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PGD in pregnancy recurrency loss

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https://www.readbyqxmd.com/read/27766963/associations-of-recurrent-miscarriages-with-chromosomal-abnormalities-thrombophilia-allelic-polymorphisms-and-or-consanguinity-in-saudi-arabia
#1
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27193217/reproductive-outcomes-following-preimplantation-genetic-diagnosis-using-fluorescence-in-situ-hybridization-for-52-translocation-carrier-couples-with-a-history-of-recurrent-pregnancy-loss
#2
Keiichi Kato, Naoki Aoyama, Nami Kawasaki, Hiroko Hayashi, Tang Xiaohui, Takashi Abe, Tomoko Kuroda
Forty-six reciprocal and six Robertsonian translocation carrier couples who experienced recurrent pregnancy loss underwent fluorescence in situ hybridization-based preimplantation genetic diagnosis (PGD) for the presence of the two translocated chromosomes. Out of 52 couples, 17 (33%) were undergoing infertility treatment. In total, 239 PGD cycles as oocyte retrieval (OR) were applied. The transferrable rate of negatively diagnosed embryos at the cleavage stage was 26.3%; 71 embryos were transferred as single blastocysts...
August 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27164286/-first-in-the-world-application-of-next-generation-sequencing-in-preimplantation-genetic-diagnostics-in-clinical-practice-a-case-report
#3
Krzysztof Łukaszuk, Agnieszka Kuczyńska, Sebastian Pukszta, Paweł Kuć, Waldemar Kuczyński, Jakub Łukaszuk, Joanna Liss, Izabela Wocławek-Potocka
Preimplantation genetic diagnosis (PGD) is a well established method for detecting genetic abnormalities during the course of infertility treatment, resulting in thousands of healthy newborns delivered worldwide. PGD with next generation sequencing (NGS) provides new possibilities for diagnosis and new parameters for evaluation. The use of next-generation DNA sequencing technique has lead to great progress in the human genome analysis. The aim of this study was molecular analysis using next generation sequencing technique of embryos from a couple suffering from recurrent pregnancy losses...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/26854690/evaluation-of-1100-couples-with-recurrent-pregnancy-loss-using-conventional-cytogenetic-pgd-and-pgs-hype-or-hope
#4
Kamelia Farahmand, Hamid Kalantari, Mostafa Fakhri, Abolhasan Shahzadeh Fazeli, Shabnam Zari Moradi, Navid Almadani, Mehrdad Hashemi, Hamid Gourabi, Anahita Mohseni-Meybodi
Recurrent pregnancy loss (RPL) is an important clinical problem, mostly resulting from chromosomal or genetic defects, while in 30-60% of cases, it is idiopathic. The aim of this study is to evaluate the frequency and types of chromosomal abnormalities, also pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) outcomes among Iranian couples with RPL. This retrospective study was conducted on 1100 Iranian couples (2200 individuals) with RPL referred to Royan Institute between 2008 and 2014...
June 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/26083495/preimplantation-genetic-diagnosis-and-natural-conception-a-comparison-of-live-birth-rates-in-patients-with-recurrent-pregnancy-loss-associated-with-translocation
#5
COMPARATIVE STUDY
Shinichiro Ikuma, Takeshi Sato, Mayumi Sugiura-Ogasawara, Motoi Nagayoshi, Atsushi Tanaka, Satoru Takeda
BACKGROUND: Established causes of recurrent pregnancy loss (RPL) include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations, and abnormal embryonic karyotypes. The number of centers performing preimplantation genetic diagnosis (PGD) for patients with translocations has steadily increased worldwide. The live birth rate with PGD was reported to be 27-54%. The live birth rate with natural conception was reported to be 37-63% on the first trial and 65-83% cumulatively...
