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Comparison of Non-Invasive and Minimally Invasive Preimplantation Genetic Testing for Aneuploidy Using Samples Derived from the Same Embryo Culture.
J Clin Med
December 2024
Collegium Medicum, WSB University, 41-300 Dąbrowa Górnicza, Poland.
: To assess the ploidy status of embryos via preimplantation genetic testing for aneuploidy (PGT-A), a biopsy of trophectoderm (TE) cells can be performed. However, this approach is considered invasive, and therefore the aim of this study was to identify the optimal sample type and sampling day for non-invasive or minimally invasive PGT-A (ni/miPGT-A) in terms of data quality and concordance rates with TE biopsies derived from the same embryos. : This study was performed using 239 embryo cultures.
View Article and Find Full Text PDFGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFTiming of Assisted Hatching and Mosaicism Rates Following Trophectoderm Biopsy for Preimplantation Genetic Testing for Aneuploidy.
Fertil Steril
January 2025
Department of Obstetrics & Gynecology, University of Pennsylvania, Philadelphia, PA, USA.
Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report.
Medicine (Baltimore)
January 2025
Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.
Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.
View Article and Find Full Text PDFProtecting Future Generations From Hereditary Genetic Disorders Using Preimplantation Genetic Diagnosis: A Narrative Review Article.
Cureus
December 2024
Medicine, College of Medicine, Taibah University, Medina, SAU.
Preimplantation genetic diagnosis (PGD) is provided by majority of reproductive clinics in the United States (US), and PGD is used in many in vitro fertilization (IVF) procedures every year. PGD is extensively used to screen for certain genetic abnormalities and aneuploidy in individuals undergoing IVF. Genetic disorders are very prevalent in Saudi Arabia.
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