4,438 results match your criteria Preimplantation Genetic Diagnosis


Metabolic Fingerprinting of Chorionic Villous Samples in Normal Pregnancy and Chromosomal Disorders.

Prenat Diagn 2019 Apr 17. Epub 2019 Apr 17.

Department of Prenatal and Preimplantation Genetic Diagnosis and Fetal Therapy, Ospedale Pediatrico Microcitemico A.Cao, Cagliari, Italy.

Objective: Placenta-related biological samples are used in biomedical research to investigate placental development. Metabolomics represents a promising approach for studying placental metabolism in an effort to explain physiological and pathological mechanisms. The aim of this study was to investigate metabolic changes in chorionic villi during the first trimester of pregnancy in euploid and aneuploid cases. Read More

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http://dx.doi.org/10.1002/pd.5461DOI Listing

Do serum androgens influence blastocysts ploidy in karyotypically normal women?

Syst Biol Reprod Med 2019 Apr 17:1-7. Epub 2019 Apr 17.

a INVICTA Fertility and Reproductive Center , Warsaw , Poland.

The aim of the study was to determine if serum testosterone (T) and dehydroepiandrosterone (DHEAS) levels are a factor in determining increased risk for embryonic aneuploidy in karyotypically normal women undergoing in vitro fertilization (IVF) and preimplantation genetic testing screening for aneuploidy (PGT-A). This is a retrospective cohort study of IVF cycles with PGT-A performed during 2015-2016. A total of 256 cycles with 725 embryos were initially considered for inclusion. Read More

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https://www.tandfonline.com/doi/full/10.1080/19396368.2019.1
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http://dx.doi.org/10.1080/19396368.2019.1601295DOI Listing
April 2019
1 Read

Next generation sequencing in recurrent pregnancy loss-approaches and outcomes.

Eur J Med Genet 2019 Apr 13. Epub 2019 Apr 13.

Department of Pathology and Laboratory Medicine, University of British Columbia and, Child and Family Research Institute, 950 West 28th, Vancouver BC, Canada. Electronic address:

Next generation sequencing (NGS) has revolutionized the diagnosis of postnatal genetic diseases, but so far has been used less frequently to study reproductive disorders. Here we provide an overview of approaches and outcomes of genome sequencing for identifying causes of recurrent pregnancy loss (RPL). This includes exome sequencing to look for pathogenic sequence changes in the whole exome or in a preselected list of genes considered important for early embryonic development and pregnancy maintenance, as well as low coverage whole genome sequencing useful for identifying cryptic balanced chromosome rearrangements and copy number variants (CNVs) in couples with RPL and miscarriages. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.04.001DOI Listing
April 2019
1 Read

Cytogenetic and molecular characterization of an oligoasthenozoospermia male carrier of an unbalanced Y;22 translocation: A case report.

Medicine (Baltimore) 2019 Apr;98(15):e15209

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital.

Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Read More

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http://dx.doi.org/10.1097/MD.0000000000015209DOI Listing
April 2019
2 Reads

A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure.

Balkan J Med Genet 2018 Dec 31;21(2):73-77. Epub 2018 Dec 31.

Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Read More

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http://content.sciendo.com/view/journals/bjmg/21/2/article-p
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http://dx.doi.org/10.2478/bjmg-2018-0017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454244PMC
December 2018
2 Reads

Reassuring data concerning follow-up data of children born after preimplantation genetic diagnosis.

Fertil Steril 2019 Apr 11. Epub 2019 Apr 11.

Centre for Reproductive Medicine, European Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.fertnstert.2019.02.017DOI Listing
April 2019
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Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma.

Syst Biol Reprod Med 2019 Apr 12:1-6. Epub 2019 Apr 12.

b Prenatal Diagnosis Centre , Northwest Women's and Children's Hospital , Xi'an , China.