2015: PloS One
https://www.readbyqxmd.com/read/25438679/is-preimplantation-genetic-diagnosis-the-ideal-embryo-selection-method-in-aneuploidy-screening
#6
REVIEW
Levent Sahin, Murat Bozkurt, Hilal Sahin, Aykut Gürel, Ayse Ender Yumru
To select cytogenetically normal embryos, preimplantation genetic diagnosis (PGD) aneuploidy screening (AS) is used in numerous centers around the world. Chromosomal abnormalities lead to developmental problems, implantation failure, and early abortion of embryos. The usefulness of PGD in identifying single-gene diseases, human leukocyte antigen typing, X-linked diseases, and specific genetic diseases is well-known. In this review, preimplantation embryo genetics, PGD research studies, and the European Society of Human Reproduction and Embryology PGD Consortium studies and reports are examined...
October 2014: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/22161460/management-of-recurrent-pregnancy-loss-associated-with-a-parental-carrier-of-a-reciprocal-translocation-a-systematic-review
#7
REVIEW
Jennifer Hirshfeld-Cytron, Mayumi Sugiura-Ogasawara, Mary D Stephenson
This study reviews systematically the effectiveness of management strategies for carriers of a reciprocal translocation involving two chromosomes, ascertained on the basis of recurrent pregnancy loss. Subsequent pregnancy outcomes were tabulated based on whether management was medical or involved in vitro fertilization/preimplantation genetic diagnosis (IVF/PGD). A total of 129 cases from 13 articles met the criteria, of which 89% were managed medically. Before management, the overall live birthrate was 4% (19 of 484 pregnancies)...
November 2011: Seminars in Reproductive Medicine
https://www.readbyqxmd.com/read/21224285/cellular-and-genetic-analysis-of-oocytes-and-embryos-in-a-human-case-of-spontaneous-oocyte-activation
#8
Catherine M H Combelles, William G Kearns, Janis H Fox, Catherine Racowsky
Unusual and consistent defects in infertility patients merit attention as these may indicate an underlying genetic abnormality, in turn necessitating tailored management strategies. We describe a case of repeated early pregnancy loss from in vivo conceptions, followed by cancelled embryo transfers after one IVF and one ICSI/PGD cycle. Following the unexpected presence of cleaved embryos at the fertilization check in the first IVF attempt, oocytes and embryos were subsequently analyzed in an ICSI/PGD case. Part of the oocyte cohort was fixed at retrieval for a cellular evaluation of microtubules, microfilaments and chromatin...
March 2011: Human Reproduction
https://www.readbyqxmd.com/read/20164020/rapid-mapping-of-chromosomal-breakpoints-from-blood-to-bac-in-20-days
#9
Chun-Mei Lu, Johnson Kwan, Jingly F Weier, Adolf Baumgartner, Mei Wang, Tomas Escudero, Santiago Munné, Heinz-Ulrich G Weier
Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to select healthy germ cells or balanced zygotes in vivo, but in vitro fertilization (IVF) followed by preimplantation genetic diagnosis (PGD) offers translocation carriers a chance to select balanced or normal embryos for transfer...
January 2009: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/20034626/preimplantation-genetic-diagnosis-pgd-improves-pregnancy-outcome-for-translocation-carriers-with-a-history-of-recurrent-losses
#10
COMPARATIVE STUDY
Jill Fischer, Pere Colls, Tomas Escudero, Santiago Munné
OBJECTIVE: To determine if preimplantation genetic diagnosis (PGD) for translocation carriers with three or more pregnancy losses reduces loss rates. DESIGN: Retrospective review of data. SETTING: Preimplantation genetic diagnosis laboratory servicing IVF groups. PATIENT(S): Patients (n = 192) undergoing PGD for either a reciprocal translocation or Robertsonian translocation who had three or more previous pregnancy losses...
