Genetic Disorders

Chromosomal Abnormalities


American College of Obstetricians and Gynecologists. (2019). Committee opinion No. 786: Perinatal palliative care. Obstetrics & Gynecology,134, 84-89. doi: 10.1097/AOG.0000000000003425


American College of Obstetricians and Gynecologists. (2019). Committee opinion No. 778: Newborn screening and the role of the obstetrician-gynecologist. Obstetrics & Gynecology, 133, 357-361. doi: 10.1097/AOG.0000000000003245


American College of Obstetricians and Gynecologists. (2019). Committee opinion No. 762: Prepregnancy counseling. Obstetrics & Gynecology, 133, 78-89. doi: 10.1097/AOG.0000000000003013


American Academy of Pediatrics and the American College of Obstetricians and Gynecologists. (Eds.). (2015). Guidelines for Perinatal Care. (8th ed.). American Academy of Pediatrics.


American Diabetes Association. (2020). Standards of medical care in diabetes. Diabetes Care, 43(1), S1-S206. https://care.diabetesjournals.org/content/43/Supplement_1


Centers for Disease Control and Prevention. (2015). Sexually transmitted diseases treatment guidelines. MMWR Recommendations and Reports, 64 (No. RR-3), 1-137. https://www.cdc.gov/std/tg2015/default.htm


Down Syndrome


Brewer, J., Demers, L., & Musci, T. (2017). Survey of obstetrician opinions regarding NIPT use in general practice. Obstetrics & Gynecology, 30(15), 1793-1796. doi: 10.1097/01.aog.0000483367.18745.de


Bull, M. J., and the AAP Committee on Genetics. (2011; reaffirmed 2018). Clinical Report—Health Supervision for Children with Down Syndrome. Pediatrics. 128 (2). DOI: https://doi.org/10.1542/peds.2018-0518


Hollier, A. (Ed.). (2018). Genetic disorders. In Clinical Guidelines in Primary care. (3rd ed.). Advanced Practice Education Associates.


Ivan, D., Cromwell, P. (2013). Clinical practice guidelines for management of children with down syndrome. Journal of Pediatric Health Care, 32(6). https://doi.org/10.1016/j.pedhc.2013.05.002


National Institutes of Health. U.S. National Library of Medicine. (2018). Chromosome 21. https://ghr.nlm.nih.gov/chromosome/21


Multifactorial Inheritance Disorders


Centers for Disease Control and Prevention. (2016). Guidelines for vaccinating pregnant women. https://www.cdc.gov/vaccines/pregnancy/hcp-toolkit/guidelines.html


Dungan, Jeffrey S. (2019). Prenatal genetic counseling. Merck Manual online. https://www.merckmanuals.com/professional/gynecology-and-obstetrics/prenatal-genetic-counseling-and-evaluation/prenatal-genetic-counseling


U.S. National Library of Medicine. (2019). Genetics Home Reference: A fact sheet about the inheritance of multifactorial disorders from the Centre for Genetics Education. https://ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders


World Health Organization. (2019). Human Genomics in Global Health: Genes and human diseases. https://www.who.int/genomics/en/


Single Gene Defects


Blencowe, H., Moorthis, S., Petrou, M., Mamamy, H., et al. (2018). Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. Journal of Community Genetics. 9(4), 397-406. doi: 10.1007/s12687-018-0376-2

Centers for Disease Control and Prevention. (2016). Guidelines for vaccinating pregnant women. https://www.cdc.gov/vaccines/pregnancy/hcp-toolkit/guidelines.html


Dungan, Jeffrey S. (2019). Prenatal genetic counseling. Merck Manual. https://www.merckmanuals.com/professional/gynecology-and-obstetrics/prenatal-genetic-counseling-and-evaluation/prenatal-genetic-counseling


World Health Organization. (2019). Human genomics in global health: genes and human diseases. https://www.who.int/genomics/en /



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