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J Geraedts

Publications and source records attributed to J Geraedts.

14 recordsLinked to original sources
PubMed2005

ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003.

The fifth report of the ESHRE PGD Consortium is presented (data collection V). For the first time, the cycle data were collected for one calendar year (2002) in the following October, so that data collection was complete for pregnancies and babies. The data were collected using a Filemaker Pro database and divided into referrals, cycles, pregnancies and babies. There are currently 66 active centres registered with the consortium; however, the data presented here were obtained from 43 centres and included 1603 referrals, 2219 cycles, 485 pregnancies and 382 babies born. The cycle data were divided into preimplantation genetic diagnosis (PGD) for inherited disorders (including chromosome abnormalities, sexing for X-linked disease and monogenic disorders), aneuploidy screening (PGS) and the use of PGD for social sexing. Data collection V is compared with the previous cumulative data collection (I-IV), which comprised 4058 PGD/PGS cycles that reached oocyte retrieval.

Aneuploidy↗
PubMed2004

ESHRE PGD Consortium data collection IV: May-December 2001.

The ESHRE PGD Consortium was formed in 1997 to survey the practice of preimplantation genetic diagnosis (PGD). Since then, three reports have been published giving an overview on PGD from an ever-increasing number of centres and reporting on an increasing number of PGD cycles and pregnancies and babies born after PGD. After these initial influential publications, important shortcomings were identified primarily on the method of data collection, i.e. with Excel spreadsheets, and in the timing of the collection (cycles were collected in a different time frame from pregnancies and babies, making the follow-up of cycles very difficult). This is why the Steering Committee has made a major investment in developing and implementing a new database in FileMaker Pro 6. It was also decided that cycles would be collected from one calendar year, as well as the pregnancies and babies ensuing from that particular calendar year. This gave us the opportunity to take a closer look at the data collected earlier, and to attempt to improve their quality. This is a report on the corrected data from the first three data collections (I-III) as well as the result of the last data collection (IV) that was completely carried out using the new database.

Data Collection↗
PubMed2000

ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000).

In 1997, the ESHRE PGD Consortium was formed as part of the ESHRE Special Interest Group on Reproductive Genetics, in order to undertake a long-term study of the efficacy and clinical outcome of preimplantation genetic diagnosis (PGD). In December 1999, the first PGD Consortium report was published discussing referrals of 323 couples, 392 PGD cycles and 82 pregnancies and 79 children born. In the second round of data collection, contributing centres were asked to send in data from their PGD activities before January 1997, as well as from 1st October 1998 until 1st May 2000, in order to have as complete as possible an overview of PGD practices in these centres. A further 563 referrals were sent in as well as 926 PGD cycles, and data on 89 pregnancies (including seven pregnancies ongoing from the previous group) and 83 children were collected. This has led to a considerable amount of cumulative data being acquired: over a period of 7 years (the oldest PGD cycle reported dates from 1994), referral data on 886 couples, cycle data on 1318 PGD cycles and data on 163 pregnancies and 162 babies were collected. In all, these data are encouraging: they show first, that the practice of PGD is becoming more and more established, and an increasing number of different applications is emerging; and second, that collecting these data is worthwhile, as they will be a valuable source of information for all those involved, e.g. in counselling patients and interacting with governmental bodies.

Aneuploidy↗
PubMed1999

A retrospective follow-up study on intracytoplasmic sperm injection.

PURPOSE: Genetic aspects of male subfertility and the novelty of intracytoplasmic sperm injection (ICSI) as a new technique can influence the development of zygotes and children born after ICSI. Therefore, we evaluated the outcome of ICSI compared to in vitro fertilization (IVF). METHODS: Data from medical records of 233 total pregnancies and the follow-up of 132 children born after IVF and 120 after ICSI were retrospectively analyzed. RESULTS: No differences were found between ICSI and IVF for early embryonic development and obstetric outcome. In both groups the rate of women undergoing prenatal chromosomal diagnosis was low, 30.0%. The congenital malformation rate was 3.0% after IVF and 1.7% after ICSI, which was not significantly different. Follow-up on development of children born after IVF and ICSI also showed no significant differences. CONCLUSIONS: Our results indicate that at this moment ICSI is a safe procedure. However, a consistent prospective follow-up is still mandatory to exclude possible risks.

Adult↗
PubMed1999

ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee.

The first clinical application of preimplantation genetic diagnosis (PGD) was reported almost a decade ago. Since then, the range of genetic defects that can be detected at single cell level has increased dramatically. At the 13th Annual Meeting of ESHRE in Edinburgh in 1997, a PGD Consortium was formed to undertake the first systematic and long-term study of the efficacy and clinical outcome of PGD. We report here the first data collection covering the period of January 1997 to September 1998. Referral data on 323 couples have been collected for a variety of monogenic and chromosomal disorders, providing information about which patients, at risk for which genetic diseases, are interested in PGD. Data were collected on 392 PGD cycles, resulting in 302 embryo transfers and 66 clinical pregnancies. Because of the importance of follow-up of the children born after PGD, participating centres were asked to contribute data on the pregnancies achieved and the children born after PGD since the start of their PGD programme. Data on 82 pregnancies and 110 fetal sacs were collected, and information was available on 79 children. Finally, biopsy, fluorescence in-situ hybridization and polymerase chain reaction protocols were collected, clearly showing that no consensus exists on technical aspects such as which culture medium to use, and emphasizing the role the PGD Consortium could play in setting up guidelines for good laboratory practice. In conclusion, it is clear that the effort of gathering data on PGD cycles is worthwhile and will be continued in the future, preferably using electronic data collection.

Female↗
PubMed1996

Uniparental maternal disomy 6 in a renal transplant patient.

