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Preimplantation genetic screening

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https://www.readbyqxmd.com/read/29746572/evaluation-of-a-novel-non-invasive-preimplantation-genetic-screening-approach
#1
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach
OBJECTIVE: To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). PATIENTS: 47 embryos from 35 patients undergoing IVF. INTERVENTIONS: DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS)...
2018: PloS One
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#2
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29714058/the-impact-of-contemporary-preimplantation-genetic-screening-and-diagnosis-on-the-detection-of-aneuploidy-and-inherited-genetic-diseases
#3
REVIEW
Shelby A Neal, Marie D Werner
Pre-implantation genetic screening and diagnosis represent important tools for embryo selection in patients undergoing in vitro fertilization. Methods have evolved in recent years and it can be challenging to remain up to date on the current technology. This review article seeks to provide an overview of pre-implantation genetic screening and diagnosis methods, the associated clinical outcomes, and the limitations of this technology.
May 1, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29704227/low-estradiol-responses-in-oocyte-donors-undergoing-gonadotropin-stimulation-do-not-influence-clinical-outcomes
#4
Katherine L Palmerola, Briana J Rudick, Rogerio A Lobo
PURPOSE: To examine the effect of low and very low estradiol responses in oocyte donors receiving gonadotropins on clinical outcomes of donor in vitro fertilization (IVF) cycles and to identify possible mechanisms responsible for low estradiol response. METHODS: This is a retrospective cohort study of oocyte donors undergoing antagonist IVF cycles with progression to oocyte retrieval between January 2010 and December 2016 at a single urban academic fertility center...
April 27, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29697414/the-dilemma-of-aneuploidy-screening-on-low-responders
#5
Scott J Morin, Daniel J Kaser, Jason M Franasiak
PURPOSE OF REVIEW: Preimplantation genetic testing for aneuploidy (PGT-A) has been demonstrated to improve implantation and pregnancy rates and decrease miscarriage rates over standard morphology-based embryo selection. However, there are limited data on its efficacy in patients with diminished ovarian reserve or a poor response to stimulation who may have fewer embryos to select amongst. RECENT FINDINGS: Early findings demonstrate that PGT-A reduces the miscarriage rate and decreases the time to delivery in poor responders...
April 24, 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29619224/sperm-aneuploidy-and-dna-fragmentation-in-unexplained-recurrent-pregnancy-loss-a-multicenter-case-control-study
#6
Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan
Background: Recurrent pregnancy loss (RPL) is defined as the loss of at least three pregnancies in the first trimester. Although the most common cause is embryo aneuploidy, and despite female checkup and couple karyotyping, in about 50% of cases RPL remain unexplained. Male implication has little been investigated and results are discordant. In this context, we conducted a multi-center prospective case-control study to investigate male gamete implication in unexplained RPL. Methods: A total of 33 cases and 27 controls were included from three university hospitals...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29605407/next-generation-sequencing-for-preimplantation-genetic-screening-improves-pregnancy-outcomes-compared-with-array-comparative-genomic-hybridization-in-single-thawed-euploid-embryo-transfer-cycles
#7
Jenna Friedenthal, Susan M Maxwell, Santiago Munné, Yael Kramer, David H McCulloh, Caroline McCaffrey, James A Grifo
OBJECTIVE: To evaluate whether the use of next generation sequencing (NGS) for preimplantation genetic screening (PGS) in single thawed euploid embryo transfer (STEET) cycles improves pregnancy outcomes compared with array comparative genomic hybridization (aCGH). DESIGN: Retrospective cohort study. SETTING: Single university-based fertility center. PATIENT(S): A total of 916 STEET cycles from January 2014 to December 2016 were identified...
March 28, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29580110/current-and-future-molecular-approaches-in-the-diagnosis-of-cystic-fibrosis
#8
Anne Bergougnoux, Magali Taulan-Cadars, Mireille Claustres, Caroline Raynal
Cystic Fibrosis is among the first diseases to have general population genetic screening tests and one of the most common indications of prenatal and preimplantation genetic diagnosis for single gene disorders. During the past twenty years, thanks to the evolution of diagnostic techniques, our knowledge of CFTR genetics and pathophysiological mechanisms involved in cystic fibrosis has significantly improved. Areas covered: Sanger sequencing and quantitative methods greatly contributed to the identification of more than 2,000 sequence variations reported worldwide in the CFTR gene...
