Division of Human Genetics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
Orphanet J Rare Dis. 2022 Feb 8;17(1):41. doi: 10.1186/s13023-022-02188-x.
Reproductive 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.
In 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.
Metabolic 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.
生殖规划是遗传性代谢疾病(IMD)女性关注的新兴问题。为了防止该人群意外怀孕,有必要对避孕进行预期指导。很少有资源可以帮助人们就避孕方法做出明智的选择。本研究通过回顾性病例对照研究,调查了在费城儿童医院(CHOP)就诊的青少年和成年 IMD 女性的生殖规划趋势。对避孕和 IMD 的文献进行了综述,以评估全球的使用情况。
在 221 名生育年龄的 IMD 女性患者中,29.4%报告常规使用避孕措施。在研究期间,代谢科医生为 36.8%的患者提供了避孕指导。在 21 岁以上、独立生活且由妇科医生随访的女性中,更有可能进行避孕讨论。接受代谢科医生避孕咨询的女性使用常规避孕的可能性是未接受咨询者的 40 倍。最常报告使用复方激素避孕药,但避孕方法的选择因年龄和 IMD 而异。
代谢科医生是为 IMD 女性提供避孕指导的理想人选。应使用共同决策的方法来定期进行生殖规划。应根据其疗效、对代谢的影响以及患者的依从性来选择避孕药具。