4,788 results match your criteria Preimplantation Genetic Diagnosis


The dawn of the future: 30 years from the first biopsy of a human embryo. The detailed history of an ongoing revolution.

Hum Reprod Update 2020 May 22. Epub 2020 May 22.

School of Biosciences, University of Kent, Canterbury, UK.

Following early studies showing no adverse effects, cleavage stage biopsy by zona drilling using acid Tyrode's solution, and removal of single blastomeres for preimplantation genetic testing (PGT) and identification of sex in couples at risk of X-linked disease, was performed by Handyside and colleagues in late 1989, and pregnancies reported in 1990. This method was later used for specific diagnosis of monogenic conditions, and a few years later also for chromosomal structural and/or numerical impairments, thereby establishing a valuable alternative option to prenatal diagnosis. This revolutionary approach in clinical embryology spread worldwide, and several other embryo biopsy strategies developed over three decades in a process that is still ongoing. Read More

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http://dx.doi.org/10.1093/humupd/dmaa019DOI Listing

BIRTH OF HEALTHY NEONATE FOLLOWING PREIMPLANTATION GENETIC DIAGNOSIS IN A MOTHER WITH MOSAIC TURNER SYNDROME. CASE REPORT AND REVIEW OF THE LITERATURE.

Rev Colomb Obstet Ginecol 2020 Mar;71(1):56-62

Instituto de Fertilidad Humana - InSer, Medellín, Colombia.

Objective: To report the case of a patient with mosaic Turner syndrome who underwent assisted reproduction treatment with preimplantation genetic testing for aneuploidy and gave birth to a healthy baby girl with normal karyotype; and to conduct a review of the literature on the usefulness of preimplantation genetic diagnosis in women with Turner syndrome.

Methods: A case of a 27 year-old woman diagnosed with mosaic Turner syndrome and secondary altered ovarian reserve, seen in a referral center for infertility management in Medellín, Colombia. The patient underwent in vitro fertilization followed by pre-implantation genetic testing to prevent transmission of Turner syndrome to her progeny. Read More

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http://dx.doi.org/10.18597/rcog.3331DOI Listing

Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration.

J Assist Reprod Genet 2020 May 16. Epub 2020 May 16.

Department of Health Promotion/CAPHRI, Maastricht University, PO Box 616, 6200, MD, Maastricht, The Netherlands.

Purpose: This study aims to describe the motives and considerations of couples carrying a structural chromosomal abnormality deciding on preimplantation genetic testing (PGT).

Methods: A qualitative exploratory study was conducted using semi-structured dyadic interviews with 13 couples (N = 26) carrying a structural chromosomal abnormality. All couples had an informative consultation in our PGT centre in the Netherlands. Read More

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http://dx.doi.org/10.1007/s10815-020-01810-wDOI Listing

Association between the quality of inner cell mass and first trimester miscarriage after single blastocyst transfer.

Reprod Biol Endocrinol 2020 May 12;18(1):43. Epub 2020 May 12.

Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Background: The blastocyst morphology provided valuable roles for predicting pregnancy and live birth, but was still not fully understood for evaluating miscarriage. The aim of this study was to explore the association between blastocyst morphologic evaluation and first trimester miscarriage combined with karyotype of miscarried conceptus.

Methods: This retrospective cohort study included a total of 2873 clinical pregnancy cycles with single blastocyst transfer performed from January 2013 to April 2019. Read More

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http://dx.doi.org/10.1186/s12958-020-00595-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216576PMC

Paternal age, body mass index, and semen volume are associated with chromosomal aberrations-related miscarriages in couples that underwent treatment by assisted reproductive technology.

Aging (Albany NY) 2020 May 8;12(9):8459-8472. Epub 2020 May 8.

Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

We investigated the effects of paternal characteristics, including age, body mass index (BMI), and semen parameters on chromosomal aberration-related miscarriages in couples that underwent treatment with assisted reproductive technology (ART). Single nucleotide polymorphism (SNP) array analysis showed chromosomal aberrations in 60.2% (557/925) of miscarried fetuses, including trisomy in 73. Read More

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http://dx.doi.org/10.18632/aging.103151DOI Listing

A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing.

Clin Genet 2020 May 7. Epub 2020 May 7.

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, China.

Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with human leukocyte antigen (HLA) typing (PGD-HLA), is a useful technique to have healthy offspring that are compatible with a sibling for hematopoietic stem cells transplantation (HSCT) to treat their genetic diseases. Here, we report a new strategy using single nucleotide polymorphism (SNP) linkage analysis for monogenic disease PGD combined with HLA typing, to simultaneously obtain the information of chromosomal aneuploidy, target mutations and HLA typing through a single low-depth next generation sequencing (NGS) procedure. In this study, five couples with probands underwent SNP linkage analysis for PGD-HLA typing were recruited. Read More

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http://dx.doi.org/10.1111/cge.13770DOI Listing

[Effect of exogenous gonadotropin dosage on embryo aneuploidy rate and pregnancy outcome in patients of preimplantation genetic test].

