Prenatal and pre-implantation genetic diagnosis

Nat Rev Genet. 2016 Sep 15;17(10):643-56. doi: 10.1038/nrg.2016.97.


The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders. These advances are changing clinical practice and pose novel challenges for genetic counselling and prenatal care.

Publication types

  • Review

MeSH terms

  • Female
  • Fertilization in Vitro / methods*
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing / methods*
  • Humans
  • Pregnancy
  • Preimplantation Diagnosis / methods*
  • Prenatal Diagnosis / methods*