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Sebastiaan Mastenbroek - One of the best experts on this subject based on the ideXlab platform.

  • preimplantation Genetic Screening back to the future
    Human Reproduction, 2014
    Co-Authors: Sebastiaan Mastenbroek, Sjoerd Repping
    Abstract:

    All agree that in hindsight the rapid adoption of preimplantation Genetic Screening (PGS) using cleavage stage biopsy and fluorescence in situ hybridization (FISH) in routine clinical practice without proper evaluation of (cost-)effectiveness basically resulted in couples paying more money for a less effective treatment. Now, almost 20 years later, we are on the verge of a new era of PGS. But have things really changed or are we simply going back to the future?

  • Preimplantation Genetic Screening: a reappraisal
    2011
    Co-Authors: Sebastiaan Mastenbroek
    Abstract:

    Preimplantation Genetic Screening (PGS) has been used in clinical practice for more than 15 years with the goal of increasing live birth rates after IVF. In this thesis it is shown that PGS in its current form instead decreases live birth rates after IVF. Reasons for its inefficacy are provided and new forms of PGS and the role of embryo selection in the near future of IVF are being discussed.

  • In vitro fertilization with preimplantation Genetic Screening.
    The New England journal of medicine, 2007
    Co-Authors: Sebastiaan Mastenbroek, Moniek Twisk, Jannie Van Echten-arends, Birgit Sikkema-raddatz, Johanna C. Korevaar, Harold R. Verhoeve, Niels E. A. Vogel, Eus G. J. M. Arts, Jan W.a De Vries, Patrick M.m. Bossuyt
    Abstract:

    BACKGROUND Pregnancy rates in women of advanced maternal age undergoing in vitro fertilization (IVF) are disappointingly low. It has been suggested that the use of preimplantation Genetic Screening of cleavage-stage embryos for aneuploidies may improve the ef- fectiveness of IVF in these women. METHODS We conducted a multicenter, randomized, double-blind, controlled trial comparing three cycles of IVF with and without preimplantation Genetic Screening in women 35 through 41 years of age. The primary outcome measure was ongoing pregnancy at 12 weeks of gestation. The secondary outcome measures were biochemical preg- nancy, clinical pregnancy, miscarriage, and live birth. RESULTS Four hundred eight women (206 assigned to preimplantation Genetic Screening and 202 assigned to the control group) underwent 836 cycles of IVF (434 cycles with and 402 cycles without preimplantation Genetic Screening). The ongoing-pregnancy rate was significantly lower in the women assigned to preimplantation Genetic screen- ing (52 of 206 women (25%)) than in those not assigned to preimplantation Genetic Screening (74 of 202 women (37%); rate ratio, 0.69; 95% confidence interval (CI), 0.51 to 0.93). The women assigned to preimplantation Genetic Screening also had a significantly lower live-birth rate (49 of 206 women (24%) vs. 71 of 202 women (35%); rate ratio, 0.68; 95% CI, 0.50 to 0.92). CONCLUSIONS Preimplantation Genetic Screening did not increase but instead significantly reduced the rates of ongoing pregnancies and live births after IVF in women of advanced maternal age. (Current Controlled Trials number, ISRCTN76355836.)

  • In vitro fertilization with preimplantation Genetic Screening
    Obstetrical & Gynecological Survey, 2007
    Co-Authors: Sebastiaan Mastenbroek, Moniek Twisk, Jannie Van Echten-arends, Birgit Sikkema-raddatz, Johanna C. Korevaar, Harold R. Verhoeve, Niels E. A. Vogel, Eus G. J. M. Arts, Jan W.a De Vries, Patrick M.m. Bossuyt
    Abstract:

    Both in vitro fertilization (IVF) and preimplantation Genetic Screening are being increasingly used, the latter for women of advanced maternal age. Observational studies show that, when Screening is added to IVF, implantation rates increase but rates of ongoing pregnancies do not. Some researchers believe that preimplantation Genetic Screening of cleavage-stage embryos for aneuploidies may make IVF more effective. The present multicenter, randomized, double blind, controlled trial compared 3 cycles of IVF with embryo selection based either on preimplantation Genetic Screening or on the morphologic features of the embryo. Of the 408 participants, all women ranging in age from 35 through 41 years, 206 were assigned to preimplantation Genetic Screening. Screening accompanied 434 of 836 cycles of IVF. Screening began 3 days after follicular aspiration by biopsying a single blastomere on all embryos having 4 or more blastomeres. Compared with control women, those having preimplantation Genetic Screening had a significantly lower rate of ongoing pregnancy (25% vs. 37%). The rate ratio was 0.69, with a 95% confidence interval (CI) of 0.51-0.93. Biochemical and clinical pregnancy rates also were significantly lower in the screened group, but there was no significant difference in rates of miscarriage. Women assigned to Genetic Screening had a significantly lower rate of live births than control subjects (24% vs. 35%). The rate ratio was 0.68, with a 95% CI of 0.50-0.92. Not only did preimplantation Genetic Screening fail to increase rates of ongoing pregnancy and live births following IVF in this population of older women, but observed rates were lower than in control (unscreened) women. At present, preimplantation Genetic Screening should not be routinely performed in women of advanced maternal age who undergo IVF. It is not clear whether different results would be obtained in women with indications for Genetic Screening other than advanced maternal age.

Joël Zlotogora - One of the best experts on this subject based on the ideXlab platform.

  • Compliance for Genetic Screening in the Arab population in Israel.
    The Israel Medical Association journal : IMAJ, 2012
    Co-Authors: Rivka Sukenik-halevy, Ulfat Abu Leil-zoabi, Lilach Peled-perez, Joël Zlotogora, Stavit Allon-shalev
    Abstract:

    Background: Genetic Screening tests for cystic fibrosis (CF), fragile X (FRAX) and spinal muscular atrophy (SMA) have been offered to the entire Arab population of Israel in the last few years. Since 2008, Screening for CF is provided free of charge, but for FRAX and SMA the Screening is privately funded with partial coverage by complementary health insurance programs. o bjectives: To assess the compliance of Arab couples with regard to Genetic Screening tests, and the factors that affect their decisions. methods: We analyzed compliance for Genetic Screening tests at the Emek Medical Center Genetic Institute, and in outreach clinics in four Arab villages. We enquired about the reasons individuals gave for deciding not to undergo testing. We also assessed the compliance of these individuals for the triple test (a Screening test for Down syndrome). r esults: Of the 167 individuals included in our study, 24 (14%) decided not to be tested at all. Of the 143 (86%) who decided to be tested, 109 were tested for CF only (65%) and 34 (20%) for SMA and FRAX (as well as CF). The compliance rate for the triple test was 87%. Technical reasons, mainly financial issues, were the most significant factor for not undergoing all three tests. conclusions: The compliance of the Arab community for Genetic testing for SMA and FRAX is extremely low. We believe that this low utilization of Screening is due to economic reasons, especially when a complementary health plan has not been acquired, and largely reflects the perception that these tests are less important since they are privately funded.

  • Genetic Screening for reproductive purposes at school: is it a good strategy?
    American journal of medical genetics. Part A, 2008
    Co-Authors: Ayala Frumkin, Joël Zlotogora
    Abstract:

    Thalassemia and Tay-Sachs disease were the first diseases in which the criteria for heterozygote Genetic Screening were met and successful programs for reproductive purposes were initiated in populations at risk. However, many of the couples first discover the possibility of Genetic Screening during pregnancy and efforts are made to bring couples to consider Screening tests before the first pregnancy. In this context, high school offers a convenient setting and several pilot programs have been very successful. All evaluations of these programs found that education plays a critical role in allowing informed decisions and minimizing the possible harms. While it has been suggested that high school may be the best setting for reproductive Screening programs, guidelines of several societies of human Genetics recommend the use of carrier Screening only in individuals older than 18 years. There are several other problems related to Genetic Screening programs at school and some are discussed in the review. Our opinion is that school should be a place to provide the tools for decisions by education only; while the option to have the Genetic tests later in life or in another setting should be offered to the students as part of the education session. This may allow the students to decide when and where to have a Genetic test.