June 2010: Fertility and Sterility
https://www.readbyqxmd.com/read/19904299/single-sperm-analysis-for-recurrence-risk-assessment-of-spinal-muscular-atrophy
#11
Philippe Burlet, Nadine Gigarel, Maryse Magen, Séverine Drunat, Alexandra Benachi, Laetitia Hesters, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
With the detection of a homozygous deletion of the survival motor neuron 1 gene (SMN1), prenatal and preimplantation genetic diagnosis (PGD) for spinal muscular atrophy has become feasible and widely applied. The finding of a de novo rearrangement, resulting in the loss of the SMN1 gene, reduces the recurrence risk from 25% to a lower percentage, the residual risk arising from recurrent de novo mutation or germline mosaicism. In a couple referred to our PGD center because their first child was affected with SMA, the male partner was shown to carry two SMN1 copies...
April 2010: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/19411132/preimplantation-genetic-diagnosis-state-of-the-art
#12
REVIEW
Claire Basille, René Frydman, Abdelwahab El Aly, Laetitia Hesters, Renato Fanchin, Gérard Tachdjian, Julie Steffann, Marc LeLorc'h, Nelly Achour-Frydman
Preimplantation genetic diagnosis (PGD) is used to analyze embryos genetically before their transfer into the uterus. It was developed first in England in 1990, as part of progress in reproductive medicine, genetic and molecular biology. PGD offers couples at risk the chance to have an unaffected child, without facing termination of pregnancy. Embryos are obtained by in vitro fertilization with intracytoplasmic sperm injection (ICSI), and are biopsied mostly on day 3; blastocyst biopsy is mentioned as a possible alternative...
July 2009: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/18692844/effect-of-infertility-maternal-age-and-number-of-previous-miscarriages-on-the-outcome-of-preimplantation-genetic-diagnosis-for-idiopathic-recurrent-pregnancy-loss
#13
John G Garrisi, Pere Colls, Kathleen M Ferry, Xhezong Zheng, Margarett G Garrisi, Santiago Munné
OBJECTIVE: To determine whether preimplantation genetic diagnosis (PGD) would decrease spontaneous abortion rates in patients with idiopathic recurrent pregnancy loss (RPL). DESIGN: Controlled clinical study. SETTING: IVF center and PGD reference laboratory. PATIENT(S): Patients with RPL with no known etiology. INTERVENTION(S): Preimplantation genetic diagnosis by fluorescence in situ hybridization analyzing nine chromosomes...
July 2009: Fertility and Sterility
https://www.readbyqxmd.com/read/18536046/preimplantation-genetic-diagnosis-for-complex-chromosome-rearrangements
#14
T Escudero, A Estop, J Fischer, S Munne
Complex chromosome rearrangements (CCR) are structural rearrangements that involve more than two breakpoints. The most common ones involve three chromosomes and three breakpoints, but double translocations can also occur. Theoretically, the potential for chromosome imbalance in the gametes of CCR carriers is higher than for simple translocations, and thus they are at an even higher risk of recurrent miscarriage. Preimplantation genetic diagnosis (PGD) has been shown to significantly reduce the risk of repeated pregnancy loss in translocation carriers, and thus it is well indicated for CCR...
July 1, 2008: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/17169213/preimplantation-genetic-diagnosis-significantly-improves-the-pregnancy-outcome-of-translocation-carriers-with-a-history-of-recurrent-miscarriage-and-unsuccessful-pregnancies
#15
Tetsuo Otani, Muriel Roche, Miho Mizuike, Pere Colls, Tomas Escudero, Santiago Munné
Preimplantation genetic diagnosis (PGD) for translocations has been shown to significantly reduce the risk of recurrent miscarriage, but because the majority of embryos produced are unbalanced, pregnancy rate is relatively low since 20% or more cycles have no normal or balanced embryos to transfer. The purpose of this study was to evaluate whether PGD could improve pregnancy outcome in translocation carriers with a history of two or more consecutive miscarriages and no live births. PGD for translocations was offered to translocation carriers with two or more previous miscarriages (average 3...