Zhonghua Fu Chan Ke Za Zhi 2020 Apr;55(4):253-258

Department of Obstetrics and Gynecology, The First Medical Center of the PLA General Hospital, Beijing 100853, China.

To investigate the effect of gonadotropin (Gn) on embryo aneuploidy rate and pregnancy outcome during preimplanptation genetic testing for aneuploidy (PGT-A) cycles. The clinical data of patients undergoing PGT-A cycle at the First Medical Center of the PLA General Hospital from January 1, 2013 to May 31, 2019 were retrospectively analyzed. Patients were divided into younger patient group (<35 years old) and elder patient group (≥35 years old) by maternal age, then divided into two groups in line with Gn dosage (≤2 250 U, >2 250 U), and into four groups by number of oocytes retrieved (1-5, 6-10, 11-15 and ≥16 oocytes). Read More

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http://dx.doi.org/10.3760/cma.j.cn112141-20200309-00198DOI Listing

Assessing Clinical Embryology Research: A Global Bibliometric Analysis.

Medicina (Kaunas) 2020 Apr 26;56(5). Epub 2020 Apr 26.

Department of Physiology, Medical School, National and Kapodistrian University of Athens, 75, Mikras Asias, 11527 Athens, Greece.

The evaluative strength of available bibliometric tools in the field of clinical embryology has never been examined in the literature. The aim is to bring insight regarding the identity of clinical embryology research, introducing concerns when solely relying on the methodology of bibliometric analysis. An all-inclusive analysis of the most bibliometrically highlighted scientific contributions regarding the cornerstones of clinical embryology was performed employing the Scopus, Web of Science (WoS) and PubMed databases, between 1978-2018. Read More

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http://dx.doi.org/10.3390/medicina56050210DOI Listing

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF.

In Vivo 2020 May-Jun;34(3):1433-1437

Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.

Background/aim: To determine the incidence of X chromosome mosaicism in women undergoing in vitro fertilization (IVF) treatment and present preimplantation genetic testing for aneuploidy (PGT-A) outcome of this group.

Patients And Methods: A total of 1,058 women undergoing IVF and 154 women with no fertility problems were enrolled in the study. Karyotyping from peripheral blood lymphocytes was performed by conventional cytogenetics. Read More

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http://dx.doi.org/10.21873/invivo.11925DOI Listing
January 2020

Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation.

J Assist Reprod Genet 2020 May 29;37(5):1239-1250. Epub 2020 Apr 29.

Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Peking University Third Hospital, Beijing, 100191, China.

Purpose: Preimplantation genetic diagnosis (PGD) analysis can be challenging for couples who carry more than one genetic condition. In this study, we describe a new PGD strategy to select which embryo(s) to transfer for two clinically challenging cases. Both cases lack essential family members for linkage analysis including de novo mutation combined with reciprocal translocation. Read More

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http://dx.doi.org/10.1007/s10815-020-01753-2DOI Listing

[Application of next generation sequencing for preimplantation genetic test of 71 couples with one partner carrying a reciprocal or Robertsonian translocation].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):563-566

Prenatal Diagnosis Center, Jiangxi Women and Children's Health Care Hospital, Nanchang, Jiangxi 330006, China.

Objective: To assess the value of preimplantation genetic test (PGT) based on next generation sequencing (NGS) for achieving pregnancy for 71 couples with one partner carrying a reciprocal or Robertsonian translocation.

Methods: Following blastocyst biopsy, whole genome of single cell was amplified, and PGT was performed by NGS. The subjects included 60 couples with one partner carrying a reciprocal translocation and 11 with one partner carrying a Robertsonian translocation. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.017DOI Listing

Genetics in human reproduction.

JBRA Assist Reprod 2020 Apr 15. Epub 2020 Apr 15.

Federal University of Juiz de Fora, Juiz de Fora, MG, Brazil.

Approximately 50% of the causes of infertility are of genetic origin. The objective of this study was to analyze the role of genetics in human reproduction by reviewing the main genetic causes of infertility and the use of preimplantation genetic testing in Brazil. This literature review comprised articles in English and Portuguese published on databases PubMed, Scielo, and Bireme from 1990 to 2019. Read More

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http://dx.doi.org/10.5935/1518-0557.20200007DOI Listing

Shooting STAR: reinterpreting the data from the 'Single Embryo TrAnsfeR of Euploid Embryo' randomized clinical trial.

