5,225 results match your criteria Preimplantation Genetic Diagnosis


Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature.

Hum Reprod Update 2021 May 13. Epub 2021 May 13.

Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam 3015CN, The Netherlands.

Background: Chromosomal mosaicism can be detected in different stages of early life: in cleavage stage embryos, in blastocysts and biopsied cells from blastocysts during preimplantation genetic testing for aneuploidies (PGT-A) and later during prenatal testing, as well as after birth in cord blood. Mosaicism at all different stages can be associated with adverse pregnancy outcomes. There is an onward discussion about whether blastocysts diagnosed as chromosomally mosaic by PGT-A should be considered safe for transfer. Read More

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Non-invasive preimplantation genetic testing for putative mosaic blastocysts: a pilot study.

Hum Reprod 2021 May 11. Epub 2021 May 11.

Department of Obstetrics and Gynecology, Reproductive Medicine Center, the First Affiliated Hospital of Anhui Medical University, Anhui, China.

Study Question: What is the potential of applying non-invasive preimplantation genetic testing (niPGT) for chromosome abnormalities in blastocysts reported with a mosaic trophectoderm (TE) biopsy?

Summary Answer: niPGT of cell-free DNA in blastocyst culture medium exhibited a good diagnostic performance in putative mosaic blastocysts.

What Is Known Already: Advances in niPGT have demonstrated the potential reliability of cell-free DNA as a resource for genetic assessment, but information on mosaic embryos is scarce because the mosaicism may interfere with niPGT. In addition, the high incidence of mosaicism reported in the context of PGT and the viability of mosaic blastocysts raise questions about whether mosaicism really exists. Read More

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Conception of Saviour Siblings: Ethical Perceptions of Selected Stakeholders in Malaysia.

Asian Bioeth Rev 2021 Jun 17;13(2):167-178. Epub 2021 Mar 17.

Advocate & Solicitor, High Court of Malaya, Selangor, Malaysia.

The conception of saviour siblings using preimplantation genetic diagnosis coupled with human leukocyte antigen (HLA) typing or HLA typing alone is controversial and receives a wide divergence of legal responses among countries around the world. The resulting child conceived through this procedure is dubbed a 'saviour sibling' as the child can potentially act as a compatible donor for an elder ailing sibling who needs a haematopoietic stem cell transplantation. At present, the acceptability of this procedure in Malaysia is ambiguous as there is no specific statute governing assisted reproductive technology, and the guideline issued by the Malaysian Medical Council does not expressly address this issue. Read More

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Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis.

Reprod Biomed Online 2021 Mar 6. Epub 2021 Mar 6.

Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan. Electronic address:

Research Question: Preimplantation genetic testing for aneuploidies has increasingly been employed for embryo selection, resulting in a recent surge in mosaic embryos. According to the cytogenetic results, which types of mosaic embryo survive early pregnancy, progress to the second trimester and finally result in a live birth?

Design: This study evaluated 30,587 pregnant women undergoing amniocentesis from January 2004 to March 2020 at the cytogenic centre of Kaohsiung Chang Gung Memorial Hospital. Samples from amniocentesis were cultured using the in-situ method. Read More

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Karyotype of first clinical miscarriage and prognosis of subsequent pregnancy outcome.

Reprod Biomed Online 2021 Apr 6. Epub 2021 Apr 6.

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Stanford University, Sunnyvale CA, USA.

Research Question: Is the karyotype of the first clinical miscarriage in an infertile patient predictive of the outcome of the subsequent pregnancy?

Design: Retrospective cohort study of infertile patients undergoing manual vacuum aspiration with chromosome testing at the time of the first (index) clinical miscarriage with a genetic diagnosis and a subsequent pregnancy. Patients treated at two academic-affiliated fertility centres from 1999 to 2018 were included; those using preimplantation genetic testing for aneuploidy were excluded. Main outcome was live birth in the subsequent pregnancy. Read More

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Identification of a novel homozygous mutation in the gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing.

Iran J Basic Med Sci 2021 Feb;24(2):191-195

Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran.

Objectives: The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes. Defective function of a conserved region encoding discoidin domain receptor tyrosine kinase 2 (DDR2 protein) by the discoidin domain-containing receptor 2 ( gene) is cause of this disease. The purpose of present study was to investigate disease-causing mutations on gene in an Iranian family with SMED, and predict the DDR2 protein molecular mechanism in development of SMED. Read More

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February 2021

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

Mol Genet Genomic Med 2021 May 4:e1662. Epub 2021 May 4.

Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.

Background: Mosaicism poses challenges for genetic counseling and preimplantation genetic testing for monogenic disorders (PGT-M). NGS-based PGT-M has been extensively used to prevent the transmission of monogenic defects, but it has not been evaluated in the application of PGT-M resulting from mosaicism.

Methods: Four women suspected of mosaicism were confirmed by ultra-deep sequencing. Read More

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A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband.

J Assist Reprod Genet 2021 May 3. Epub 2021 May 3.

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease characterized by the development of renal cysts and progression to renal failure. Preimplantation genetic testing-monogenic disease (PGT-M) is an alternative option to obtain healthy babies. However, de novo PKD1 mutation of one of the spouses or the absence of a positive family history poses a serious challenge to PGT-M. Read More

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Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model.

