Hum. Reprod. Advance Access originally published online on January 31, 2008
Human Reproduction 2008 23(4):741-755; doi:10.1093/humrep/dem354
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ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005
1 UCL Centre for PGD, Institute for Women's Health, University College London, 86-96 Chenies Mews, WC1E6HX London, UK 2 PGD Working Group Maastricht, Department of Clinical Genetics, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands 3 ESHRE Central Office, Meerstraat 60, 1852 Grimbergen, Belgium 4 Genetics and IVF Institute, 3015 Williams Drive, Fairfax, VA 22031, USA 5 Service de la Biologie de la Reproduction, SIHCUS-CMCO, 19, Rue Louis Pasteur, BP120, 67303 Schiltigheim, France 6 Center for Reproductive Medicine, Academic Medical Center, Fertility Laboratory (A1-229), Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands 7 Department of Cytogenetics and Center for Preimplantation Genetic Diagnosis, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, St Thomas Street, London SE1 9RT, UK 8 Laboratory of Medical Genetics, University of Athens, St Sophia's Children's Hospital, 11527 Athens, Greece 9 Melbourne IVF, 320 Victoria Parade, 3002 East Melbourne, VIC, Australia 10 Department of Embryology and Genetics of the VUB and Centre for Medical Genetics of the Universitair Ziekenhuis Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium
11 Correspondence address. Tel: +44-20-7679-6072; E-mail: joyce.harper{at}ucl.ac.uk
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Abstract |
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The seventh report of the ESHRE PGD Consortium is presented documenting cycles collected for the calendar year 2004 and follow-up of the pregnancies and babies born subsequent to these cycles up to October 2005. Since the beginning of the data collections, there has been a steady increase in the number of cycles, pregnancies and babies reported. For data collection VII, 45 centres have participated, reporting on 3358 cycles to oocyte retrieval (OR), 679 pregnancies and 528 babies born. Five hundred and fifty nine OR were reported for chromosomal abnormalities, 113 OR for sexing for X-linked diseases, 520 OR for monogenic diseases, 2087 OR for PGS, and 79 OR for social sexing. Data VII is compared with the cumulative data for data collections I–VI.
Key words: preimplantation genetic diagnosis/preimplantation genetic screening/fluorescence in situ hybridization/polymerase chain reaction/ESHRE PGD Consortium
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Introduction |
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TopAbstractIntroductionMaterials and MethodsResultsDiscussionAcknowledgementsReferences |
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The ESHRE PGD Consortium was established in 1997. Six data collections on preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS–PGD for aneuploidy) have been published (ESHRE PGD Consortium Steering Committee, 1999
, 2000, 2002; Sermon et al., 2005, 2007; Harper et al., 2006). This report summarizes data VII collected for the calendar year 2004 and the subsequent pregnancies. In contrast to previous years, in data VII cycles started and cancelled prior to oocyte retrieval (OR) were removed from the data. This information had previously been requested in an attempt to estimate the rate of cycle cancellation, but the majority of centres did not report cancelled cycles leading to an underestimation of the number of these cycles. Additionally, data VII reports on the sex requested for social sexing and gives a detailed analysis of the misdiagnoses. |
Materials and Methods |
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TopAbstractIntroductionMaterials and MethodsResultsDiscussionAcknowledgementsReferences |
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Data were collected using a FileMaker Pro 5, 6 or 8 database and consisted of files for cycle, pregnancy and baby records. The first round of data analysis was general and identified omissions and some errors. Corrections were requested from participating centres. This was followed by a more in-depth correction and analysis by expert co-authors. Records with insufficient data, e.g. with no cycle or patient identification or no clear indication, from the wrong time period, or reported after the closure of the collection period, were excluded from the calculations. Pregnancies were defined as the presence of one or more fetal hearts at ~6-week gestation. Implantation rate was defined as the number of fetal hearts per 100 embryos transferred.
