The majority of individuals diagnosed with Marfan syndrome have a mutation in the fibrillin 1 (FBN1) gene located on chromosome 15. This genetic change will have either been inherited (75 % chance) from one of the parents or the mutation will have arisen as result of a new or “de novo” change (25 %). Discussions with health care professionals trained in genetics, a genetic counsellor or clinical geneticist specialising in cardiac conditions would be recommended so that individuals can fully understand their options prior to planning a family.
KeywordsAdoption Amniocentesis Aneuploidies Chorionic villus sampling (CVS) Chromosomal trisomies Donor conception network Embryo transfer Foetal heart Gamete donor Gamete (egg or sperm) donation Genetic counsellor Haplotype Human Fertilization and Embryology Authority (HFEA) Infection Infertility In vitro fertilisation (IVF) Karyomapping Miscarriage Natural conception Next generation sequencing (NGS) Non-anonymity Non-invasive genetic diagnosis (NIPD) Non-invasive genetic testing (NIPT) Options Ovarian stimulation Polymerase chain reaction (PCR) Preimplantation genetic diagnosis (PGD) Prenatal Diagnosis (PND) Primers Quantitative fluorescence polymerase chain reaction (QF-PCR) Reproductive risk Rh sensitization Short tandem repeat markers (STRs) Termination of pregnancy Twin pregnancies
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