Preconceptual Diagnosis

  • Deivanayagam MaruthiniEmail author
  • Colleen Lynch
  • Maha Ragunath


Preconceptual diagnosis is an advanced assisted reproductive technology, which potentially enables the birth of children free of inheritable conditions and chromosomal abnormalities by implanting genetically tested embryo into human uterus. While preimplantation genetic diagnosis tests the embryos for deleterious, heritable genetic conditions which are known to be present in the family, preimplantation genetic screening, as the name denotes, screens the embryos for chromosomal anomalies which contribute to recurrent miscarriages and conditions such as Downs syndrome. The scope for achieving healthy live births through preconceptual diagnosis has only become possible due to recent advances in molecular and bioinformatics technology. When introduced, sexing of the embryos using fluorescent in situ hybridization was the only available method of genetic diagnosis. Later, various other methods such as, testing the embryos for linked markers, array-based comparative hybridisation, Karyomapping and Next Generation Sequencing have revolutionised preconceptual diagnosis. The objective of this chapter is to provide the readers an up-to-date knowledge on the multi-specialty management of patients with positive genetic history and with those at risk of conceiving chromosomally abnormal babies.


Pre-implantation genetic diagnosis Chromosomal screening Assisted conception Karyomapping ArrayCGH 


Author Declaration

The authors declare no conflict of interest.


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Copyright information

© Springer International Publishing Switzerland 2017

Authors and Affiliations

  • Deivanayagam Maruthini
    • 1
    Email author
  • Colleen Lynch
    • 2
    • 3
  • Maha Ragunath
    • 1
  1. 1.Department of Medicine and GynaecologyCARE FertilityNottinghamUK
  2. 2.Department of Embryology, Genesis Genetics EuropeCARE FertilityNottinghamUK
  3. 3.School of BiosciencesUniversity of KentCanterburyUK

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