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Results |
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TopAbstractIntroductionMaterials and MethodsResultsDiscussionAcknowledgementsReferences |
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Data from 45 centres were included in this report. The results are represented in tables according to an established lay-out. Accompanying text is deliberately concise, and seven tables are only available in an electronic version: Table IIc with the list of abnormal karyotypes carried by the patients undergoing PGD, Table IIIc with the list of X-linked diseases for which sexing was carried out, Table IVc with the list of monogenic diseases for which PGD was carried out, Tables VIIIa (data I–VI) and VIIIb (data VII) with the complications of pregnancy and Tables XIIa (data I–VI) and XIIb (data VII) with the congenital malformations and the neonatal complications. An overview of all cycles collected previously in data collections I–VI can be found in Table Ia, whereas an overview of the current data collection can be found in Table Ib.
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For all indications for PGD/PGS, ICSI was the most often used method of fertilization and cleavage stage aspiration was the most commonly used method of biopsy. Overall, zona drilling was more commonly performed using a laser but for some indications, such as chromosome abnormalities, acid Tyrode's was used more often (one centre that carries out a large proportion of the cycles for chromosome abnormalities used acid Tyrode's).
PGD cycles for chromosomal abnormalities
Tables IIa and IIb summarize the 1633 and 559 cycles to OR collected for data collection I–VI and VII, respectively. As for previous years, data VII showed that PGD for reciprocal translocations was performed more often than for Robertsonian translocations or other types of chromosome abnormalities. For data VII, 8083 oocytes were collected, 61% (4955/8083) fertilized, 76% (3769/4955) embryos were biopsied and 99% (3745/3769) embryos were successfully biopsied. Of the embryos successfully biopsied, 93% (3485/3745) gave a diagnostic result, of which only 25% (863/3485) were transferable. From 559 OR procedures, only 64% (359/559) resulted in an embryo transfer procedure. This is in agreement with previous data showing that a high level of chromosomally abnormal embryos are found in these patients. A positive hCG was obtained in 109 cycles, with a positive heartbeat in 90 cycles (16% per OR (90/559) and 25% per ET (90/359)). This gave an implantation rate of 19% (115/614). These pregnancy rates were similar to the previous data collections.
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PGD cycles for sexing for X-linked diseases
Tables IIIa and IIIb summarize the 703 and 113 cycles to OR collected for data collection I–VI and VII, respectively. As for previous years, FISH was used more than PCR (only one cycle by PCR). For data VII, 1504 oocytes were collected, 63% (830/1311) fertilized, 74% (617/830) embryos were biopsied and 99% (608/617) were successfully biopsied. Of the embryos successfully biopsied, 93% (564/608) gave a diagnostic result, of which only 32% (183/564) were transferable (female). From 113 OR procedures, only 67% (76/113) resulted in an embryo transfer procedure. A positive hCG was obtained in 26 cycles, with a positive heartbeat in 20 cycles (18% per OR (20/113) and 26% per ET (20/76)). This gave an implantation rate of 17% (20/120). These pregnancy rates were similar to the previous data collections.
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PGD for monogenic diseases
Tables IVa and IVb summarize the 1579 and 520 cycles to OR collected for data collection I–VI and VII, respectively. The most common indications for PGD for autosomal recessive diseases were cystic fibrosis (51 cycles), β-thalassemia (38 cycles, plus five cycles for β-thalassemia with HLA typing), spinal muscular atrophy (SMA) (36 cycles) and sickle cell anaemia (12 cycles, plus seven cycles for sickle cell/β-thalassemia and four cycles with HLA typing). There were four cycles for two independent disorders; SMA combined with retinitis pigmentosa. The most common indications in the group of autosomal dominant diseases were myotonic dystrophy type I (80 cycles), Huntington disease (56 cycles), Neurofibromatosis type I (18 cycles) and adenomatous polyposis coli (12 cycles). The most common indications where a specific diagnosis of X-linked diseases was carried out were for fragile X syndrome (FRAXA) (37 cycles), Duchenne muscular dystrophy (DMD) (19 cycles), and haemophilia (8 cycles). PGD cycles for an additional 53 monogenic diseases were initiated in 133 cycles, (included under ‘others’ in Table IVb), and they are listed in Table IVc. Besides the cycles for β-thalassemia or sickle cell anaemia with HLA typing, HLA typing was carried out with PGD for Fanconi anaemia (1 cycle), Incontinentia Pigmenti (2 cycles), sexing (1 cycle) and Wiskott–Aldrich syndrome (1 cycle) as well as 6 cycles for HLA typing alone (in total 20 cycles involving HLA).
