![]() ![]() We identified associations between low (negatively-associated) and high mosaicism (positively-associated) and maternal age, indication (male factor and uterus/ovarian factor negatively associated with low and high mosaic, respectively), day of blastocyst development (day five has an overall better outcome), morphology grade (lower quality increased the chances of low and high mosaicism), origin (vitrified oocyte and embryo increased the rates of low and high mosaicism, respectively), and embryo sex (male embryos negatively associated with low mosaic).ĭiscussion: With these results, we hope to foster an improved understanding of the chromosomal mosaicism linked with distinct clinical conditions and their associations in Brazil. Low mosaicism in trisomy represented the most ordinary form, followed by low mosaicism in monosomy. Results: Chromosomal analysis revealed that most mosaic aneuploidies occurred in the last three chromosomes, with 78.06% of cases having only one chromosome affected. We carried out descriptive statistical and associative analyses to assess the proportions of mosaicism associated with clinical conditions and reported incidence by chromosome, clinic origin, and biopsy operator. Methods: We took advantage of a preimplantation genetic testing for aneuploidy (PGT-A) database created from 2019 to 2022 in more than 160 in vitro fertilization (IVF) clinics in Brazil, the second-largest world market for IVF. Although chromosomal mosaicism occurs in a minority of embryos, their relative commonality and uncertainty regarding associated transfer outcomes have created discussion at both the clinical and research levels, highlighting the need to understand the clinical conditions associated with the incidence of embryo mosaicism. Introduction: Uniform chromosome abnormalities are commonly seen in early pregnancy loss, with analyses of the product of conception suggesting the presence of mosaic autosomal trisomy in ∼10% of cases. 1Laboratory of Genetic Medicine, Igenomix Brasil, São Paulo, Brazil.The sentiment of one doctor quoted in the article sums up the feelings of most IVF doctors dealing with this difficult issue: “A mosaic embryo does have potential for reproduction but it could be anywhere on the spectrum from a healthy to a damaged baby, and we don’t know where.” Although more technological advancement and research is needed, one can only hope we hear more success stories like the couple with their healthy and happy baby boy.Hadassa Campos Heiser 1, Natalia Fagundes Cagnin 1, Mariane Uehara de Souza 1, Taccyanna Mikulski Ali 1, Paula Regina Queiroz Estrada 1, Camila Cristina Wuaquim Dantas de Souza 1, Bruno Coprerski 1, Carmen Rubio 2 and Marcia Riboldi 1* The conclusion from this research is mixed on how well PGS testing can track abnormal cells, and the likelihood that a mosaic embryo will develop into a healthy baby. The article cites studies researching mosaic embryos and how accurate PGS tests are in detecting abnormalities. These were the tough odds that the couple faced, and in 2014 their healthy baby boy was born.ĭespite that couple’s success story, many IVF doctors are hesitant to move forward with the procedure once an embryo is determined to be mosaic. The article cites research showing a 40 percent success rate of healthy babies being born from mosaic embryos. Doctors use a test called Preimplantation Genetic Screening (PGS) to ascertain what cells are normal or abnormal in a developing embryo. If these abnormal cells persists, it can cause miscarriages or, in some rare occasions, serious birth defects. When fertilized, a mosaic embryo sometimes mistakes in cell division occur and cause abnormal cell lines. Roughly 20 percent of embryos have both normal and abnormal cells, which are called “Mosaic” embryos. This was the harrowing situation that one couple experienced in Kira Peikoff’s New York Times article, “ In IVF, Questions About ‘Mosaic’ Embryos”. You and your partner are faced with one of the most impossible and unfair questions anyone can be faced with: what do you do? Your doctor receives a troubling test result: your five-day old embryo has a handful of cells that are abnormal (mosaic embryo) and could lead to developmental defects in your baby. However, reaching for your dreams comes with risks. Unfortunately, this is your one and only shot to get your child, and you and your partner are all in to make your dreams come true. You have invested everything to start your family: time, money, fear, and hope. You both decide to use in vitro fertilization (IVF) and choose a surrogate to deliver your baby. ![]() ![]() Imagine this situation: you and your partner have made the huge decision of starting a family together. ICSI - Intracytoplasmic Sperm Injection. ![]()
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