March 27, 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29566854/the-use-of-preimplantation-genetic-testing-for-aneuploidy-pgt-a-a-committee-opinion
#9
(no author information available yet)
The value of preimplantation genetic testing for aneuploidy (PGT-A) as a screening test for in vitro fertilization (IVF) patients has yet to be determined. Several studies demonstrate higher birth rates after aneuploidy testing and elective single-embryo transfer (eSET), suggesting the potential for this testing to decrease the risk of multiple gestations, though these studies have important limitations.
March 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29564832/time-lapse-imaging-for-the-detection-of-chromosomal-abnormalities-in-primate-preimplantation-embryos
#10
Brittany L Daughtry, Shawn L Chavez
The use of time-lapse microscopic imaging has proven to be a powerful tool for the study of mitotic divisions and other cellular processes across diverse species and cell types. Although time-lapse monitoring (TLM) of human preimplantation development was first introduced to the in vitro fertilization (IVF) community several decades ago, it was not until relatively recently that TLM systems were commercialized for clinical embryology purposes. Traditionally, human IVF embryos are assessed by successful progression and morphology under a stereomicroscope at distinct time points prior to selection for transfer...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29461486/from-prenatal-to-preimplantation-genetic-diagnosis-of-%C3%AE-thalassemia-prevention-model-in-8748-cases-40-years-of-single-center-experience
#11
REVIEW
Giovanni Monni, Cristina Peddes, Ambra Iuculano, Rosa Maria Ibba
The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years...
February 20, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29453426/importance-of-embryo-aneuploidy-screening-in-preimplantation-genetic-diagnosis-for-monogenic-diseases-using-the-karyomap-gene-chip
#12
Gang Li, Wenbin Niu, Haixia Jin, Jiawei Xu, Wenyan Song, Yihong Guo, Yingchun Su, Yingpu Sun
We investigated the incidence of aneuploidy in embryos from couples carrying monogenic diseases and the effect of embryo aneuploidy screening on the monogenic disease preimplantation genetic diagnosis (PGD). From November 2014 to April 2017, 36 couples carrying monogenic diseases were enrolled. The karyomap gene chip technique was used to analyze the blastocysts from the subjects and select normal embryos for transfer. A total of 43 single-gene PGD cycles were performed. A total of 687 eggs were obtained and 186 blastocysts were biopsed...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29452698/are-cleavage-anomalies-multinucleation-or-specific-cell-cycle-kinetics-observed-with-time-lapse-imaging-predictive-of-embryo-developmental-capacity-or-ploidy
#13
Nina Desai, Jeffrey M Goldberg, Cynthia Austin, Tommaso Falcone
OBJECTIVE: To determine whether cleavage anomalies, multinucleation, and specific cellular kinetic parameters available from time-lapse imaging are predictive of developmental capacity or blastocyst chromosomal status. DESIGN: Retrospective analysis of prospectively collected data. SETTING: Single academic center. PATIENT(S): A total of 1,478 zygotes from patients with blastocysts biopsied for preimplantation genetic screening were cultured in the EmbryoScope...
April 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29433970/an-evidence-based-scoring-system-for-prioritizing-mosaic-aneuploid-embryos-following-preimplantation-genetic-screening
#14
Francesca Romana Grati, Gloria Gallazzi, Lara Branca, Federico Maggi, Giuseppe Simoni, Yuval Yaron
The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic aneuploid embryos for transfer. A retrospective analysis was performed of all sequential cytogenetic and molecular results on chorionic villi samples (n = 72,472) and products of conception (n = 3806) analysed at a single centre. The likelihood that a mosaic aneuploidy detected in chorionic villi samples will involve the fetus, the incidence of clinically significant fetal uniparental disomy in the presence of a mosaic in chorionic villi and the chance of the mosaicism culminating in miscarriage were used to generate a scoring system for prioritizing mosaic aneuploid embryos detected by preimplantation genetic screening...