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For data VII, 7128 oocytes were collected, 71% (4231/5975) fertilized, 71% (3021/4231) embryos were biopsied and 100% (3011/3021) were successfully biopsied. Three cycles used IVF for embryo fertilization, whereas in the remaining 517 cycles, ICSI was used. IVF is not recommended when PCR is used because sperm embedded in the zona can enter the PCR tube and contaminate the blastomere (Thornhill et al., 2005
). In the majority of cycles, biopsy was carried out using cleavage stage aspiration but four (0.8%) used trophectoderm biopsy in blastocysts and one cycle used polar body biopsy. Of the embryos successfully biopsied, 88% (2664/3011) gave a diagnostic result, of which 52% (1383/2664) were transferable. From 520 OR procedures, 77% (402/520) resulted in an embryo transfer procedure. A positive hCG was obtained in 134 cycles, with a positive heartbeat in 103 cycles (20% per OR (103/520) and 26% per ET (103/402)). This gave an implantation rate of 16% (128/781). These pregnancy rates were similar to the previous data collections. Overall, the number of PGD cycles performed for monogenic disorders between January and December 2004 represents the largest number performed in a single year so far with an increase in the number of different disorders tested. Four cycles involved more than one monogenic disorder (SMA and retinitis pigmentosa), and one cycle each for SMA, DMD and FRAXA were combined with PGS by FISH analysis. Thirteen cycles were for an autosomal recessive or specific diagnosis of an X-linked disorder combined with HLA typing. Of the 20 cycles carried out involving HLA typing, only two (Wiskott–Aldrich syndrome/HLA and sexing/HLA) resulted in a pregnancy. A shift towards PGD for inherited cancer predispositions has continued from the last data collection.
Preimplantation genetic screening
Tables Va and Vb summarize the 4791 and 2087 cycles to OR reported for data collection I–VI and VII, respectively. For data VII, 24 029 oocytes were collected, 71% (13 711/19317) fertilized, 86% (11 751/13711) embryos were biopsied and 99% (11 605/11751) were successfully biopsied. Of the embryos successfully biopsied, 94% (10 938/11605) gave a diagnostic result, of which only 37% (4002/10 938) were transferable. From 2087 OR procedures only 72% (1500/2087) resulted in an embryo transfer procedure. A positive hCG was obtained in 501 cycles, with a positive heartbeat in 376 cycles (18% per OR (376/2087) and 25% per ET (376/1500)). This gave an implantation rate of 18% (465/2641). These pregnancy rates were similar to the previous data collections.
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The main indications were advanced maternal age (AMA) (541 OR) and repeated implantation failure (RIF) (670 OR). Three new combinations of indications were reported: patients who had experienced a previous chromosomally abnormal pregnancy, RIF combined with severe male factor infertility (SMF) and AMA combined with SMF. A large number of cycles were reported as having no indication (79 OR). All indications involving AMA showed pregnancy rates per OR below 14%. Patients with two indications involving AMA (AMA plus spontaneous abortion, AMA plus RIF and AMA plus SMF) all did poorly with a pregnancy rate per OR of <8%. Recurrent spontaneous abortion showed a relatively high pregnancy rate (27% per OR (72/267)) as did SMF (SMF alone; 29% per OR (56/195) and combined with RIF; 33% per OR 3/9)). Patients with no indication had a pregnancy rate of 19% per OR (15/79).
From 2087 cycles, 131 involved the biopsy of only one embryo and 190 involved the biopsy of two embryos. A large number of these cycles were for AMA. The value of PGS, if only one or two embryos are available, is debatable and possibly the best course to take is to transfer them without biopsy. Alternatively, PGS on cycles with a low number of embryos could have a diagnostic character, i.e. it could help patients to make further reproductive decisions if none of their embryos were found to be chromosomally normal.
There are repeatedly cycles with no indication and various odd indications (represented in the ‘other’ column) such as endometriosis, poor quality embryos, tubal disease and radiotherapy.
The Consortium has set up a working group to examine various aspects of PGS in more detail (see Discussion). There are numerous ongoing discussions about the efficacy of PGS (Harper et al., 2007).
