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PGD in pregnancy recurrency loss

Mahmoud Iews, Justin Tan, Omur Taskin, Sukainah Alfaraj, Faten F AbdelHafez, Ahmed H Abdellah, Mohamed A Bedaiwy
Recurrent pregnancy loss (RPL) is a common, yet elusive, complication of pregnancy. Among couples at high risk of RPL, such as those carrying a structural chromosomal rearrangement, preimplantation genetic diagnosis (PGD) has been proposed as a tool to improve live birth rates and reduce the incidence of miscarriage; however, no clear consensus has been reached on its benefits in this population. This systematic review summarizes existing published research on the effect of PGD on pregnancy outcomes among carriers of chromosomal abnormalities with RPL...
March 15, 2018: Reproductive Biomedicine Online
Savanie Maithripala, Ursula Durland, Jon Havelock, Sonya Kashyap, Jason Hitkari, Justin Tan, Mahmoud Iews, Sarka Lisonkova, Mohamed A Bedaiwy
OBJECTIVE: Parental carriers of balanced structural chromosomal rearrangements such as reciprocal or Robertsonian translocations are at increased risk of recurrent pregnancy loss (RPL) due to the production of gametes with unbalanced non-viable chromosome variants. As a purported means of improving reproductive outcomes in this population, IVF and preimplantation genetic diagnosis (PGD) have been introduced as an alternative to natural conception and prenatal diagnosis. In this study, we evaluate the prevalence and treatment choices of couples with structural chromosomal rearrangement referred to a tertiary care RPL clinic...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Ahter Tanay Tayyar, Ahmet Tayyar, Ahmet Eser, Çetin Kılıçcı, İlter Yenidede, Selçuk Selçuk
Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype...
October 2, 2017: Organogenesis
Maor Kabessa, Avi Harlev, Michael Friger, Ruslan Sergienko, Baila Litwak, Arie Koifman, Naama Steiner, Asher Bashiri
BACKGROUND: Recurrent pregnancy loss (RPL) is defined by two or more failed clinical pregnancies. Three to four percent of the couples with RPL have chromosomal aberrations (CA) in at least one partner. The parent's structural chromosomal abnormalities may cause an unbalanced karyotype in the conceptus which could lead to implantation failure, early or late pregnancy loss, or delivery of a child with severe physical and/or mental disabilities. OBJECTIVE: To compare live birth rates of couples with CA to couples with normal karyotypes and to investigate medical and obstetric characteristics and pregnancy outcomes of couples with CA and RPL who attend an RPL clinic at a tertiary hospital...
June 26, 2017: Journal of Perinatal Medicine
Sandrine Chamayou, Maria Sicali, Carmelita Alecci, Carmen Ragolia, Annalisa Liprino, Daniela Nibali, Giorgia Storaci, Antonietta Cardea, Antonino Guglielmino
PURPOSE: In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together with previously accumulated vitrified oocytes. METHODS: Sixty-nine patients with normal ovarian reserve underwent PGD-A for repeated implantation failure or recurrent pregnancy loss indication...
April 2017: Journal of Assisted Reproduction and Genetics
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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