April 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29428313/clinical-outcomes-in-carriers-of-complex-chromosomal-rearrangements-a-retrospective-analysis-of-comprehensive-chromosome-screening-results-in-seven-cases
#15
Liang Hu, Yajing Wei, Keli Luo, Pingyuan Xie, Fei Gong, Bo Xiong, Yueqiu Tan, Guangxiu Lu, Ge Lin
OBJECTIVE: To evaluate the clinical outcomes in carriers of complex chromosomal rearrangements (CCRs). DESIGN: Case series. SETTING: An institute for reproductive and stem cell engineering. PATIENT(S): Seven couples with CCRs. INTERVENTION(S): Assisted reproduction with preimplantation genetic diagnosis (PGD). MAIN OUTCOME MEASURE(S): PGD results, embryo rating, pregnancy outcomes...
March 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29428306/cumulus-cell-transcriptome-profiling-is-not-predictive-of-live-birth-after-in-vitro-fertilization-a-paired-analysis-of-euploid-sibling-blastocysts
#16
Katherine A Green, Jason M Franasiak, Marie D Werner, Xin Tao, Jessica N Landis, Richard T Scott, Nathan R Treff
OBJECTIVE: To compare the transcriptome of cumulus cells associated with a euploid embryo that resulted in live birth with that of a sibling euploid embryo without sustained implantation. DESIGN: Paired analysis. SETTING: Academic institution. PATIENT(S): Couples undergoing in vitro fertilization (IVF)/intracytoplasmic sperm injection with preimplantation genetic screening with female age ≤42 years and normal ovarian reserve...
March 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29428279/preimplantation-genetic-screening-and-preimplantation-genetic-diagnosis
#17
REVIEW
Chantae Sullivan-Pyke, Anuja Dokras
Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29398421/can-time-lapse-parameters-predict-embryo-ploidy-a-systematic-review
#18
REVIEW
Arnaud Reignier, Jenna Lammers, Paul Barriere, Thomas Freour
Embryo morphology assessment performs relatively poorly in predicting implantation. Embryo aneuploidy screening (PGS) has recently improved, but its clinical value is still debated, and the development of a cheap non-invasive method for the assessment of embryo ploidy status is a highly desirable goal. The growing implementation of time-lapse devices led some teams to test the effectiveness of morphokinetic parameters as predictors of embryo ploidy, with conflicting results. The aim of this study was to conduct a comprehensive review of the literature on the predictive value of morphokinetic parameters for embryo ploidy status...
April 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29373990/targeted-next-generation-sequencing-analysis-in-couples-at-increased-risk-for-autosomal-recessive-disorders
#19
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
BACKGROUND: Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare but have recurrence risks of 25% in the same family. Often, affected children (or fetuses) die before a genetic diagnosis can be established, post-mortem analysis and phenotypic descriptions are insufficient and DNA from affected fetuses or children is not available for later analysis...
January 26, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29373974/degree-of-mosaicism-in-trophectoderm-does-not-predict-pregnancy-potential-a-corrected-analysis-of-pregnancy-outcomes-following-transfer-of-mosaic-embryos
#20
Vitaly A Kushnir, Sarah K Darmon, David H Barad, Norbert Gleicher
BACKGROUND: Preimplantation genetic screening (PGS) is increasingly utilized as an adjunct procedure to IVF. Recently healthy euploid live birth were reported following transfer of mosaic embryos. Several recent publications have surmised that the degree of trophectoderm (TE) mosaicism in transferred embryos is predictive of ongoing pregnancy and miscarriage rates. METHODS: This is a corrected analysis of previously published retrospective data on vitro fertilization (IVF) cycle outcomes involving replacement of 143 mosaic and 1045 euploid embryos tested by PGS, utilizing high-resolution next-generation sequencing (NGS) of TE and determination of percentages of mosaicism...
January 26, 2018: Reproductive Biology and Endocrinology: RB&E
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