The current study describes a successful case of preimplantation genetic diagnosis (PGD) of primary open angle glaucoma (POAG) and verifies the efficiency of next-generation sequencing (NGS)-based haplotyping for PGD of POAG. In this study, we applied NGS as part of PGD to effectively detect POAG prior to embryo implantation and avoid the prospect of pregnancy termination in event of vertical inheritance of POAG. We used the technique of multiple annealing and looping based amplification cycles (MALBAC) to conduct whole genome amplification (WGA) and to reduce the allele dropout (ADO). Read More

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https://www.tandfonline.com/doi/full/10.1080/19396368.2019.1
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http://dx.doi.org/10.1080/19396368.2019.1590479DOI Listing
April 2019
2 Reads

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Hum Reprod 2019 Mar 30. Epub 2019 Mar 30.

Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

Study Question: What are the factors influencing the success rate for couples undergoing preimplantation genetic testing (PGT) for polycystic kidney disease (PKD)?

Summary Answer: In our study cohort, the live birth delivery rate is significantly associated with female age while the male infertility accompanying autosomal dominant PKD (ADPKD) does not substantially affect the clinical outcome.

What Is Known Already: While women with ADPKD have no specific fertility problems, male ADPKD patients may present with reproductive system abnormalities and infertility.

Study Design, Size, Duration: This retrospective cohort study involves 91 PGT cycles for PKD for 43 couples (33 couples for PKD1, 2 couples for PKD2 and 8 couples for autosomal recessive PKD (ARPKD)) from January 2005 until December 2016 with follow-up of transfers until end of 2017. Read More

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http://dx.doi.org/10.1093/humrep/dez027DOI Listing
March 2019
1 Read

Comprehensive mitochondrial DNA analysis and IVF outcome.

Hum Reprod Open 2018 20;2018(4):hoy023. Epub 2018 Dec 20.

Instituto Bernabeu Biotech, 03016 Alicante, Spain.

Study Question: Do mitochondrial DNA (mtDNA) copy number and heteroplasmy in human embryos affect the ongoing pregnancy rate?

Summary Answer: Our study suggests that mtDNA copy number above a specific threshold is associated with the ongoing pregnancy rate.

What Is Known Already: Mitochondria play a vital role in cell function. Recently, there has been increasing research on mtDNA as a biomarker of embryo implantation. Read More

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http://dx.doi.org/10.1093/hropen/hoy023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396640PMC
December 2018
3 Reads

The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa.

J Assist Reprod Genet 2019 Mar 19. Epub 2019 Mar 19.

Research Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Clinical College of Fujian Medical University/Dongfang Hospital, Xiamen University Medical College, 156 Xi'erhuanbei Road, Fuzhou City, 350025, Fujian Province, People's Republic of China.

Objective: To investigate the usefulness of preimplantation genetic diagnosis (PGD) based on mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) for a pedigree with X-linked retinitis pigmentosa (XLRP).

Methods: One pathogenic mutation (c.494G > A) of the retinitis pigmentosa GTPase regulator (RPGR) gene was identified in a pedigree affected by XLRP. Read More

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http://dx.doi.org/10.1007/s10815-019-01434-9DOI Listing
March 2019
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BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers.

BMC Med Genomics 2019 Mar 18;12(1):52. Epub 2019 Mar 18.

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200011, China.

Background: Preimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction. However, traditional methods could not further distinguish embryos carrying a translocation from those with a normal karyotype prior to implantation.

Methods: To solve this problem, we developed a method named "Chromosomal Phasing on Base level" (BasePhasing), which based on Infinium Asian Screening Array-24 v1. Read More

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http://dx.doi.org/10.1186/s12920-019-0495-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423798PMC
March 2019
2 Reads

Genetic counselors' preferences for coverage of preimplantation genetic diagnosis: A discrete choice experiment.

Clin Genet 2019 Mar 11. Epub 2019 Mar 11.

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

Preimplantation genetic diagnosis (PGD) allows couples to test for a genetically affected embryo prior to implantation. Patient access to this ethically complex and expensive technology differs markedly across jurisdictions, with differences in private/public insurance coverage and variations in patient inclusion and diagnostic criteria. The objective of the study was to identify trade-offs regarding PGD coverage decisions amongst genetic counselors. Read More

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http://dx.doi.org/10.1111/cge.13531DOI Listing
March 2019
2 Reads

Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy.