PGD cycles for social sexing
Tables VIa and VIb summarize the 333 and 79 cycles to OR collected for data collection I–VI and VII, respectively. For data VII, 1220 oocytes were collected, 68% (644/949) fertilized, 74% (478/644) embryos were biopsied and 96% (461/478) were successfully biopsied. Of the embryos successfully biopsied, 97% (445/461) gave a diagnostic result, of which only 25% (113/445) were transferable (of the desired sex). From 79 OR procedures, only 62% (49/79) resulted in an embryo transfer procedure. A positive hCG was obtained in 20 cycles, with a positive heartbeat in 15 cycles (19% per OR (15/79) and 31% per ET (15/49)). This gave an implantation rate of 23% (21/92). These pregnancy rates were similar to the previous data collections.
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For the first time in data collections, the number of cycles undertaken for each gender is reported, and discussed. The majority of cycles were for couples who requested a male embryo (60 cycles) rather than a female embryo (19 cycles). The vast majority of the cycles in this category are from one centre in the USA where MicroSort® sperm separation is available. Although the initial requests for males and females is reported to be 50:50, those requesting a female may opt for MicroSort® sperm selection only as the average sort purity is >90% for X-bearing sperm, compared with an average sort purity of just over 70% for Y-bearing sperm (Schulman and Karabinus, 2005
). This disparity in sort percentage is the most likely cause for the uneven distribution of social sexing PGD cycles.
Social sex selection remains controversial and the debate about its application continues. Many PGS cycles include probes for the sex chromosomes and so the embryonic gender is known. Certainly in some countries, patients are requesting embryos of a particular sex after PGS (Baruch et al., 2006). In other jurisdictions, patients having PGS are not permitted to choose embryos on the basis of gender. Sex selection for non-medical reasons is still prohibited in Europe and Australia.
Pregnancies and babies
Tables VIIa, VIIb, IXa, IXb, Xa, Xb, XIa, XIb, (VIIIa, VIIIb, XIIa and XIIb) summarize the pregnancy and baby data. Data VII was comparable with previous data collections. Thirty-three of the 45 participating centres sent in data on the follow-up of their pregnancies and babies born. It is clear from these figures that not all PGD centres invest in long-term follow-up of the pregnancies they initiate. This shortcoming was also identified by a survey conducted jointly by IPTS (Insitute for Prospective Technological Studies of the EU's Joint Research Centre), Eurogentest and ESHRE (Corveleyn et al., 2007). The PGD Consortium strongly recommends that all PGD centres follow-up their pregnancies.
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Six hundred and seventy nine pregnancies were reported for data VII representing 665 fetal sacs (Table VIIb). Of the 603 cycles ending in a pregnancy with a positive heartbeat, follow-up on 526 clinical pregnancies was reported. Of the 456 pregnancies reported to have ended in the birth of at least one baby (total number of babies=557), neonatal data on 528 babies born from 431 deliveries were submitted, i.e. 431 baby records were submitted from the 456 pregnancy records. The majority of deliveries were by Caesarean section (234/456) (Table IXb). The live birth rate per cycle to OR could only be calculated based on the data from centres that send in pregnancy data, as only in these instances could the cycles (n = 2965) be followed through to their final outcome. Cycles ending in a pregnancy that was reported by the centre to be lost to follow-up were excluded from the calculation (n = 18). Of the 456 reported deliveries, 455 ended in the birth of at least one live born baby. This leads to a live birth rate per cycle to OR of 455/2965, or 15%. It is hoped that for data VIII a breakdown of the delivery rate per indication will be possible.
Confirmation of the diagnosis was performed either prenatally (316/667) or post-natally (287/581) (Table IXb). (Table XIIb) shows the abnormalities found during or after the pregnancy. Several abnormalities were found that were not related to the PGD.
This report again indicates that pregnancies and babies born after PGD are very similar to the pregnancies obtained and babies born after ICSI treatment (Bonduelle et al., 2002, Tables XIa and XIb). In our series, the number of multiple pregnancies remains high: 36% (200/557) of the babies born are part of a multiplet at birth. As multiplicity is clearly related to maternal and child morbidity and mortality, the practice of limiting the number of embryos transferred should also be introduced in PGD as it has been introduced in regular IVF.
