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Your search keyword '"Gerssen-Schoorl, K. B. J."' showing total 5 results
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2. Risicofactoren voor structurele chromosoomafwijking bij > or = 2 miskramen als instrument voor selectieve karyotypering

Author

Franssen, M T M, Korevaar, J C, Leschot, N J, Bossuyt, P M M, Knegt, A C, Gerssen-Schoorl, K B J, Wouters, C H, Hansson, K B M, Hochstenbach, P F R, Madan, K, van der Veen, F, Goddijn, M, Biomedical Engineering and Physics, Epidemiology and Data Science, Amsterdam Public Health, Human Genetics, Other Research, Center for Reproductive Medicine, and Amsterdam Reproduction & Development (AR&D)

Subjects
Adult, Chromosome Aberrations, Male, Heterozygote, Abortion, Habitual/genetics, Genetic Carrier Screening, Patient Selection, Risk Assessment, Pregnancy, Risk Factors, Case-Control Studies, Karyotyping, Humans, Female, Genetic Predisposition to Disease, Abortion, Spontaneous/genetics, Genetic Testing, Maternal Age
Abstract

OBJECTIVE: To identify additional risk factors and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages. DESIGN: Nested case-control study. METHOD: In 6 centres for clinical genetics in the Netherlands, data were collected from couples referred for karyotyping after 2 2 miscarriages from 1992-2000. Factors influencing the probability of carrier status were examined. The corresponding probability of carrier status was calculated for the various combinations of these factors. RESULTS: In total 279 carrier couples and 428 non-carrier couples were included. 4 independent factors influencing the probability of carrier status were identified: a younger maternal age at the time of second miscarriage, a history of > or = 3 miscarriages, a history of > 2 miscarriages in a brother or sister of either partner, and a history of> 2 miscarriages in parents of either partner. The calculated probability of carrier status in couples referred for chromosome analysis after two or more miscarriages, varied between 0.5-10.2%. In 18% of couples included, the risk was found to be so low (< 2.2%), that in couples with comparable risk factors, it may not be necessary to perform karyotyping. CONCLUSION: This study demonstrated that the probability of carrier status in couples with > or = 2 miscarriages is modified by additional factors. Selective chromosome analysis would result in a more effective referral policy and therefore decrease the number of chromosome analyses and lower the costs.

Published
2007

3. Risicofactoren voor structurele chromosoomafwijking bij 2 of meer miskramen als instrument voor selectieve karyotypering

Author

Franssen, M. T. M., Korevaar, J. C., Leschot, N. J., Bossuyt, P. M. M., Knegt, A. C., Gerssen-Schoorl, K. B. J., Wouters, C. H., Hansson, K. B. M., Hochstenbach, P. F. R., Madan, K., van der Veen, F., Goddijn, M., Amsterdam Public Health, Epidemiology and Data Science, Other Research, Human Genetics, Amsterdam Reproduction & Development (AR&D), and Center for Reproductive Medicine

Abstract

OBJECTIVE: To identify additional risk factors and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages. DESIGN: Nested case-control study. METHOD: In 6 centres for clinical genetics in the Netherlands, data were collected from couples referred for karyotyping after 2 2 miscarriages from 1992-2000. Factors influencing the probability of carrier status were examined. The corresponding probability of carrier status was calculated for the various combinations of these factors. RESULTS: In total 279 carrier couples and 428 non-carrier couples were included. 4 independent factors influencing the probability of carrier status were identified: a younger maternal age at the time of second miscarriage, a history of > or = 3 miscarriages, a history of > 2 miscarriages in a brother or sister of either partner, and a history of> 2 miscarriages in parents of either partner. The calculated probability of carrier status in couples referred for chromosome analysis after two or more miscarriages, varied between 0.5-10.2%. In 18% of couples included, the risk was found to be so low ( or = 2 miscarriages is modified by additional factors. Selective chromosome analysis would result in a more effective referral policy and therefore decrease the number of chromosome analyses and lower the costs

Published
2007

4. Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

Author

Tuerlings, J H A M, de France, H F, Hamers, A, Hordijk, R, Van Hemel, J O, Hansson, K, Hoovers, J M N, Madan, K, Van Der Blij-Philipsen, M, Gerssen-Schoorl, K B J, Kremer, J A M, and Smeets, D F C M

Subjects
CHROMOSOME abnormalities, CHROMOSOMAL translocation, CHROMOSOMES
Abstract

The chance of a male with severe oligozoospermia or azoospermia achieving a pregnancy has undergone a revolutionary increase with the introduction of the intracytoplasmic sperm injection technique (ICSI). However, since ICSI circumvents part of the natural sperm selection mechanisms, the possible transmission of genetic defects to the offspring is a major concern. Cytogenetic analysis is a relatively simple technique to identify at least the carriers of a chromosomal aberration before starting the ICSI procedure. In order to assess the frequency of chromosomal aberrations in male ICSI candidates, we have performed a nationwide cytogenetic study. Of the 1792 males examined, 72 (4.0%) revealed a chromosomal aberration, and one individual even had two. Numerical sex chromosomal aberrations and Robertsonian translocations predominated, followed by reciprocal translocations, inversions and supernumerary marker chromosomes. The different implications, in case a chromosomal aberration is encountered prior to ICSI, are discussed. [ABSTRACT FROM AUTHOR]

Published
1998
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5. [Risk factors for structural chromosomal abnormality in > or = 2 miscarriages, as an instrument for selective karyotyping].

Author

Franssen MT, Korevaar JC, Leschot NJ, Bossuyt PM, Knegt AC, Gerssen-Schoorl KB, Wouters CH, Hansson KB, Hochstenbach PF, Madan K, van der Veen F, and Goddijn M

Subjects
Abortion, Spontaneous genetics, Adult, Case-Control Studies, Female, Genetic Carrier Screening, Genetic Predisposition to Disease, Heterozygote, Humans, Karyotyping, Male, Maternal Age, Patient Selection, Pregnancy, Risk Assessment, Risk Factors, Abortion, Habitual genetics, Chromosome Aberrations, Genetic Testing
Abstract

Objective: To identify additional risk factors and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages., Design: Nested case-control study., Method: In 6 centres for clinical genetics in the Netherlands, data were collected from couples referred for karyotyping after 2 2 miscarriages from 1992-2000. Factors influencing the probability of carrier status were examined. The corresponding probability of carrier status was calculated for the various combinations of these factors., Results: In total 279 carrier couples and 428 non-carrier couples were included. 4 independent factors influencing the probability of carrier status were identified: a younger maternal age at the time of second miscarriage, a history of > or = 3 miscarriages, a history of > 2 miscarriages in a brother or sister of either partner, and a history of> 2 miscarriages in parents of either partner. The calculated probability of carrier status in couples referred for chromosome analysis after two or more miscarriages, varied between 0.5-10.2%. In 18% of couples included, the risk was found to be so low (< 2.2%), that in couples with comparable risk factors, it may not be necessary to perform karyotyping., Conclusion: This study demonstrated that the probability of carrier status in couples with > or = 2 miscarriages is modified by additional factors. Selective chromosome analysis would result in a more effective referral policy and therefore decrease the number of chromosome analyses and lower the costs.

Published
2007

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