Abstract
BackgroundReproductive planning is an emerging concern for women with inherited metabolic disease (IMD). Anticipatory guidance on contraception is necessary to prevent unintended pregnancies in this population. Few resources exist to aid informed decision-making on contraceptive choice. A retrospective case–control study was performed to examine trends in reproductive planning for adolescent and adult women seen at the Children’s Hospital of Philadelphia (CHOP). Literature review on contraception and IMD was performed to assess global use.ResultsIn a cohort of 221 reproductive-aged female IMD patients, 29.4% reported routine contraceptive use. Anticipatory guidance on contraception was provided by metabolic physicians to 36.8% of patients during the study period. Contraception discussion was more likely to occur in women older than 21 years, who lived independently and were followed by gynecology. Women who received contraception counseling from their metabolic physician were 40-fold more likely to use regular contraception. Use of combined hormonal contraceptives was most commonly reported, but contraception choice varied by age and IMD.ConclusionMetabolic physicians are ideally suited to provide guidance on contraception to women with IMD. Reproductive planning should be addressed routinely using shared decision-making. Contraceptives should be selected for their efficacy, effects on metabolism, and likelihood of patient adherence.
Highlights
Reproductive planning is an emerging concern for women with inherited metabolic disease (IMD)
To empower metabolism-driven discussion of contraception, we summarize important aspects of counseling on contraception for women with IMD below
Use of contraception to prevent unintended pregnancy and catamenial exacerbation of symptoms is important for women with IMD
Summary
Reproductive planning is an emerging concern for women with inherited metabolic disease (IMD). Due to expanded newborn screening and medical advancements in care and diagnosis, people with inherited metabolic disorders (IMD) are surviving into adulthood with improved health. As these individuals age, there is a growing need for counseling on reproductive care [1, 2]. No centralized information on best practices for women with rare diseases, including IMD, exists. This study and review of the literature aims to examine trends in reproductive planning for women with IMD at one center and propose considerations for counseling on contraceptive selection
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