HLA analysis of the family of a renal transplant patient revealed an extremely rare condition. On repeated typings the only demonstrable HLA antigens shown in the propositus were from the maternal haplotype, HLA-A11,-B46,-CW1,-DR14,-DQ1. No paternal antigens could be demonstrated either by serologic or by DNA-typing methods. A paternity investigation was carried out to exclude the possibility of the legal father not being the biological father. The results of this investigation showed a paternity index I = > 20000 and a fatherhood probability W = > 99.995%. Karyotyping of the patient showed two normal chromosomes 6 and no other chromosomal abnormalities. Maternal isodisomy was demonstrated from the analysis of polymorphic DNA markers, involving the short as well as the long arm of chromosome 6. These data are consistent with this patient having the first uniparental maternal disomy 6 reported (inheritance of two identical chromosome 6 haplotypes from the mother and none from the father).

Adult↗
PubMed1994

Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis.

A fluorescence in situ hybridization (FISH) procedure was used to detect chromosome abnormalities in archival abortion material. Nuclei were isolated from 50-microns-thick tissue blocks from 18 selected and karyotyped abortions. Five probes for repetitive centromeric sequences of chromosomes 1, 16, 18, X and Y were used. For each chromosome, at least 200 nuclei were scored blindly, i.e. without knowledge of the karyotype. The FISH results obtained were compatible with the cytogenetic data in 14 cases. There were four discrepancies. Two of these were observed for cases karyotyped as trisomy 16. Furthermore, FISH results showed trisomy 18 in two cases having normal chromosomes 18 and 18q+, respectively. The latter case was not discrepant if the structural rearrangement involved chromosome 18 material. The remaining discrepancies could be explained by chromosomal mosaicism. Admixture of normal maternal cells was also noted. It is concluded that FISH can be used to study retrospectively the presence of chromosome abnormalities in abortion material. However, the quality obtained after the use of fresh material is superior.

Abortion, Spontaneous↗
PubMed1993

Heterogeneity in bladder cancer as detected by conventional chromosome analysis and interphase cytogenetics.

Thirty transitional cell carcinomas (TCCs) of the bladder were examined by classical chromosome counting to establish range, modal number, and percentage of metaphases with 2n, 3n, 4n, and > or = 5n chromosomes. In addition, fluorescence in situ hybridization (FISH) was applied to interphase nuclei to detect the percentage of tumor cells showing polyploidization and chromosome imbalance. In FISH, centromere-specific DNA probes for chromosomes 1, 7, 9, and 11 were used. The tumors were analyzed flow cytometrically to determine the DNA index (DI). Fourteen of 21 cases (67%) having a DI = 1 showed, after classical chromosome counting, in addition to a diploid model number, some cells with a 3n and 4n chromosome count. With FISH, eight cases (38%) showed a low percentage of cells with multiple signals for each of the probes, thus indicating polyploidization. In 13 (62%) cases, an imbalance between different chromosomes was detected. In nine tumors having a DI of 1.6 to 1.9, classical chromosome counting showed low percentages of > or = 5n cells in four cases, in addition to a triploid modal number. With FISH in six cases, a low percentage of cells showed five or more signals for each of the chromosomes, indicating polyploidization. In all cases, a chromosome imbalance was detected. With classical chromosome counting not all tumors can be analyzed. With FISH, small percentages of polyploid cells are not recognized. Both methods complement each other in that chromosome counting allows readier detection of heterogeneity in DNA-diploid tumors after polyploidization, whereas FISH allows efficient recognition of the chromosomes involved in the process of imbalance.

Adult↗
PubMed1987

Chromosomal analysis of bladder cancer. II. A practical method.

Twenty-seven successive bladder cancer tissue specimens, varying from noninfiltrating to deeply infiltrating ones, were chromosomally analyzed using a new direct method. Recognizable metaphases were obtained from 25 specimens (93%). In nearly all cases, suitable C-banding and in nine cases G-banding was achieved. Essential steps in this method are colcemid application in two steps, interrupted by washing with Hanks' balanced sodium solution and two separated hypotonic treatments. This method is easy to use and not time consuming.

Chromosome Aberrations↗
PubMed1987

Chromosomal analysis of bladder cancer. III. Nonrandom alterations.

Chromosome analysis using G- and C-banding was performed on 13 primary transitional cell carcinomas of the bladder. The chromosome preparations were obtained by a direct method. In eight tumors with a (near) diploid modal chromosome number, the most frequently observed chromosome aberrations were: (partial) monosomy 9 in four cases, deletion of 10q in two cases, and partial trisomy 1 in two cases. In five tumors with a modal chromosome number in the triploid or tetraploid range the chromosomes #1, #3, #7, #9, #11, and #17 were numerically and or structurally abnormal in at least four cases. In three out of ten males, the Y chromosome was missing. These findings suggest that the loss of chromosome #9, and possibly also loss of 10q is a primary event in the karyotypic evolution of transitional cell carcinoma of the bladder.

Carcinoma, Transitional Cell↗
PubMed1985

Chromosomal analysis of bladder cancer: technical aspects.

Of 77 patients with bladder carcinoma, 99 tissue specimens--including tissues of patients with recurrent tumors taken after radiotherapy or cytostatics--were subjected to chromosomal analysis. In 42 specimens, recognizable metaphases could be obtained after conventional Giemsa staining and in a smaller number after C- and/or G-banding. All except one had abnormalities of the chromosomes. Short-term cultures for 24-48 hr in RPMI 1640 plus 15% fetal calf serum plus penicillin-streptomycin gave better results than a direct technique (30 min in 0.075 M KCl + 0.1 microgram colcemid/ml at 37 degrees C, followed by fixation). In low stage/grade tumors the number of recognizable metaphases obtained after short-term cultures is lower than in higher stage/grade tissue specimens.

Cells, Cultured↗