, to develop a database that will include MRN, imperforate anus phenotype, information on other congenital malformations, syndromic diagnosis if available, demographic information, and to develop a biobank of DNA and white blood cell samples from infants with imperforate anus. If patients are undergoing a skin biopsy for a medically indicated reason, cells will be requested.

Imperforate Anus, also known as anal atresia, is a rare birth defect.  Unable to pass stool through the gastrointestinal tract, this condition can result in death of the newborn and emergency surgery is required once discovered.  More than two thirds of affected infants have other birth defects that include other parts of the gastrointestinal tract, airway, heart, skeleton, kidneys, eyes, or ears. The exact prevalence of imperforate anus in the newborn population is unknown. 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Participating Mayo Clinic locations

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