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Preimplantation genetic diagnosis

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https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#1
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27868395/genetic-diagnosis-in-hemophilia-a-from-southern-china-five-novel-mutations-and-one-preimplantation-genetic-analysis
#2
J Chen, J Wang, X Y Lin, Y W Xu, Z H He, H Y Li, S Q Chen, W Y Jiang
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier subjects, three fetuses, and one PGD were included in this study...
November 21, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27858211/factors-influencing-the-decision-making-process-and-long-term-interpersonal-outcomes-for-parents-who-undergo-preimplantation-genetic-diagnosis-for-fanconi-anemia-a-qualitative-investigation
#3
K Haude, P McCarthy Veach, B LeRoy, H Zierhut
Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen (HLA) identical matches. Preimplantation genetic diagnosis (PGD) offers parents of an affected child the opportunity to have an unaffected child who is an HLA match. While some research has investigated parents' experiences during the PGD process, no published studies specifically address factors influencing their decision-making process and long-term interpersonal outcomes...
November 17, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27855520/novel-technologies-emerging-for-preimplantation-genetic-diagnosis-and-preimplantation-genetic-testing-for-aneuploidy
#4
Karen Sermon
Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer...
December 1, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27842993/diagnosis-and-clinical-management-of-embryonic-mosaicism
#5
REVIEW
Nidhee M Sachdev, Susan M Maxwell, Andria G Besser, James A Grifo
Embryonic mosaicism occurs when two or more cell populations with different genotypes are present within the same embryo. New diagnostic techniques for preimplantation genetic screening (PGS), such as next-generation sequencing, have led to increased reporting of mosaicism. The interpretation of mosaicism is complicated because the transfer of some mosaic embryos has resulted in live births. Mosaic embryos may represent a third category between normal (euploidy) and abnormal (aneuploidy). This category of mosaic embryos may be characterized by decreased implantation and pregnancy potential as well as increased risk of genetic abnormalities and adverse pregnancy outcomes...
November 11, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27833086/comparative-study-of-single-nucleotide-polymorphism-array-and-next-generation-sequencing-based-strategies-on-triploid-identification-in-preimplantation-genetic-diagnosis-and-screen
#6
Jiawei Xu, Wenbin Niu, Zhaofeng Peng, Xiao Bao, Meixiang Zhang, Linlin Wang, Linqing Du, Nan Zhang, Yingpu Sun
Triploidy occurred about 2-3% in human pregnancies and contributed to approximately 15% of chromosomally caused human early miscarriage. It is essential for preimplantation genetic diagnosis and screen to distinct triploidy sensitively. Here, we performed comparative investigations between MALBAC-NGS and MDA-SNP array sensitivity on triploidy detection. Self-correction and reference-correction algorism were used to analyze the NGS data. We identified 5 triploid embryos in 1198 embryos of 218 PGD and PGS cycles using MDA-SNP array, the rate of tripoidy was 4...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27822654/number-of-blastocysts-biopsied-as-a-predictive-indicator-to-obtain-at-least-one-normal-balanced-embryo-following-preimplantation-genetic-diagnosis-with-single-nucleotide-polymorphism-microarray-in-translocation-cases
#7
Yi-Zi Wang, Chen-Hui Ding, Jing Wang, Yan-Hong Zeng, Wen Zhou, Rong Li, Can-Quan Zhou, Ming-Fen Deng, Yan-Wen Xu
PURPOSE: The aim of this study is to investigate the minimum number of blastocysts for biopsy to increase the likelihood of obtaining at least one normal/balanced embryo in preimplantation genetic diagnosis (PGD) for translocation carriers. METHODS: This blinded retrospective study included 55 PGD cycles for Robertsonian translocation (RT) and 181 cycles for reciprocal translocation (rcp) to indicate when only one of the couples carried a translocation. Single-nucleotide polymorphism microarray after trophectoderm biopsy was performed...
November 7, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#8
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
November 4, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27803589/embryo-genome-profiling-by-single-cell-sequencing-for-successful-preimplantation-genetic-diagnosis-in-a-family-harboring-col4a1-c-1537g-a-p-g513s-mutation
#9
Nayana H Patel, Harsha K Bhadarka, Kruti B Patel, Salil N Vaniawala, Arpan Acharya, Pratap N Mukhopadhyaya, Nilofar R Sodagar
CONTEXT: Genetic profiling of embryos (also known as preimplantation genetic diagnosis) before implantation has dramatically enhanced the success quotient of in vitro fertilization (IVF) in recent times. The technology helps in avoiding selective pregnancy termination since the baby is likely to be free of the disease under consideration. AIM: Screening of embryos free from c.1537G>A; p.G513S mutation within the COL4A1 gene for which the father was known in before be in heterozygous condition...
July 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/27796678/reproductive-decision-making-in-women-with-brca1-2-mutations
#10
Jessica L Chan, Lauren N C Johnson, Mary D Sammel, Laura DiGiovanni, Chan Voong, Susan M Domchek, Clarisa R Gracia
Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer...
