Preimplantation genetic testing practices in the Nordic countries.
Chromosome Aberrations
Embryo Transfer
/ statistics & numerical data
Female
Genetic Counseling
/ statistics & numerical data
Genetic Testing
/ methods
High-Throughput Nucleotide Sequencing
/ statistics & numerical data
Humans
In Situ Hybridization, Fluorescence
Karyotyping
/ statistics & numerical data
Polymerase Chain Reaction
/ statistics & numerical data
Polymorphism, Single Nucleotide
Practice Patterns, Physicians'
/ statistics & numerical data
Pregnancy
Pregnancy Rate
Preimplantation Diagnosis
Scandinavian and Nordic Countries
Surveys and Questionnaires
Waiting Lists
Nordic countries
aneuploidies
assisted reproduction technologies
monogenic disorders
preimplantation genetic testing
quality control
structural rearrangements
Journal
Acta obstetricia et gynecologica Scandinavica
ISSN: 1600-0412
Titre abrégé: Acta Obstet Gynecol Scand
Pays: United States
ID NLM: 0370343
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
21
10
2019
revised:
27
01
2020
accepted:
02
02
2020
pubmed:
9
2
2020
medline:
21
10
2020
entrez:
9
2
2020
Statut:
ppublish
Résumé
Preimplantation genetic testing (PGT) is growing in importance and volume internationally. International societies such as the European Society for Human Reproduction and Embryology compile international results and these data are published in scientific journals. We present the first compilation of practices, quality measuress and outcome data from Nordic clinics performing PGT. We conducted a structured online survey of PGT practices in the Nordic countries to compare clinical and laboratory techniques, outcomes and quality measures applied in Nordic clinics. The survey was designed by the authors and answered by the authors and members of the study group. The outcome data represents results from 2018. Results and details were clarified through iteration with responding clinics while maintaining anonymity. Response rate in the study was 80%, with 8 of 10 clinics performing PGT responding. Most of the PGT cycles in the Nordic countries are funded through the public healthcare system with University Hospitals performing the majority of treatments, 716/848, or 84.4%, of oocyte retrievals in this dataset. The genetic analyses are in five cases performed by the affiliated local genetic laboratory, and the remaining three consult with large international private enterprise laboratories. Genetic counseling is widely used. Results in the Nordic clinics compare well with international data. Systematic quality control procedures are in place and the larger clinics and laboratories utilize ISO certification or accreditation in the quality management. Automatic witnessing with detailed electronic documentation of laboratory processes is not utilized in the responding clinics, although a majority uses manual witnessing procedures in the laboratory. The outcome after PGT in terms of clinical pregnancy per transfer is around 40% per embryo transfer and compares well with international data. Preimplantation genetic testing is organized in rather few clinics in the Nordic countries and most of them use local laboratories for genetic analyses of the biopsies. Laboratory procedures are largely in accordance with international guidelines and the outcome after PGT in terms of clinical pregnancy per transfer is comparable to results in international reports.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
707-715Investigateurs
Morten Rønn Petersen
(MR)
Peter Bredbacka
(P)
Bugge Nøhr
(B)
Linda Savolainen
(L)
Christina Hnida
(C)
Christian Liebst Frisk Toft
(CLF)
Johnny Hindkjaer
(J)
Jørn Aagaard
(J)
Kersti Lundin
(K)
Laura Kirstine Sønderberg Roos
(LKS)
Informations de copyright
© 2020 Nordic Federation of Societies of Obstetrics and Gynecology.
Références
Ingerslev HJ, Hindkjaer J. Preimplantation genetic diagnosis with HLA matching - a way to save a child. Acta Obstet Gynecol Scand. 2012;91:765-768.
Sermon K, De Rijcke M, Lissens W, et al. Preimplantation genetic diagnosis for Huntington’s disease with exclusion testing. Eur J Hum Genet. 2002;10:591-598.
Franasiak JM, Forman EJ, Hong KH, et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014;101:656-663.
Rubio C, Bellver J, Rodrigo L, et al. In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study. Fertil Steril. 2017;107:1122-1129.
Scott RT, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;97:870-875.
Patrizio P, Shoham G, Shoham Z, Leong M, Barad DH, Gleicher N. Worldwide live births following the transfer of chromosomally ‘abnormal’ embryos after PGT/A: results of a worldwide web-based survey. J Assist Reprod Genet. 2019;36:1599-1607.