Hum Reprod 2019 Apr;34(4):758-769

Ghent-Fertility And Stem cell Team (G-FAST), Department for Reproductive Medicine, Ghent University Hospital, Corneel Heymanslaan 10, Ghent, Belgium.

Study Question: What is the accuracy of preimplantation genetic testing for aneuploidies (PGT-A) when considering human peri-implantation outcomes in vitro?

Study Answer: The probability of accurately diagnosing an embryo as abnormal was 100%, while the proportion of euploid embryos classified as clinically suitable was 61.9%, yet if structural and mosaic abnormalities were not considered accuracy increased to 100%, with a 0% false positive and false negative rate.

What Is Already Known: Embryo aneuploidy is associated with implantation failure and early pregnancy loss. Read More

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http://dx.doi.org/10.1093/humrep/dez012DOI Listing
April 2019
3 Reads

Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility: 28 cases and a review of the literature.

Medicine (Baltimore) 2019 Mar;98(9):e14730

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital.

For genetic counseling of male carriers of chromosomal translocations, the specific chromosomes and breakpoints involved in the translocation are relevant to know. The structural chromosomal abnormalities may lead to abnormal sperm counts, infertility, and miscarriage. These are related to the specific chromosomes and breakpoints involved in the translocation. Read More

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http://dx.doi.org/10.1097/MD.0000000000014730DOI Listing
March 2019
1 Read

Preimplantation Genetic Testing: Its Evolution, Where Are We Today?

J Hum Reprod Sci 2018 Oct-Dec;11(4):306-314

FertilTree-Jaslok International Fertility Centre, Jaslok Hospital, Mumbai, Maharashtra, India.

Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis where abnormal embryos are identified, thereby allowing transfer of genetically normal embryos. This technology has become an integral part of Assisted Reproductive Technology (ART) procedures. Initial experiments with animals as early as 1890 and those in the mid and later part of the last century paved the forward path of ART and PGT. Read More

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http://dx.doi.org/10.4103/jhrs.JHRS_132_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333033PMC
February 2019
1 Read

Metabolic characterization of amniotic fluids of fetuses with enlarged nuchal translucency.

J Perinat Med 2019 Apr;47(3):311-318

Department of Prenatal and Preimplantation Genetic Diagnosis and Fetal Therapy, Ospedale Microcitemico, Via E. Jenner n/n, 09121 Cagliari, Italy.

Background In prenatal diagnosis, a thickened nuchal translucency (NT) is one of the most sensitive and specific markers for several defects but it may also be found in 5% of healthy fetuses. The pathophysiological causes that lead to an increase in NT are not yet fully understood. Metabolomics represents a new promising approach, useful for studying different metabolites in biological organisms in response to environmental stressors. Read More

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http://dx.doi.org/10.1515/jpm-2018-0314DOI Listing
April 2019
1 Read

Preimplantation genetic testing using Karyomapping for a paternally inherited reciprocal translocation: a case study.

J Assist Reprod Genet 2019 Feb 12. Epub 2019 Feb 12.

Monash IVF, Suite 1, 252 Clayton Rd, Clayton, Victoria, 3168, Australia.

Purpose: Preimplantation genetic testing (PGT) using Karyomapping is used to screen embryos for single gene disorders prior to implantation. While Karyomapping is not designed to screen for abnormalities in chromosome copy number, this testing is based upon a genome-wide analysis of single nucleotide polymorphisms (SNP) and, as such, some chromosome abnormalities are detected. The aim of this study was to validate whether Karyomapping could provide reliable and accurate PGT for a paternal 46,XY,t(10;19)(p15;p13. Read More

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http://link.springer.com/10.1007/s10815-019-01413-0
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http://dx.doi.org/10.1007/s10815-019-01413-0DOI Listing
February 2019
2 Reads

[Comparison of birth weights of children born after slow frozen embryo replacement versus fresh embryo transfer].

Gynecol Obstet Fertil Senol 2019 03 10;47(3):305-310. Epub 2019 Feb 10.

Département de biologie de la reproduction, CHU de Montpellier, 34000 Montpellier, France; Inserm, U1203, institut de médecine régénératrice et de biothérapie, CHU de Montpellier, 34000 Montpellier, France.