December 2006: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/16820107/embryo-aneuploidy-screening-for-repeated-implantation-failure-and-unexplained-recurrent-miscarriage
#16
REVIEW
N Findikli, S Kahraman, Y Saglam, C Beyazyurek, S Sertyel, G Karlikaya, H Karagozoglu, B Aygun
Among other factors, chromosomal abnormalities that originate from gametogenesis and preimplantation embryonic development are thought to be one of the major contributing factors for early embryonic death and failure of pregnancy. However, so far, no non-invasive technique exists that allows the detection of the chromosomal complement of an oocyte or a developing embryo as a whole. Rather, by removing polar bodies/blastomeres, recent developments on preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) have paved the way to detect and possibly eliminate the majority of chromosomally abnormal embryos, thereby increasing the chance of a healthy pregnancy...
July 2006: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/16445790/preimplantation-genetic-diagnosis-of-skin-fragility-ectodermal-dysplasia-syndrome
#17
H Fassihi, J Grace, A Lashwood, N V Whittock, P R Braude, S J Pickering, J A McGrath
Skin fragility-ectodermal dysplasia syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the desmosomal protein, plakophilin 1. Clinically, there may be considerable morbidity from extensive skin erosions and painful fissures on the palms and soles. In the absence of any specific treatment, prenatal diagnosis is an option for couples at reproductive risk of recurrence. In 2000, we developed and applied a single cell nested polymerase chain reaction protocol to test one couple for compound heterozygous plakophilin 1 gene mutations by preimplantation genetic diagnosis (PGD)...
March 2006: British Journal of Dermatology
https://www.readbyqxmd.com/read/16412730/preimplantation-genetic-diagnosis-does-not-increase-pregnancy-rates-in-patients-at-risk-for-aneuploidy
#18
REVIEW
Lora K Shahine, Marcelle I Cedars
OBJECTIVE: To investigate the use of preimplantation genetic diagnosis (PGD) as a method for increasing pregnancy success rates in patients at high risk for aneuploidy. DESIGN: Literature review and discussion of current evidence. CONCLUSION(S): Preimplantation genetic diagnosis selects euploid embryos for transfer in assisted reproduction. Some investigators argue that it might be used to increase pregnancy rates in patient populations at high risk of aneuploidy, such as those with advanced maternal age (AMA), recurrent pregnancy loss (RPL), and recurrent IVF failure...
January 2006: Fertility and Sterility
https://www.readbyqxmd.com/read/16084873/preimplantation-genetic-diagnosis-reduces-pregnancy-loss-in-women-aged-35-years-and-older-with-a-history-of-recurrent-miscarriages
#19
COMPARATIVE STUDY
Santiago Munné, Serena Chen, Jill Fischer, Pere Colls, Xuezong Zheng, John Stevens, Tomas Escudero, Maria Oter, Bill Schoolcraft, Joe Leigh Simpson, Jacques Cohen
OBJECTIVE: To determine whether preimplantation genetic diagnosis (PGD) and transfer of euploid embryos would decrease spontaneous abortion rates in recurrent miscarriage (RM) patients. DESIGN: Controlled clinical study. SETTING: In vitro fertilization centers and PGD reference laboratory. PATIENT(S): Recurrent-miscarriage patients with three or more prior lost pregnancies with no known etiology. INTERVENTION(S): Biopsy of a single blastomere from each day 3 embryo, followed by fluorescence in situ hybridization analysis...
August 2005: Fertility and Sterility
https://www.readbyqxmd.com/read/15901461/strategies-for-preimplantation-genetic-diagnosis-of-angelman-syndrome-caused-by-mutations-in-the-ube3a-gene
#20
A Girardet, A Moncla, S Hamamah, M Claustres
Angelman syndrome (AS) is a neurodevelopmental disorder associated with the loss of maternal gene expression in chromosome region 15q11-q13. AS is caused by a wide variety of genetic mechanisms, including mutations in the UBE3A gene that have been identified in 10-15% of patients; when the mother is heterozygous for the causative mutation, the risk of recurrence in subsequent pregnancies is 50%. The present authors have developed a preimplantation genetic diagnosis (PGD) assay for a family displaying a 10 bp deletion in exon 9 of the UBE3A gene, which was shared by two affected children and their phenotypically normal mother...
April 2005: Reproductive Biomedicine Online
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