Publications by authors named "L Picchetta"
Article Synopsis
- The study aimed to determine if segmental aneuploid embryos exhibited distinct morphokinetic patterns compared to euploid and whole-chromosome aneuploid embryos during development.
- Researchers analyzed data from over 7,000 embryos cultured in European IVF clinics and found that segmental aneuploids had significantly slower cleavage rates, particularly during the first three cell cycles.
- A logistic regression model was developed to predict aneuploidy types based on morphokinetic data, but its overall predictive performance was modest when tested on new data.
Objective: To evaluate the technical accuracy, inheritance, and pathogenicity of small copy number variants (CNVs) detected by a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) platform.
Design: Retrospective observational study performed between 2020 and 2022.
Setting: Clinic.
During IVF treatments, normal fertilization is generally evidenced by the appearance of two pronuclei, one arising from the oocyte and the other from the male gamete. Embryos derived from zygotes with a pronuclei number other than two are assumed to possess a ploidy abnormality and their transfer is usually avoided owing to increased risk of implantation failure, miscarriage, and molar pregnancies. Nonetheless, the inclusion of genotyping data in preimplantation genetic testing has revealed that a normal diploid configuration is possible in embryos deriving from zygotes with an abnormal pronuclei number such as tripronuclear and one pronucleus.
View Article and Find Full Text PDFSegmental aneuploidies (SAs) are structural imbalances, namely, gains or losses, involving a chromosomal segment. Most preimplantation genetic testing platforms can detect segmental imbalances greater than 5-10 Mb, either full or mosaic; however, questions remain about clinical significance. An in-depth review was performed to determine the accuracy, frequency, and types of SAs detected in preimplantation embryos.
View Article and Find Full Text PDFStudy Question: Can chromosomal abnormalities beyond copy-number aneuploidies (i.e. ploidy level and microdeletions (MDs)) be detected using a preimplantation genetic testing (PGT) platform?
Summary Answer: The proposed integrated approach accurately assesses ploidy level and the most common pathogenic microdeletions causative of genomic disorders, expanding the clinical utility of PGT.