Abstract
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.
Author supplied keywords
- Adoption
- Amniocentesis
- Aneuploidies
- Chorionic villus sampling (CVS)
- Chromosomal trisomies
- Donor conception network
- Embryo transfer
- Foetal heart
- Gamete (egg or sperm) donation
- Gamete donor
- Genetic counsellor
- Haplotype
- Human Fertilization and Embryology Authority (HFEA)
- In vitro fertilisation (IVF)
- Infection
- Infertility
- 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
Cite
CITATION STYLE
Sage, K. (2016). Reproductive decisions. In Diagnosis and Management of Marfan Syndrome (pp. 245–262). Springer-Verlag London Ltd. https://doi.org/10.1007/978-1-4471-5442-6_23
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