Objective: It is already known that children born after slow frozen embryo replacement have a significantly higher birth weight compared to children born after fresh embryo transfer. Similar data have been reported related to frozen embryo transfer using an open vitrification system. However, few data relative to birth weight using a complete embryo closed vitrification system has been reported. Read More

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http://dx.doi.org/10.1016/j.gofs.2019.01.011DOI Listing
March 2019
5 Reads

Preimplantation embryos sex ratios in couples with four or more children of same sex, what should be expected from a preimplantation genetic diagnosis cycle?

Gynecol Endocrinol 2019 Feb 10:1-3. Epub 2019 Feb 10.

a Department of Obstetrics and Gynecology , Sheba Medical Center , Ramat-Gan , Israel.

Our aim was to assess the preimplantation embryos' sex ratios in couples with four or more children of same sex, undergoing sex selection for nonmedical reasons. We conducted a cohort-historical study of all consecutive patients admitted to the IVF-PGD program in a large tertiary center. We reviewed the computerized files of all consecutive women admitted to our IVF for sex selection for nonmedical reasons. Read More

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http://dx.doi.org/10.1080/09513590.2018.1563886DOI Listing
February 2019
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The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood.

Bioethics 2019 Feb 7. Epub 2019 Feb 7.

CAPHRI School for Public Health and Primary Care, Maastricht University, Netherlands.

Expanded universal carrier screening (EUCS) entails a population-wide screening offer for multiple disease-causing mutations simultaneously. Although there is much debate about the conditions under which EUCS can responsibly be introduced, there seems to be little discussion about its aim: providing carrier couples with options for autonomous reproductive choice. While this links in with current accounts of the aim of foetal anomaly screening, it is different from how the aim of ancestry-based carrier screening has traditionally been understood: reducing the disease burden in the population. Read More

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http://dx.doi.org/10.1111/bioe.12555DOI Listing
February 2019
2 Reads

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

J Huntingtons Dis 2019 ;8(1):71-78

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Amongst the main reasons people at risk for Huntington's disease (HD) have for undergoing predictive genetic testing are planning a family and prevention of passing on an expanded CAG-repeat to future offspring. After having received an unfavourable test result, a couple may consider prenatal testing in the foetus or preimplantation genetic diagnostic testing (PGD) in embryos. Testing of the foetus or embryos is possible by means of direct testing of the expanded repeat. Read More

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http://dx.doi.org/10.3233/JHD-180314DOI Listing
January 2019
2 Reads

Ovarian stimulation for preimplantation genetic testing.

Reproduction 2019 04;157(4):R127-R142

Hospital Universitario Dexeus, Barcelona, Spain.

A narrative review of the management of controlled ovarian stimulation in patients undergoing preimplantation genetic testing is presented. An electronic search was performed to identify research publications that addressed ovarian stimulation and preimplantation genetic testing published until December 2017. Studies were classified in decreasing categories: randomized controlled trials, prospective controlled trials, prospective non-controlled trials, retrospective studies and experimental studies. Read More

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https://rep.bioscientifica.com/view/journals/rep/aop/rep-18-
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http://dx.doi.org/10.1530/REP-18-0475DOI Listing
April 2019
6 Reads

Hot topics in female infertility: an afterword.

Panminerva Med 2019 Mar;61(1):97-99

American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.23736/S0031-0808.18.03554-1DOI Listing
March 2019
2 Reads
2.276 Impact Factor

A quality management approach to controlled ovarian stimulation in assisted reproductive technology: the "Fischer protocol".

Panminerva Med 2019 Mar;61(1):11-23

Andrology and Human Reproduction Clinic, ANDROFERT, Campinas, Brazil.

Background: Ovarian stimulation (OS) is crucial for pregnancy success in assisted reproductive technology (ART) treatments. The possibility of programming the OS cycle and oocyte pick-up (OPU) is advantageous to Fertility Centers operating under quality management systems (QMS) as it might increase efficiency and safety. Moreover, cycle programming is patient-centered as it might help IVF patients to most optimally manage domestic and work commitments. Read More

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http://dx.doi.org/10.23736/S0031-0808.18.03549-8DOI Listing
March 2019
9 Reads

Female infertility and assisted reproductive technology.