Life (Basel) 2021 Apr 12;11(4). Epub 2021 Apr 12.

Villa Mafalda, Reproductive Medicine, 00199 Rome, Italy.

Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since their higher capability to detect chromosomal mosaicism in human embryos. In the recent years, new NGS systems were released, however their performance for chromosomal mosaicism are variable. Read More

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Family planning in carriers of BRCA1 and BRCA2 pathogenic variants.

J Genet Couns 2021 Apr 27. Epub 2021 Apr 27.

Department of Obstetrics-Gynecology, Women and Infants' Hospital, Cancer Genetics and Prevention Program and The Breast Health Center Program in Women's Oncology, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

BRCA1 and BRCA2 pathogenic variant carriers have a high lifetime risk of developing breast and ovarian malignancies. Given the risks and significant ramifications of undergoing risk-reducing surgeries, many pathogenic variant carriers unaffected by cancer (previvors) struggle with family planning and reproductive decision making. The objective of this study was to determine the attitudes and practices of BRCA1 and BRCA2 pathogenic variant carriers with respect to family planning decision making. Read More

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PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome.

Asian J Androl 2021 Apr 27. Epub 2021 Apr 27.

Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200135, China.

This retrospective study demonstrates the clinical outcomes of patients with nonmosaic Klinefelter's syndrome (KS) who underwent preimplantation genetic testing (PGT) with frozen-thawed testicular spermatozoa. Microdissection testicular sperm extraction (micro-TESE) was performed for sperm retrieval. Next-generation sequencing (NGS) was conducted for embryo analysis. Read More

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Utilization of preimplantation genetic testing in the USA.

J Assist Reprod Genet 2021 Apr 26. Epub 2021 Apr 26.

University College London EGA Institute for Women's Health, London, UK.

Purpose: To evaluate the use of preimplantation genetic testing (PGT) and live birth rates (LBR) in the USA from 2014 to 2017 and to understand how PGT is being used at a clinic and state level.

Methods: This study accessed SART data for 2014 to 2017 to determine LBR and the CDC for years 2016 and 2017 to identify PGT usage. Primary cycles included only the first embryo transfer within 1 year of an oocyte retrieval; subsequent cycles included transfers occurring after the first transfer or beyond 1 year of oocyte retrieval. Read More

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Corrigendum to "Increasing ovarian NAD levels improve mitochondrial functions and reverse ovarian aging" [Free Rad. Biol. Med. 156C (2020) 1-10].

Free Radic Biol Med 2021 Apr 23. Epub 2021 Apr 23.

Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. Electronic address:

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Pregnancy in catecholaminergic polymorphic ventricular tachycardia: therapeutic optimization and multidisciplinary care are key to success.

Herzschrittmacherther Elektrophysiol 2021 Apr 21. Epub 2021 Apr 21.

Centre for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, The University of British Columbia, Vancouver, Canada.

Women of child-bearing age comprise a large proportion of the patients followed by inherited arrhythmia clinics. Despite being a rare and dangerous diagnosis, cardiac and obstetric care providers should know that catecholaminergic polymorphic ventricular tachycardia (CPVT) is not a contraindication to pregnancy. In fact, pregnancy was not associated with an increased risk of CPVT-associated arrhythmias in a recent large cohort study, and most guideline-based anti-arrhythmic drug treatments are life-saving and carry a low risk of teratogenesis. Read More

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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Ital J Pediatr 2021 Apr 19;47(1):94. Epub 2021 Apr 19.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.

Background: Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. Read More

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Genomics-Guided Drawing of Molecular and Pathophysiological Components of Malignant Regulatory Signatures Reveals a Pivotal Role in Human Diseases of Stem Cell-Associated Retroviral Sequences and Functionally-Active hESC Enhancers.

Front Oncol 2021 31;11:638363. Epub 2021 Mar 31.

Institute of Engineering in Medicine, University of California, San Diego, CA, United States.

Repetitive DNA sequences (repeats) colonized two-third of human genome and a majority of repeats comprised of transposable genetic elements (TE). Evolutionary distinct categories of TE represent nucleic acid sequences that are repeatedly copied from and pasted into chromosomes at multiple genomic locations and acquired a multitude of regulatory functions. Here, genomics-guided maps of stemness regulatory signatures were drawn to dissect the contribution of TE to clinical manifestations of malignant phenotypes of human cancers. Read More

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The true incidence of chromosomal mosaicism after preimplantation genetic testing is much lower than that indicated by trophectoderm biopsy.

Hum Reprod 2021 Apr 16. Epub 2021 Apr 16.

Reproductive Medicine Center, Tongji Hospital, Tongji Medicine College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

Study Question: What is the true incidence of chromosomal mosaicism in embryos analyzed by preimplantation genetic testing (PGT).

Summary Answer: The true incidence of chromosomal mosaicism is much lower than we usually surmise.

What Is Known Already: In recent years, contemporary methods for chromosome analysis, along with the biopsy of more than one cell, have given rise to an increased rate of chromosomal mosaicism detection after preimplantation genetic testing for aneuploidy. Read More

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