  • Genetic Screening for reproductive purposes at school: is it a good strategy?
    American Journal of Medical Genetics Part A, 2007
    Co-Authors: Ayala Frumkin, Joël Zlotogora
    Abstract:

    Thalassemia and Tay-Sachs disease were the first diseases in which the criteria for heterozygote Genetic Screening were met and successful programs for reproductive purposes were initiated in populations at risk. However, many of the couples first discover the possibility of Genetic Screening during pregnancy and efforts are made to bring couples to consider Screening tests before the first pregnancy. In this context, high school offers a convenient setting and several pilot programs have been very successful. All evaluations of these programs found that education plays a critical role in allowing informed decisions and minimizing the possible harms. While it has been suggested that high school may be the best setting for reproductive Screening programs, guidelines of several societies of human Genetics recommend the use of carrier Screening only in individuals older than 18 years. There are several other problems related to Genetic Screening programs at school and some are discussed in the review. Our opinion is that school should be a place to provide the tools for decisions by education only; while the option to have the Genetic tests later in life or in another setting should be offered to the students as part of the education session. This may allow the students to decide when and where to have a Genetic test. © 2007 Wiley-Liss, Inc.

Patrick M.m. Bossuyt - One of the best experts on this subject based on the ideXlab platform.

  • In vitro fertilization with preimplantation Genetic Screening.
    The New England journal of medicine, 2007
    Co-Authors: Sebastiaan Mastenbroek, Moniek Twisk, Jannie Van Echten-arends, Birgit Sikkema-raddatz, Johanna C. Korevaar, Harold R. Verhoeve, Niels E. A. Vogel, Eus G. J. M. Arts, Jan W.a De Vries, Patrick M.m. Bossuyt
    Abstract:

    BACKGROUND Pregnancy rates in women of advanced maternal age undergoing in vitro fertilization (IVF) are disappointingly low. It has been suggested that the use of preimplantation Genetic Screening of cleavage-stage embryos for aneuploidies may improve the ef- fectiveness of IVF in these women. METHODS We conducted a multicenter, randomized, double-blind, controlled trial comparing three cycles of IVF with and without preimplantation Genetic Screening in women 35 through 41 years of age. The primary outcome measure was ongoing pregnancy at 12 weeks of gestation. The secondary outcome measures were biochemical preg- nancy, clinical pregnancy, miscarriage, and live birth. RESULTS Four hundred eight women (206 assigned to preimplantation Genetic Screening and 202 assigned to the control group) underwent 836 cycles of IVF (434 cycles with and 402 cycles without preimplantation Genetic Screening). The ongoing-pregnancy rate was significantly lower in the women assigned to preimplantation Genetic screen- ing (52 of 206 women (25%)) than in those not assigned to preimplantation Genetic Screening (74 of 202 women (37%); rate ratio, 0.69; 95% confidence interval (CI), 0.51 to 0.93). The women assigned to preimplantation Genetic Screening also had a significantly lower live-birth rate (49 of 206 women (24%) vs. 71 of 202 women (35%); rate ratio, 0.68; 95% CI, 0.50 to 0.92). CONCLUSIONS Preimplantation Genetic Screening did not increase but instead significantly reduced the rates of ongoing pregnancies and live births after IVF in women of advanced maternal age. (Current Controlled Trials number, ISRCTN76355836.)

