Reproductive Decisions

Chapter

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.

Keywords

Adoption 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 

References

  1. 1.
    Clarke A, editor. Genetic Counselling: Practice and Principles. Routledge ISBN 0-415-08258-7Google Scholar
  2. 2.
    Handyside AH, Kontogianni EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.CrossRefPubMedGoogle Scholar
  3. 3.
    Fiorentino F, Kahraman S, Karadayi H, et al. Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching. Eur J Hum Genet. 2005;13:953–8.CrossRefPubMedGoogle Scholar
  4. 4.
    Renwick P, Trussler J, Lashwood A, et al. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 2010;20:470–6.CrossRefPubMedGoogle Scholar
  5. 5.
    Handyside AH, Thornhill AR, Ottolini C, Sage K, et al. Live birth by preimplantation genetic diagnosis following validation of a universal approach (Karyomapping) for simultaneous detection of monogenic and chromosomal disorders. Reprod Biomed Online. 2014. http://dx.doi.org/10.1016/j.rbmo.2014.07.007.
  6. 6.
    Thornhill AR, Handyside AH, Ottolini C, Taylor J, Sage K, et al. Comparison of targeted haplotype and mutation analysis with SNP genotyping and karyomapping in single cells for preimplantation genetic diagnosis of Marfan syndrome. J Assist Reprod Genet. 2015;32:347–56. doi: 10.1007/s10815-014-0405-y.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Bustamante-Aragones A, Perlado-Marina S, Trujillo-Tiebas MJ, et al. Non-invasive prenatal diagnosis in the management of preimplantation genetic diagnosis pregnancies. J Clin Med. 2014;3:913–22. doi: 10.3390/jcm3030913.CrossRefPubMedGoogle Scholar
  8. 8.
    Harton GL, De Rycke M, Fiorentino F, et al. European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26(1):33–40. doi: 10.1093/humrep/deq231. Epub 2010.CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag London 2016

Authors and Affiliations

  1. 1.Department of Preimplantation Genetic DiagnosisThe Bridge Centre, London Fertility ClinicLondonUK

Personalised recommendations