Reprod Biomed Online 2020 Apr 25;40(4):475-478. Epub 2020 Jan 25.

Obstetrics and Gynecology Unit, IRCCS San Raffaele Scientific Institute, Milano 20132, Italy.

Preimplantation genetic testing for aneuploidy (PGT-A) still remains controversial in clinical practice. Recently, the randomized controlled trial, 'Single Embryo TrAnsfeR of Euploid Embryo' (STAR) by Munné and coworkers showed a similar live birth rate per intention to treat in the two study groups (PGT-A and controls). A wrong diagnosis and/or biopsy-related damage to the embryo might underlie these results. Read More

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http://dx.doi.org/10.1016/j.rbmo.2020.01.015DOI Listing

The experiences and attitudes of hemophilia carriers around pregnancy: A qualitative systematic review.

J Thromb Haemost 2020 Apr 9. Epub 2020 Apr 9.

Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.

Background: Hemophilia carriers (HCs) face specific psychosocial challenges related to pregnancy, caused by their inherited bleeding disorder. Optimal support from healthcare providers can only be realized by exploring medical and psychological healthcare requirements.

Objective: To review all published evidence on the experiences and attitudes of HCs regarding reproductive decision-making, prenatal diagnosis, pregnancy, childbirth, and puerperium to provide an accessible overview of this information for health care providers. Read More

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http://dx.doi.org/10.1111/jth.14825DOI Listing

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Am J Med Genet A 2020 Apr 7. Epub 2020 Apr 7.

Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, China.

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Read More

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http://dx.doi.org/10.1002/ajmg.a.61583DOI Listing

Permanence of de novo segmental aneuploidy in sequential embryo biopsies.

Hum Reprod 2020 Apr;35(4):759-769

Società Italiana Studi Medicina della Riproduzione, Reproductive Medicine Unit, S.I.S.Me.R., Bologna, Italy.

Study Question: Is de novo segmental aneuploidy (SA) a biological event or an artifact that is erroneously interpreted as partial chromosome imbalance?

Summary Answer: The detection of de novo SA in sequential biopsies of preimplantation embryos supports the biological nature of SA.

What Is Known Already: Although some SAs are detected in oocytes and in blastocysts, the highest incidence is observed in cleavage-stage embryos. Based on these findings, we can postulate that the majority of cells affected by SAs are eliminated by apoptosis or that affected embryos mainly undergo developmental arrest. Read More

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http://dx.doi.org/10.1093/humrep/deaa025DOI Listing

Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience.

Breast Cancer Res Treat 2020 May 31;181(1):77-86. Epub 2020 Mar 31.

Division of Medical Oncology, Department of Internal Medicine, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

Purpose: We assessed the uptake of fertility preservation (FP), recovery of ovarian function (OFR) after chemotherapy, live birth after breast cancer, and breast cancer outcomes in women with early-stage breast cancer.

Methods: Women aged below 41 years and referred to our center for FP counseling between 2008 and 2015 were included. Data on patient and tumor characteristics, ovarian function, cryopreservation (embryo/oocyte) and transfer, live birth, and disease-free survival were collected. Read More

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http://dx.doi.org/10.1007/s10549-020-05598-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182539PMC

Application of improved single blastomere fixation technique in preimplantation genetic diagnosis.

Cytotechnology 2020 Apr 31;72(2):217-226. Epub 2020 Mar 31.

Center for Reproductive Medicine, Shandong University, No. 157, Jingliu Road, Jinan, 250021, Shandong, China.

To modify a fixation method improving the intensity and clarity of the single blastomeric signal detection by fluorescence in situ hybridization (FISH) in preimplantation genetic diagnosis. 333 cycles of assisted reproduction with preimplantation genetic diagnosis FISH (PGD-FISH) performed in our hospital were analyzed and a total of 3452 single blastomeres were obtained. For the conventional fixation method, the blastomeres were kept in 0. Read More

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http://dx.doi.org/10.1007/s10616-020-00371-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192997PMC

Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos.

Am J Hum Genet 2020 04 26;106(4):525-534. Epub 2020 Mar 26.

Igenomix Italy, 36063, Marostica, Italy; DAHFMO, Unit of Histology and Medical Embryology, Sapienza, University of Rome, 00161, Roma, Italy; Igenomix Foundation, 46980, Valencia, Spain. Electronic address:

Despite next-generation sequencing, which now allows for the accurate detection of segmental aneuploidies from in vitro fertilization embryo biopsies, the origin and characteristics of these aneuploidies are still relatively unknown. Using a multifocal biopsy approach (four trophectoderms [TEs] and one inner cell mass [ICM] analyzed per blastocyst; n = 390), we determine the origin of the aneuploidy and the diagnostic predictive value of segmental aneuploidy detection in TE biopsies toward the ICM's chromosomal constitution. Contrary to the prevalent meiotic origin of whole-chromosome aneuploidies, we show that sub-chromosomal abnormalities in human blastocysts arise from mitotic errors in around 70% of cases. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118577PMC
April 2020
10.931 Impact Factor

Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing.