Misdiagnoses
An overview of the misdiagnoses reported in the previous reports and additional misdiagnoses that have subsequently been reported are shown in Table XIIIa. The table only contains details of ‘adverse’ misdiagnoses, i.e. when an affected or aneuploid embryo was transferred. One occurrence of a misdiagnosis without adverse effect was reported previously: the birth of twins where the two children carried cystic fibrosis whereas at PGD the embryos had been diagnosed as homozygous normal. For most pregnancies data on this situation would not be available. Confirmation of the diagnosis for dominant disorders is not usually performed post-natally.
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Eighteen misdiagnoses have been reported, 9 after PGD for PCR and 9 after PGD or PGS using FISH. In all cases of misdiagnosis, unprotected sex during the PGD cycle could be responsible as any embryos generated in vivo would not be tested. Patients should be advised to avoid unprotected intercourse during PGD/PGS cycles (Thornhill et al., 2005
). The problems that lead to PCR misdiagnoses are well known: contamination or allele drop-out. Furthermore, embryo mosaicism and notably the presence of haploid cells could cause misdiagnoses. Certainly, for the earlier reported misdiagnoses, when the current practice of multiplex PCR or even preimplantation genetic haplotyping was not introduced, these phenomena could lead to erroneous conclusions. The misdiagnoses for DM1 and SMA were probably due to contamination according to the centres. The misdiagnoses for sexing were probably due to non-amplification of the Y-specific sequences. For the other misdiagnoses, the centres could not offer an explanation. After PGD with PCR, it is often difficult to trace back the reason for misdiagnosis.This is mainly due to the fact that the same sample cannot be analysed twice after single cell PCR. Also, because often non-transferred embryos are not systematically checked, there is no internal check to rule out human error eg incorrect labelling of the embryos, transfer of the wrong embryo, etc.
For the FISH misdiagnoses the situation is different. Slides with spread blastomeres, trophectoderm cells or polar bodies should be kept and re-probed if any discordance with a conceptus is identified. For the PGS misdiagnosis, the centres re-analysed the slides and confirmed the normal result. However, there are several ways a misdiagnosis can result during FISH analysis. If cleavage or blastocyst stage biopsy was carried out a possible explanation could be mosaicism of the embryo, with a normal cell being biopsied from an otherwise abnormal embryo. If more than three FISH probes are used the efficiency of the FISH procedure is decreased and the risk of overlapping signals or failure of hybridization is higher (Ruangvutilert et al., 2000). There were two cases of trisomy 16 after PGS of the first polar body; although non disjunction of chromosome 16 typically occurs during maternal meiosis I, these misdiagnoses may still have resulted as a consequence of meiosis II error, fertilization with aneuploid spermatozoa, post-zygotic non-disjunction in the embryos or FISH or human error. Cumulus cell contamination is also possible during FISH which would result in a normal female nucleus being analysed. This is a possible explanation for the misdiagnosis of sex in the social sexing case and the XO case. When using FISH for sexing it is advisable to include the sex chromosome probes in the first round of FISH and to reduce the number of other probes in this round to ensure an accurate diagnosis of sex. For the misdiagnosis of the 47,XX,+der(22)t(11;22)(q23.3;q11.2) mat it was clearly shown that the choice of probes did not allow identification of this unbalanced product of the translocation (Sermon et al., 2005; Mackie Ogilvie and Scriven, 2004; Kyu Lim et al., 2004).
For data VII, three new misdiagnoses are reported, one for PCR (CMT1A) and two for FISH (47,XXX after PGS for RIF and 46,XY,der(15)t(13;15)(q25.1;q26.3)pat after PGD for this reciprocal translocation) (Table XIIIb). The centre where the misdiagnosis for CMT1A occurred reported that the haplotype analysis of the family before PGD was incorrect. The family was informative for only one linked marker, for which the interpretation in the family was difficult. This couple had previously had a son after PGD using the same test, and unfortunately it was shown that this child was also affected with CMT1A (Table XIIIa). For the FISH misdiagnoses, further enquiries with the centres are ongoing.