Gleicher N, Orvieto R. Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review. J Ovarian Res. 2017;10:21.
Penzias A, Bendikson K, Butts S, et al. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril. 2018;109:429-436.
Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768-770.
Rienzi L, Gracia C, Maggiulli R, et al. Oocyte, embryo and blastocyst cryopreservation in ART: systematic review and meta-analysis comparing slow-freezing versus vitrification to produce evidence for the development of global guidance. Hum Reprod Update. 2017;23:139-155.
De Rycke M, Goossens V, Kokkali G, Meijer-Hoogeveen M, Coonen E, Moutou C. ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Hum Reprod. 2017;32:1974-1994.
Stern HJ. Preimplantation genetic diagnosis: prenatal testing for embryos finally achieving its potential. J Clin Med. 2014;3:280-309.
Abacan M, Alsubaie L, Barlow-Stewart K, et al. The global state of the genetic counselling profession. Eur J Hum Genet. 2019;27:183-197.
Harton G, Braude P, Lashwood A, Schmutzler A, Wilton L, Harper JC. ESHRE PGD Consortium-best practice guidelines for organization of a PGD center for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26:14-24.
Harton G, Harper JC, Coonen E, Pehlivan T, Vesela K, Wilton L. ESHRE PGD Consortium best practice guidelines for FISH-based preimplantation genetic diagnosis (PGD). Hum Reprod. 2011;26:25-32.
Harton G, DeRycke M, Fiorentino F, et al. ESHRE PGD Consortium best practice guidelines for DNA amplification-based preimplantation genetic diagnosis (PGD). Hum Reprod. 2011;26:33-40.
Harton G, Magli C, Lundin K, Montag M, Lemmon J, Harper JC. ESHRE PGD Consortium/Embryology special interest group - best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2011;26:41-46.
Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online. 2008;16:134-147.
ESHRE PGT Consortium Steering Committee, et al. ESHRE PGT Consortium good practice recommendations for the organisation of preimplantation genetic testing. HROpen, in press OR Version for stakeholder review. http://www.eshre.eu/guidelines (last accessed July 2019).
ESHRE PGT Consortium and SIG-Embryology Biopsy Working Group, et al. ESHRE PGT Consortium and SIG-Embryology good practice recommendations for polar body and embryo biopsy for preimplantation genetic testing. HROpen, in press OR Version for stakeholder review. http://www.eshre.eu/guidelines (last accessed July 2019).
ESHRE PGT-SR, PGT-A Working Group, ESHRE PGT, et al. Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations. HROpen, in press OR Version for stakeholder review. http//www.eshre.eu/guidelines (last accessed July 2019).
ESHRE PGT-M Working Group, ESHRE PGT, et al. Consortium good practice recommendations for the detection of monogenic disorders. HROpen, in press OR Version for stakeholder review. http://www.eshre.eu/guidelines (last accessed July 2019).
Ginoza MEC, Isasi R. Regulating preimplantation genetic testing across the world: a comparison of international policy and ethical perspectives. Cold Spring Harb Perspect Med. 2020;10:a036681.
Munné S, Kaplan B, Frattarelli JL, et al. Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial. Fertil Steril. 2019;112:1071-1079.e7.
Munné S, Alikani M, Ribustello L, et al. Euploidy rates in donor egg cycles significantly differ between fertility centers. Hum Reprod. 2017;32:743-749.
Cram DS, Leigh D, Handyside A, et al. PGDIS position statement on the transfer of mosaic embryos 2019. Reprod Biomed Online. 2019;39(suppl 1):e1-e4.
Huang L, Bogale B, Tang Y, Lu S, Xie XS, Racowsky C. Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy. Proc Natl Acad Sci USA. 2019;116:14105-14112.
Kuznyetsov V, Madjunkova S, Antes R, et al. Evaluation of a novel non-invasive preimplantation genetic screening approach. PLoS ONE. 2018;13:e0197262.
Capalbo A, Romanelli V, Patassini C, et al. Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions. Fertil Steril. 2018;110:870-879.
Simpson JL, Rechitsky S, Kuliev A. Before the beginning: the genetic risk of a couple aiming to conceive. Fertil Steril. 2019;112:622-630.
Vaz-de-Macedo C, Harper J. A closer look at expanded carrier screening from a PGD perspective. Hum Reprod. 2017;32:1951-1956.