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Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.
Int J Fertil Steril
January 2025
Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care.
View Article and Find Full Text PDFApproximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.
bioRxiv
December 2024
Department of Biology, Johns Hopkins University, Baltimore, MD, USA 21218.
Chromosome mis-segregation is common in human meiosis and mitosis, and the resulting aneuploidies are the leading cause of pregnancy loss. Preimplantation genetic testing for aneuploidy (PGT-A) seeks to prioritize chromosomally normal embryos for transfer based on genetic analysis of a biopsy of approximately five trophectoderm cells from blastocyst-stage fertilized (IVF) embryos. While modern PGT-A platforms classify these biopsies as aneuploid, euploid, or mosaic (possessing a mixture of normal and aneuploid cells), the underlying incidences of aneuploid, euploid, and mosaic embryos and the rates of meiotic and mitotic error that produced them remain largely unknown.
View Article and Find Full Text PDFConcomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
Clin Genet
December 2024
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre- and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty. The occurrence of upd(14)mat is rare, and it may, in even rarer cases, co-occur with trisomy 14 mosaicism. To date, only 11 live-born cases have been reported in the literature.
View Article and Find Full Text PDF[Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Prenatal Diagnosis Center, the Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510655, China.
Objective: To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.
Methods: Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up.
Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- Prenatal diagnosis of mosaic trisomy 21 was successfully performed on a 41-year-old woman during an amniocentesis, revealing a mix of normal and abnormal cells in the fetus due to a Robertsonian translocation.
- Despite initial concerns, subsequent tests showed significant normalization in fetal cells, leading to a reassuring outcome.
- At 38 weeks, the mother delivered a healthy baby with normal development, confirming that even low-level chromosomal abnormalities can result in positive pregnancy outcomes.
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