Hum Reprod 2020 Mar;35(3):718-726

Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.

Study Question: Is it possible to haplotype parents using parental siblings to leverage preimplantation genetic testing (PGT) for monogenic diseases and aneuploidy (comprehensive PGT) by genome-wide haplotyping?

Summary Answer: We imputed identity-by-state (IBS) sharing of parental siblings to phase parental genotypes.

What Is Known Already: Genome-wide haplotyping of preimplantation embryos is being implemented as a generic approach for genetic diagnosis of inherited single-gene disorders. To enable the phasing of genotypes into haplotypes, genotyping the direct family members of the prospective parent carrying the mutation is required. Read More

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http://dx.doi.org/10.1093/humrep/dez285DOI Listing

An Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes.

Front Genet 2020 4;11:191. Epub 2020 Mar 4.

Key Laboratory of Reproductive Genetics (Ministry of Education), Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized primarily by the development of numerous adenomatous polyps in the colon and a high risk for colorectal cancer. FAP is caused by germline mutations of the adenomatous polyposis coli () gene. The proband in this family was a 39-year-old female patient with the pathologic diagnosis of adenomatous polyps, and then a five-generation kindred with FAP was characterized in the following years. Read More

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http://dx.doi.org/10.3389/fgene.2020.00191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064715PMC

The decline of amniocentesis and the increase of chorionic villus sampling in modern perinatal medicine.

J Perinat Med 2020 Mar 19. Epub 2020 Mar 19.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, CA, USA.

Objective The aims of this study were to determine the rate of change by type of diagnosis by transabdominal chorionic villus sampling (TA-CVS) vs. amniocentesis for aneuploidy and to describe a successful and intensive international training program for TA-CVS in ongoing pregnancies. Methods We conducted a retrospective cohort study of all deliveries from 2010 to 2018 in Sardinia. Read More

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http://dx.doi.org/10.1515/jpm-2020-0035DOI Listing

Genetic counseling for cystic fibrosis: A basic model with new challenges.

Arch Pediatr 2020 Feb;27 Suppl 1:eS30-eS34

Génétique Médicale, CHR Clemenceau, CHU de Caen, Avenue Côte de Nacre, France.

While the goals of genetic counseling for cystic fibrosis - delivering relevant information on the risk of recurrence and nondirectional support of couples at risk in their reproductive choices - have not changed fundamentally, the practice has evolved considerably in the last decade, growing more complex to face new challenges but also proving more effective. Many factors have contributed to this evolution: technical progress in the exploration of the genome (new generation sequencing) and in reproductive medicine, but also societal developments promoting access to genetic information and the professionalization of genetic counselors in France. The prospect of expanded pre-conception screening of at-risk couples makes genetic counselors major actors not only in medical care centers, but also in modern society by contributing to genetic education among citizens. Read More

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http://dx.doi.org/10.1016/S0929-693X(20)30048-8DOI Listing
February 2020

Current and future diagnosis of cystic fibrosis: Performance and limitations.

Arch Pediatr 2020 Feb;27 Suppl 1:eS19-eS24

Laboratoires de Biochimie Générale & du Centre Régional du Dépistage Néonatal Ile-de-France, Hôpital Necker-Enfants Malades, APHP. Centre Université de Paris, Paris; Centre de Ressources et de Compétences de la Mucoviscidose, Hôpital Necker-Enfants Malades, AP-HP. Centre Université de Paris, Paris; Institut Necker Enfants Malades/INSERM U1151, Mucoviscidose et autres maladies épithéliales respiratoires par défaut de repliement protéique, Université Paris Descartes, Paris.

Cystic fibrosis (CF) is the most frequent genetic disorder in the Caucasian population benefiting from systematic newborn screening tests. It is also the most frequent indication of prenatal and preimplantation genetic diagnosis for a single gene disorder. During the past thirty years, thanks in part to the evolution of diagnostic techniques, our knowledge on CFTR genetics and pathophysiological mechanisms involved in CF have significantly improved. Read More

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http://dx.doi.org/10.1016/S0929-693X(20)30046-4DOI Listing
February 2020

Multiple pregnancy and assisted conception treatment.

Authors:
Patrick Chien

BJOG 2020 04;127(5):525-526

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http://dx.doi.org/10.1111/1471-0528.16154DOI Listing