Obstetric care in women with genetic disorders. (July 2017)

• Record Type: Journal Article
• Authors: Chetty, Shilpa; Norton, Mary E.
• Is Part Of: Best practice & research. Volume 42(2017)
• Page Start: 86
• Page End: 99
• Publication Date: 2017-07
• Subjects: phenylketonuria -- Turner syndrome -- connective tissue disorder -- cystic fibrosis -- fatty oxidation disorders; Gynecology -- Periodicals; Obstetrics -- Periodicals; Genital Diseases, Female; Obstetrics; Gynecology; Obstetrics; Periodicals; 618.05
• DOI: 10.1016/j.bpobgyn.2017.03.006
• Languages: English
• ISSNs: 1521-6934

Abstract

Abstract : The management of pregnant women who are themselves affected with genetic diseases is an increasingly relevant and important issue. Improvements in early diagnosis and management of genetic disease, as well as advances in assisted reproductive technology have impacted pregnancy rates in a cohort of women who may not have otherwise been able to conceive. A multidisciplinary approach is key to the management of pregnant women with complex health conditions, including genetic diseases. Pertinent issues should be addressed in the preconception, antepartum, intrapartum and postpartum periods to optimize maternal and fetal health. Additionally, counseling regarding risk of inheritance in offspring and options for prenatal diagnosis should be reviewed if available. This reviews aims to help provide background and insight into the management strategies for various commonly encountered and complex genetic conditions in the setting of pregnancy Highlights: Phenylketonuria: Compliance prior to and during pregnancy can prevent PKU embryopathy. Acute fatty liver of pregnancy occurs with increased frequency when fetuses are affected with LCHAD. Women with Turner Syndrome should undergo comprehensive cardiac evaluation prior to conception. Aortic root size greater than 40 mm in women with Marfan Syndrome poses significant morbidity. Pregnancy outcomes vary significantly by subtype of Ehlers Danlos.