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Discussion |
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TopAbstractIntroductionMaterials and MethodsResultsDiscussionAcknowledgementsReferences |
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Since the introduction of the filemaker Pro database in 2002, the data collection is continually being simplified. Most notably, the referral and frozen sheets will no longer be used and the data on the cancelled cycles and the re-analysis of embryos will no longer be requested. Re-analysis of untransferred embryos is important and the PGD Consortium have set up a misdiagnosis working group. A survey of centres performing re-analysis of untransferred embryos is underway.
For the first time, the misdiagnoses are reported separately and in detail. The misdiagnosis working group plans to make an in-depth analysis of these misdiagnoses, by going back to the centres and requesting specific information on the circumstances in which the misdiagnosis occurred. These findings will be published in a separate report with the aim of highlighting the pitfalls that may cause misdiagnosis and developing guidelines to minimize the risks.
The Consortium is committed to improvements in communication on issues regarding PGD. As a result, a number of initiatives are underway. There are now two levels of membership of the Consortium; full membership for centres who submit annual data and associate membership for centres who cannot submit data (including new clinics, IVF units who work with a diagnostic lab who is a member of the Consortium or full members who cannot submit data for a particular year). The centres who submit data will have access to the raw data while the associate centres will be allowed to participate in the annual Consortium meetings. A quarterly newsletter for all members of registered centres is also produced.
The Consortium has set up four working groups to deal with important issues in PGD. The first is to investigate laboratory accreditation as this is now a requirement of many diagnostic laboratories. However, different countries have different systems in operation and some do not presently require any accreditation. Nevertheless, the Consortium foresees that ultimately all genetic diagnostic laboratories, including those performing PGD, will have to be accredited and be complying with ISO 15189/2007 (the Consortium are also launching an on line quality assurance scheme for PGS). The task of the second working group is to investigate current practices, appropriate indications and efficiency of aneuploidy screening, including the formulation of a consensus on the terminology. The third working group is preparing a detailed paper on the misdiagnoses and will discuss the possible sources of error that could lead to affected pregnancies. They will also collate data on re-analysis of untransferred embryos. The fourth working group is looking at ways to improve the data collection.
The paediatric follow-up of PGD babies has been launched and all Consortium members will have the opportunity to be involved in this study.
Data VIII (cycles performed in 2005) has been collected and is currently being analysed by the steering committee. It is hoped that the end-point for data VIII will be delivery rather than implantation rates for each indication.
The huge amount of detailed information the Consortium has collected is unique and studies are underway to analyse many aspects of the data in more depth.
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Acknowledgements |
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TopAbstractIntroductionMaterials and MethodsResultsDiscussionAcknowledgementsReferences |
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Many thanks to all of the centres who participated in data collection VII.
Argentina: Fecunditas; Australia: Melbourne IVF; Belgium: Department of Embryology and Genetics of the VUB and Centre for Medical Genetics of the Universitair Ziekenhuis Brussels; Hopital Erasme, ULB, Laboratoire FIV; Ghent University Hospital, Infertility Centre; Leuven Institute for Fertility and Embryology; GIFT, ZOL Ziekenhuis; Brazil: Sao Paolo; Czech Republic: Sanatorium Repromeda; Finland: Helsinki University Central Hospital, Department of Obstetrics and Gynaecology/IVF Unit; AVA-Clinic; France: SIHCUS-CMCO, Service de la Biologie de la Reproduction; Hopital Beclère, Service de Biologie Génétique de la Réproduction; Institut de biologie, Lab de Biochemie Génétique; Germany: University of Bonn, Department. Obstetrics and Gynaecology; Section