Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics ...
Katalin Komlosi +8 more
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What role should public opinion play in ethico-legal decision making?:the example of selecting sex for non-medical reasons using preimplantation genetic diagnosis [PDF]
, 2016 In this article we consider the prohibition on the use of preimplantation genetic diagnosis to select an embryo on the basis of its sex for non-medical reasons.
Bennett, Rebecca, Fovargue, Sara Jane
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Optimisation of Laser‐Assisted Biopsy Parameters in Bovine Embryos
Reproduction in Domestic Animals, Volume 61, Issue 2, February 2026.ABSTRACT Although laser‐assisted biopsy has shown advantages in other species, optimised protocols for bovine embryos remain scarce. This study developed a systematically optimised laser biopsy method for bovine embryos, which demonstrated high post‐biopsy survival rates. Key parameters including laser energy, needle diameter, and operating medium were
Jingyu Zhang +5 more
wiley +1 more source
The ethical challenges of preimplantation genetic diagnosis (PGD)
Diaconia, 2014 Pre-implantation genetic diagnosis (PGD or PIGD) refers to genetic profiling of embryos prior to implantation (as a form of embryo profiling). PGD has raised ethical issues, although this approach could reduce reliance on fetal selection during pregnancy.
Øivind Foss
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Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation. [PDF]
J Assist Reprod Genet, 2021 Ji D +12 more
europepmc +1 more source
Preimplantation Genetic Diagnosis for Brca1 and Brca2 Mutations
Ankara Üniversitesi Tıp Fakültesi Mecmuası, 2016 Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome with multiple family members with breast cancer or ovarian cancer or both, the presence of both breast cancer and ova-rian cancer in a single individual, and ...
Yavuz Emre Șükür +2 more
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Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia. [PDF]
PLoS One, 2022 Vuong VVH +9 more
europepmc +1 more source
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam. [PDF]
Appl Clin Genet, 2021 Trieutien S +7 more
europepmc +1 more source
Corino de Andrade disease: mechanisms and impact on reproduction [PDF]
, 2017 Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive ...
Barros, A. +3 more
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