Results 21 to 30 of about 24,363 (274)
Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene
Clinical Case Reports, 2021 Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
Antonio Miguel Poyatos‐Andújar +6 more
doaj +1 more source
Pre-implantation Genetic Testing for Aneuploidy (PGT-A)
Thai Journal of Obstetrics and Gynaecology, 2020 Preimplantation genetic diagnosis (PGD) or embryo selection was first performed in 1989 using PCR for gender selection to avoid X-linked recessive disorder. However, there was a misdiagnosis due to allele drop out (ADO). Therefore, fluorescent in situ
Wirawit Piyamongkol
doaj +1 more source
Genetic testing in Marfan syndrome [PDF]
, 2016 Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core +1 more source
Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang +2 more
doaj +1 more source
A ‘healthy baby’: The double imperative of preimplantation genetic diagnosis [PDF]
, 2010 This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2010 The Authors.This article reports from a study exploring the social processes, meanings and institutions that frame and produce ...
Casper, M.J. +9 more
core +1 more source
Genetic Selective Abortion: Still a Matter of Choice [PDF]
, 2020 Jeremy Williams has argued that if we are committed to a liberal pro-choice stance with regard to selective abortion for disability, we will be unable to justify the prohibition of sex selective abortion. Here, I apply his reasoning to selective abortion
Blackshaw, Bruce P.
core +2 more sources
Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)
Frontiers in Reproductive Health, 2023 Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic
Firuza Parikh +6 more
doaj +1 more source
Frontiers in Endocrinology, 2019 Recent advancements in genomic analysis allow testing of an increasing number of genetic features in human preimplantation embryos. Typical single gene mutation and whole chromosomes testing can now be integrated with assessment of mitochondrial DNA and ...
Maurizio Poli +10 more
doaj +1 more source
Molecular Cytogenetics, 2021 Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang +5 more
doaj +1 more source
Journal of Human Reproductive Sciences, 2021 Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by fluorescent in situ hybridisation for a ...
Firuza R Parikh +7 more
doaj +1 more source