Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives. 2019

Emily Thain, and Cheryl Shuman, and Kristen Miller, and Karen Sappleton, and Diane Myles-Reid, and David Chitayat, and Clare Gibbons
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Consanguinity, the union between two individuals who are related as second cousins or closer, is a long-standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic counseling session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity-related risks and genetic services. Our findings support the personal utility of genetic counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, counseling, and testing relevant to this patient population.

UI MeSH Term Description Entries
D008297 Male Males
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D008487 Medical History Taking Acquiring information from a patient on past medical conditions and treatments. Medical History, Previous,Past Medical History, Family,Previous Medical History,Family Health History,Family History, Health,Family History, Medical,Family Medical History,History Taking, Medical,Family Health Histories,Family Medical Histories,Health Family Histories,Health Family History,Health History, Family,History, Previous Medical,Medical Family Histories,Medical Family History,Medical Histories, Previous,Medical History, Family,Previous Medical Histories
D009042 Motivation Those factors which cause an organism to behave or act in either a goal-seeking or satisfying manner. They may be influenced by physiological drives or by external stimuli. Incentives,Disincentives,Expectations,Disincentive,Expectation,Incentive,Motivations
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D003376 Counseling The giving of advice and assistance to individuals with educational or personal problems.
D005190 Family A social group consisting of parents or parent substitutes and children. Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005193 Family Planning Services Health care programs or services designed to assist individuals in the planning of family size. Various methods of CONTRACEPTION can be used to control the number and timing of childbirths. Family Planning,Family Planning Programs,Planned Pregnancy,Pregnancy, Planned,Family Planning Program,Family Planning Service,Planned Pregnancies,Planning Service, Family,Planning Services, Family,Pregnancies, Planned,Program, Family Planning,Programs, Family Planning,Service, Family Planning,Services, Family Planning
D005260 Female Females

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