Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Customizing Conception: A Survey of Preimplantation Genetic Diagnosis and the Resulting Social, Ethical, and Legal Dilemmas [PDF]
, 2002 One in six American couples experience difficulties conceiving a child. With fertility rates at an all time low, the business of treating infertility is booming.
Roberts, Jason Christopher
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The FASEB Journal, Volume 40, Issue 7, 15 April 2026.A diameter‐guided workflow was established to define the appropriate trophectoderm (TE) biopsy area window for bovine blastocysts, with the aim of balancing embryo viability and genotyping reliability. After TE biopsy, sampled cells were subjected to DNA amplification and genomic evaluation, while the corresponding biopsied embryos were transferred to ...
Jingyu Zhang +12 more
wiley +1 more source
Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation [PDF]
Journal of Clinical and Diagnostic ResearchHereditary diseases are disorders that mainly result from mutations or changes in Deoxyribonulciec Acid (DNA), Ribonucleic Acid (RNA), or chromosomes, which impact the overall and physical welfare of an individual.
Shreya Singh +3 more
doaj +1 more source
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects. [PDF]
Mol Genet Genomic Med, 2022 Cui X +5 more
europepmc +1 more source
A review of evidence on non-invasive prenatal diagnosis (NIPD) : tests for fetal RHD genotype [PDF]
, 2007 This report concentrates on three main areas. First and foremost, we set the background context for RhD NIPD in prenatal care. While the methodology chapter describes how the literature review was carried out and how additional information was collected,
Clay, Diane +5 more
core
Preimplantation Genetic Diagnosis in Marfan Syndrome
Case Reports in Obstetrics and Gynecology, 2013 Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection.
N. F. Vlahos +4 more
doaj +1 more source
Preimplantation diagnosis for immunodeficiencies
Reproductive BioMedicine Online, 2007 Preimplantation genetic diagnosis (PGD) has become an established procedure for the detection of single gene disorders, and has recently been performed together with human leukocyte antigen (HLA) typing for couples with children affected by genetic disorders that require HLA-identical stem cell transplantation therapy. For these couples, PGD can ensure
Yury, Verlinsky +7 more
openaire +2 more sources
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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Preimplantation diagnosis for neurofibromatosis
Reproductive BioMedicine Online, 2002 Preimplantation genetic diagnosis (PGD) has recently been performed for inherited cancer predisposition determined by p53 tumour suppressor gene mutations, suggesting the usefulness of PGD for late onset disorders with genetic predisposition, including those caused by the germline mutations of other tumour suppressor genes.
Yury, Verlinsky +9 more
openaire +2 more sources