of Reproductive Medicine, University Women's Hospital, Kiel; University Clinic of Schleswig-Holstein; Campus Luebeck, Department of Obstetrics and Gynecology; Israel: Tel-Aviv Sourasky Centre; Hadassah Medical Organisation, IVF Unit, Department of Ob/Gyn; The Danek Gertner Institute of Human Genetic, Sheba Medical Centre; Italy: SISMER; Greece: IVF and Genetics; University of Athens, St. Sophia's Children's Hosp, Laboratory of Medical Genetics; EMBRYOGENESIS, Centre for subfertility studies; Korea: Kwadong University College of Medicine, Cheil General Hospital, Department of Ob/Gyn, division of Reproductive Endocrinology and Infertility; Portugal: Faculty Of Medicine Of Porto-Hospital S. Joao, Department of Medical Genetics; Spain: Instituto Dexeus; Universitat Autonoma. Barcelona, Unitat de Biologia Cel.lular; Instituto Valenciano de Infertilidad; Institut Marquès, Servei de Diagnòstic Genètic Preimplantacional; Instituto de Reproduccion CEFER; Sweden: Department of Clinical Genetics; Sahlgrenska University Hospital, Department of Ob/Gyn; Taiwan: Lin-Kou Medical Centre, Chang Gung Memorial Hospital and Medical Collega, Department Of Ob/Gyn; The Netherlands: PGD working group Maastricht, The Centre for Reproductive Medicine; Afdeling Verloskunde en Vrouwenziekten, Subafdeling Voortplantingsgeneeskunde, en Afdeling Klinische Genetica; Denmark: Aarhus University Hospital, Centre for Preimplantation Genetic Diagnosis; Fertility Clinic, University Hospital Copenhagen; Turkey: Istanbul Memorial Hospital, Reproductive endocrinology and ART centre; UK: UCL Centre for PGD, Department of Cytogenetics and Centre for Preimplantation Genetic Diagnosis; Thomas Guy House, Guy's Hospital, Assisted Conception Unit; The London Bridge Fertility, Gynaecology and Genetics centre; USA: Baylor College of Medicine USA, Department of Ob/Gyn; Jones Inst. For Reproductive Med; Genetics and IVF Institute; Shady Grove Centre for Preimplantation Genetics.
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TopAbstractIntroductionMaterials and MethodsResultsDiscussionAcknowledgementsReferences |
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Submitted on August 22, 2007; resubmitted on August 22, 2007; accepted on October 9, 2007.
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T. El-Toukhy, A. Kamal, E. Wharf, J. Grace, V. Bolton, Y. Khalaf, and P. Braude Reduction of the multiple pregnancy rate in a preimplantation genetic diagnosis programme after introduction of single blastocyst transfer and cryopreservation of blastocysts biopsied on Day 3 Hum. Reprod., October 1, 2009; 24(10): 2642 - 2648. [Abstract] [Full Text] [PDF]
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V. Goossens, G. Harton, C. Moutou, J. Traeger-Synodinos, M. Van Rij, and J.C. Harper ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007 Hum. Reprod., August 1, 2009; 24(8): 1786 - 1810. [Abstract] [Full Text] [PDF]
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L. Wilton, A. Thornhill, J. Traeger-Synodinos, K.D. Sermon, and J.C. Harper The causes of misdiagnosis and adverse outcomes in PGD Hum. Reprod., May 1, 2009; 24(5): 1221 - 1228. [Abstract] [Full Text] [PDF]
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 J. Poulton, S. Kennedy, P. Oakeshott, and D. Wells Preventing transmission of maternally inherited mitochondrial DNA diseases BMJ, January 30, 2009; 338(jan30_1): b94 - b94. [Full Text]
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V. Goossens, G. Harton, C. Moutou, P.N. Scriven, J. Traeger-Synodinos, K. Sermon, and J.C. Harper ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006 Hum. Reprod., December 1, 2008; 23(12): 2629 - 2645. [Abstract] [Full Text] [PDF]
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S. Mastenbroek, P. Scriven, M. Twisk, S. Viville, F. Van der Veen, and S. Repping What next for preimplantation genetic screening? More randomized controlled trials needed? Hum. Reprod., December 1, 2008; 23(12): 2626 - 2628. [Abstract] [Full Text] [PDF]
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B. C.J.M. Fauser Preimplantation genetic screening: the end of an affair? Hum. Reprod., December 1, 2008; 23(12): 2622 - 2625. [Full Text] [PDF]
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 J. Dreesen, M. Drusedau, H. Smeets, C. de Die-Smulders, E. Coonen, J. Dumoulin, M. Gielen, J. Evers, J. Herbergs, and J. Geraedts Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice Mol. Hum. Reprod., October 1, 2008; 14(10): 573 - 579. [Abstract] [Full Text] [PDF]
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