Panminerva Med 2019 Mar;61(1):1-2

American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.23736/S0031-0808.18.03553-XDOI Listing
March 2019
5 Reads
2.276 Impact Factor

[Preimplantation genetic diagnosis (PGD) in the era of predictive medicine].

Med Sci (Paris) 2019 Jan 23;35(1):72-77. Epub 2019 Jan 23.

Institut Éthique, Histoire, Humanités (iEH2), université de Genève, CMU, 1 rue Michel-Servet, CP 1211 Genève 4, Suisse.

High speed sequencing is revolutionizing the various genetic tests and in particular preimplantation genetic diagnosis (PGD), opening the doors to an increasingly efficient predictive medicine. PGD itself is not new, and the various legistations have been dealing with it for some twenty years. National ethics committees, for their part, have widely debated antenatal tests in the context of medically assisted procreation. Read More

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https://www.medecinesciences.org/10.1051/medsci/2018292
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http://dx.doi.org/10.1051/medsci/2018292DOI Listing
January 2019
5 Reads

Classic Markers for Infection Perform Poorly in Predicting Residual Infection Prior to Reimplantation.

Orthopedics 2019 Jan;42(1):34-40

Two-stage exchange arthroplasty remains the treatment of choice for chronic periprosthetic joint infections. This retrospective study conducted between 2009 and 2015 examined the diagnostic value of biomarkers for residual infection between stages. The biomarkers evaluated included C-reactive protein prior to reimplantation, preimplantation synovial fluid white blood cell count and percent neutrophils, and the intraoperative histologic synovial white blood cell count per high-power field (×400) on permanent sections. Read More

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http://dx.doi.org/10.3928/01477447-20190103-03DOI Listing
January 2019
9 Reads

Exploring the preferences of involved health professionals regarding the implementation of an online decision aid to support couples during reproductive decision-making in hereditary cancer: a mixed methods approach.

Fam Cancer 2019 Apr;18(2):285-291

Department of Clinical Genetics, Maastricht University Medical Centre+, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

To support persons having a genetic predisposition to cancer and their partners during reproductive decision-making, an online decision aid was developed and evaluated. To maximize the impact of the support tool, this mixed methods study aims at developing the optimal implementation strategy for the decision aid. A questionnaire to assess the critical determinants that may affect this implementation was completed by health professionals involved in oncogenetic counselling (N = 46). Read More

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http://dx.doi.org/10.1007/s10689-019-00119-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449279PMC
April 2019
7 Reads

Preimplantation genetic diagnosis in early pregnancy loss.

Semin Perinatol 2019 Mar 20;43(2):116-120. Epub 2018 Dec 20.

Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Columbia University Medical Center, 5 Columbus Circle, PH New York, NY 10019, USA.

Miscarriage is a frequent outcome seen in obstetrics with 1 in 5 pregnancies ending in an early pregnancy loss. Aneuploidy is the most significant single factor affecting early pregnancy failure and miscarriage. The risk of aneuploidy increases significantly with increasing maternal age. Read More

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http://dx.doi.org/10.1053/j.semperi.2018.12.009DOI Listing
March 2019
8 Reads

Sperm preservation by electroejaculation before anticancer therapy.

Scand J Urol 2018 Oct - Dec;52(5-6):461-463. Epub 2019 Jan 17.

a Department of Urology , Aarhus University Hospital , Denmark.

Background: This report presents a case where electroejaculation (EEJ) was used for semen cryopreservation (SCP), prior to gonadotoxic anti-cancer treatment in a 14-year old boy diagnosed with Hodgkins disease.

Method: Two sessions of EEJ were performed with an interval of 48 hours.

Results: No complications were seen and the procedures resulted in nine frozen straws of motile spermatozoa. Read More

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https://www.tandfonline.com/doi/full/10.1080/21681805.2018.1
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http://dx.doi.org/10.1080/21681805.2018.1534883DOI Listing
January 2019
9 Reads