A. Van Montfoort1, M. De Rycke2, F. Carvalho3, C. Rubio4, F. Bronet5, F.
Spinella6, V. Goossens7.
1Maastricht University Medical Center, Dept. of
Ob/Gyn, Maastricht, The Netherlands.
2UZ Brussels, Centre for Medical
Genetics, Brussels, Belgium.
3University of Porto Faculty of Medicine,
Genetics Faculty of Medicine, Porto, Portugal.
4Igenomix, R&D Department,
5IVI, IVF and PGD lab, Madrid, Spain.
Genetics Laboratories, Rome, Italy.
7ESHRE, Central Office, Grimbergen,
Which trends are shown in data collection XXI
of the European Society of Human Reproduction and Embryology (ESHRE) PGT
Consortium compared with previous years?
Data collection XXI, year 2018, represents valuable data
on PGT activity in (mainly) Europe and reports on the main trends observed which
are the continuous increase of trophectoderm biopsy and further expansion of
comprehensive testing technology in PGT-SR and PGT-A.
What is known already:
The ESHRE PGT Consortium was set up in 1997 and
from that time has been collecting data on PGT and PGT-A. The PGT database
comprises the world’s largest collection of PGT / PGT-A data providing a
valuable resource for data mining and for following trends in PGT practice. So
far, up to the year 2015, data collections were carried out in a retrospective
data way, from 2016 onwards a prospective data collection was in place.
Study design, size, duration:
As the nature of PGT/ PGT-A treatments has
changed significantly over the last years and IVF cycle management and genetic
analysis techniques are getting more complex, ESHRE uses an online data
collection system in which data are collected prospectively from oocyte
retrieval to analysis, embryo transfer and pregnancy / live birth. Data are
collected cycle by cycle on a voluntary basis.
Participants/materials, settings, method:
For the 2018 data, individual
centres (39) from 21 countries directly entered the data into the PGT database
through software developed by ESHRE. Data were analysed at ESHRE headquarters
and include all aspects of PGT/PGT-A cycles.
Main results and the role of chance:
The Consortium has analysed the PGT
analyses (n=2831) performed in 2018. The indications for PGT included inherited
chromosomal abnormalities (n=553 analyses), monogenic disorders (n=1229
analyses), aneuploidy testing for infertility (n=868 analyses), HLA typing (n=12
analyses) and PGT for mitochondrial disorders (n=3 analyses). In addition, 701
clinical pregnancies and 411 deliveries have been analysed in detail. The
methods used for biopsy were polar body (1.1%), cleavage stage biopsy (31.4%)
and blastocyst biopsy (67.5%; comparable with data from 2017). The methodology
used for diagnosis is also evolving, with data set XXI showing around 10% of
FISH, 37% of PCR and 53% of WGA. Within WGA 79% of the analyses were done using
NGS, 10% using array-CGH and in 8.5% cases SNP arrays were used. The overall
pregnancy rate is about 21.5%. The baby data show that it is difficult for most
centres to have a detailed follow-up.
Limitations, reasons for caution:
The findings apply to the 38
participating centres and may not represent worldwide trends in PGT. Data were
collected prospectively, but details of the follow-up on PGT pregnancies and
babies born were limited.
Wider implications of the findings:
The ESHRE PGD Consortium continues its
activities as an important forum for PGT practitioners to share data and
exchange experiences. The information extracted from the data collections helps
to monitor quality issues in PGT and survey the introduction and effectiveness
of new PGT technologies and methods.