TY - JOUR
T1 - Recent developments in genetics and medically assisted reproduction
T2 - from research to clinical applications
AU - Harper, J. C.
AU - Aittomaki, K.
AU - Borry, P.
AU - Cornel, M. C.
AU - de Wert, G.
AU - Dondorp, W.
AU - Geraedts, J.
AU - Gianaroli, L.
AU - Ketterson, K.
AU - Liebaers, I.
AU - Lundin, K.
AU - Mertes, H.
AU - Morris, M.
AU - Pennings, G.
AU - Sermon, K.
AU - Spits, C.
AU - Soini, S.
AU - van Montfoort, A. P. A.
AU - Veiga, A.
AU - Vermeesch, J. R.
AU - Viville, S.
AU - Macek, M.
AU - European Soc Human Reprod; European Soc Human Genetics
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.
AB - Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.
KW - Assisted reproductive technology
KW - Epigenetics
KW - Expanded carrier screening
KW - Gamete donor anonymity
KW - Germline genome editing
KW - Female infertility
KW - Male infertility
KW - Mitochondrial replacement therapy
KW - Non-invasive prenatal testing
KW - Preimplantation genetic testing
KW - PRIMARY OVARIAN INSUFFICIENCY
KW - CONGENITAL ADRENAL-HYPERPLASIA
KW - HUMAN PREIMPLANTATION EMBRYOS
KW - MITOCHONDRIAL-DNA DISEASE
KW - EXOME SEQUENCING REVEALS
KW - FETAL SEX DETERMINATION
KW - SCREENING PGS STILL
KW - OOGONIAL STEM-CELLS
KW - NEXT-GENERATION
KW - MALE-INFERTILITY
U2 - 10.1038/s41431-017-0016-z
DO - 10.1038/s41431-017-0016-z
M3 - (Systematic) Review article
C2 - 29199274
SN - 1018-4813
VL - 26
SP - 12
EP - 33
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 1
ER -