  • In vitro fertilization with preimplantation Genetic Screening
    Obstetrical & Gynecological Survey, 2007
    Co-Authors: Sebastiaan Mastenbroek, Moniek Twisk, Jannie Van Echten-arends, Birgit Sikkema-raddatz, Johanna C. Korevaar, Harold R. Verhoeve, Niels E. A. Vogel, Eus G. J. M. Arts, Jan W.a De Vries, Patrick M.m. Bossuyt
    Abstract:

    Both in vitro fertilization (IVF) and preimplantation Genetic Screening are being increasingly used, the latter for women of advanced maternal age. Observational studies show that, when Screening is added to IVF, implantation rates increase but rates of ongoing pregnancies do not. Some researchers believe that preimplantation Genetic Screening of cleavage-stage embryos for aneuploidies may make IVF more effective. The present multicenter, randomized, double blind, controlled trial compared 3 cycles of IVF with embryo selection based either on preimplantation Genetic Screening or on the morphologic features of the embryo. Of the 408 participants, all women ranging in age from 35 through 41 years, 206 were assigned to preimplantation Genetic Screening. Screening accompanied 434 of 836 cycles of IVF. Screening began 3 days after follicular aspiration by biopsying a single blastomere on all embryos having 4 or more blastomeres. Compared with control women, those having preimplantation Genetic Screening had a significantly lower rate of ongoing pregnancy (25% vs. 37%). The rate ratio was 0.69, with a 95% confidence interval (CI) of 0.51-0.93. Biochemical and clinical pregnancy rates also were significantly lower in the screened group, but there was no significant difference in rates of miscarriage. Women assigned to Genetic Screening had a significantly lower rate of live births than control subjects (24% vs. 35%). The rate ratio was 0.68, with a 95% CI of 0.50-0.92. Not only did preimplantation Genetic Screening fail to increase rates of ongoing pregnancy and live births following IVF in this population of older women, but observed rates were lower than in control (unscreened) women. At present, preimplantation Genetic Screening should not be routinely performed in women of advanced maternal age who undergo IVF. It is not clear whether different results would be obtained in women with indications for Genetic Screening other than advanced maternal age.

Kathy Hudson - One of the best experts on this subject based on the ideXlab platform.

  • Preimplantation Genetic Screening: a survey of in vitro fertilization clinics
    Genetics in Medicine, 2008
    Co-Authors: Susannah Baruch, David J. Kaufman, Kathy Hudson
    Abstract:

    Purpose: The purpose of this study was to determine which US in vitro fertilization clinics provide preimplantation Genetic Screening for aneuploidy in treating infertility, and to explore clinic directors' attitudes toward this technique. Methods: Online survey included 415 US assisted reproductive technology clinics. The survey had a valid response rate of 45% or 186 clinics. Results: Nearly 68% of US in vitro fertilization clinics responding to the survey provided preimplantation Genetic Screening in an effort to increase success rates of fertility treatment. More than half of these in vitro fertilization clinics (56%) provided preimplantation Genetic Screening for advanced maternal age and the same percentage provided preimplantation Genetic Screening to treat repeated in vitro fertilization failure, whereas 66% provided preimplantation Genetic Screening to treat women with repeated miscarriage. Opinions of the effectiveness of preimplantation Genetic Screening for these indications varied widely, even among those providing it. Most directors (85%) of clinics providing preimplantation Genetic Screening believed that more data are needed to determine whether and to whom it should be offered. Conclusions: Despite the lack of data supporting the use of preimplantation Genetic Screening for recurrent pregnancy loss, in vitro fertilization failure, and advanced maternal age, a majority of in vitro fertilization clinics in the United States offer preimplantation Genetic Screening for these purposes. There is significant support among clinic directors for more research into the effectiveness of preimplantation Genetic Screening and for professional guidelines in this area.

Joyce C. Harper - One of the best experts on this subject based on the ideXlab platform.

  • Preimplantation Genetic Screening
    Journal of medical screening, 2017
    Co-Authors: Joyce C. Harper
    Abstract:

    Preimplantation Genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a Genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are Genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, Screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation Genetic Screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of Screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in Genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation Genetic Screening, and three small randomised controlled trials of preimplantation Genetic Screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation Genetic Screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full Genetic code of the embryo.