October 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27793378/translocations-inversions-and-other-chromosome-rearrangements
#11
REVIEW
Scott J Morin, Jennifer Eccles, Amanda Iturriaga, Rebekah S Zimmerman
Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27793373/preimplantation-genetic-diagnosis-for-chromosomal-rearrangements-with-the-use-of-array-comparative-genomic-hybridization-at-the-blastocyst-stage
#12
Christodoulos Christodoulou, Annelies Dheedene, Björn Heindryckx, Filip van Nieuwerburgh, Dieter Deforce, Petra De Sutter, Björn Menten, Etienne Van den Abbeel
OBJECTIVE: To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. DESIGN: Retrospective data analysis study. SETTING: Academic centers for reproductive medicine and genetics. PATIENT(S): Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27766963/associations-of-recurrent-miscarriages-with-chromosomal-abnormalities-thrombophilia-allelic-polymorphisms-and-or-consanguinity-in-saudi-arabia
#13
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/27766059/preimplantation-genetic-diagnosis-of-hemophilia-a
#14
Ming Chen, Shun-Ping Chang, Gwo-Chin Ma, Wen-Hsian Lin, Hsin-Fu Chen, Shee-Uan Chen, Horng-Der Tsai, Feng-Po Tsai, Ming-Ching Shen
Preimplantation genetic diagnosis (PGD) is a powerful tool to tackle the transmission of monogenic inherited disorders in families carrying the diseases from generation to generation. It currently remains a challenging task, despite PGD having been developed over 25 years ago. The major difficulty is it does not have an easy and general formula for all mutations. Different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scanty, whereas timely laboratory diagnosis is mandatory if fresh embryo transfer is desired occasionally...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27743815/reproductive-medicine-involving-genome-editing-clinical-uncertainties-and-embryological-needs
#15
Tetsuya Ishii
Genome editing based on site-directed nucleases facilitated efficient and versatile genetic modifications in human cells. However, recent reports, demonstrating CRISPR/Cas9-mediated genome editing in human embryos have raised profound concerns worldwide. This commentary explores the clinical justification and feasibility of reproductive medicine using germline genome editing. Despite the perceived utility of reproductive medicine for treating intractable infertility, it is difficult to justify germline genome editing from the perspective of the prospective child...
October 5, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27734074/application-of-a-molecular-diagnostic-algorithm-for-haemophilia-a-and-b-using-next-generation-sequencing-of-entire-f8-f9-and-vwf-genes
#16
Jose Maria Bastida Bermeja, Jose Ramon González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R Ordoñez, Maria Teresa Álvarez-Román, M Elena Fontecha, Kamila Janusz, David Castillo, Rosa María Fisac, Luis Javier García-Frade, Carlos Aguilar, María Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Manuel Martin-Antorán, Rafael Ramos, Maria Jose Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Carmen Mendoza, Ana Benito, Ana Hortal Benito-Sendin, Víctor Jiménez-Yuste, Jesus Maria Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Eugenia Sarasquete
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes...
October 13, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27720366/causes-and-estimated-incidences-of-sex-chromosome-misdiagnosis-in-preimplantation-genetic-diagnosis-of-aneuploidy
#17
Krithika Ravichandran, Luis Guzman, Tomas Escudero, Xuezhong Zheng, Pere Colls, Amy Jordan, Jacques Cohen, Dagan Wells, Santiago Munné
Preimplantation genetic diagnosis of aneuploidy (PGD-A) with comprehensive chromosome analysis has been known to improve pregnancy outcomes. Accuracy in detecting sex chromosomes becomes important when selecting against embryos at risk for sex-linked disorders. A total of 21,356 PGD-A cycles consisting of day-3 (cleavage) or day-5 (blastocyst) biopsies were received at the same laboratory for PGD-A via fluorescence in situ hybridization (FISH) or array comparative genome hybridization (aCGH) from multiple fertility centres...
August 20, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27696105/blastomere-biopsy-for-pgd-delays-embryo-compaction-and-blastulation-a-time-lapse-microscopic-analysis
#18
Liron Bar-El, Yael Kalma, Mira Malcov, Tamar Schwartz, Shaul Raviv, Tania Cohen, Hadar Amir, Yoni Cohen, Adi Reches, Ami Amit, Dalit Ben-Yosef
PURPOSE: The purpose of the study was to explore the effect of blastomere biopsy for preimplantation genetic diagnosis (PGD) on the embryos' dynamics, further cleavage, development, and implantation. METHODS: The study group included 366 embryos from all PGD treatments (September 2012 to June 2014) cultured in the EmbryoScope™ time-lapse monitoring system. The control group included all intracytoplasmic sperm injection (ICSI) embryos cultured in EmbryoScope™ until day 5 during the same time period (385 embryos)...
October 1, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27689416/attitudes-in-patients-with-autosomal-dominant-polycystic-kidney-disease-toward-prenatal-diagnosis-and-preimplantation-genetic-diagnosis
#19
Oscar Swift, Enric Vilar, Belinda Rahman, Lucy Side, Daniel P Gale
AIMS: No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. METHODS: Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units...
September 30, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27677417/differential-expression-of-parental-alleles-of-brca1-in-human-preimplantation-embryos
#20
Pinar Tulay, Alpesh Doshi, Paul Serhal, Sioban B SenGupta
Gene expression from both parental genomes is required for completion of embryogenesis. Differential methylation of each parental genome has been observed in mouse and human preimplantation embryos. It is possible that these differences in methylation affect the level of gene transcripts from each parental genome in early developing embryos. The aim of this study was to investigate if there is a parent-specific pattern of BRCA1 expression in human embryos and to examine if this affects embryo development when the embryo carries a BRCA1 or BRCA2 pathogenic mutation...
September 28, 2016: European Journal of Human Genetics: EJHG
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