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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Evaluating embryo euploidy among patients diagnosed with inflammatory bowel disease undergoing in vitro fertilization
Atoosa Ghofranian1, Samantha L Estevez2, Diana S Shaari2
1Icahn School of Medicine at Mount Sinai, New York, NY, USA - atoosagmd@gmail.com.
Background:
The impact of inflammatory bowel disease (IBD) on embryo chromosomal competence during in vitro fertilization (IVF) remains poorly defined. This study aimed to evaluate embryo euploidy rates among patients with IBD undergoing IVF with preimplantation genetic testing for aneuploidy (PGT-A), compared with patients without IBD.
Methods:
This retrospective cohort study was conducted at an urban, academic reproductive medicine center. A total of 43 patients with IBD (Crohn's disease or ulcerative colitis) and 129 matched controls without IBD who underwent IVF with PGT-A between 2011 and 2022 were included. Patients with endometriosis, severe male factor infertility, prior chemotherapy or radiation exposure, or chromosomal translocations were excluded. All patients underwent controlled ovarian hyperstimulation, oocyte retrieval, intracytoplasmic sperm injection, and trophectoderm biopsy with PGT-A using next-generation sequencing. The primary outcome was euploid blastocyst rate. Secondary outcomes included oocyte yield, oocyte maturity and fertilization rates, blastulation rate, and rates of aneuploid and mosaic embryos.
Results:
Euploid blastocyst rates were identical between patients with and without IBD (47.5% vs. 47.5%, P=0.99), with no significant differences in aneuploid or mosaic embryo rates. Patients with IBD had significantly higher total and mature oocyte yields despite comparable baseline ovarian reserve parameters. No differences were observed in oocyte maturity, fertilization, or blastulation rates. Results remained unchanged after multivariate adjustment.
Conclusions:
In this cohort, patients with IBD undergoing IVF with PGT-A had euploid blastocyst rates similar to those without IBD, suggesting no clear impact on embryo chromosomal competence. However, given the retrospective design and small sample size, these findings should be interpreted with caution, and a modest effect cannot be excluded. Overall, the results provide some clinical reassurance and support ART as a reasonable option for patients with IBD, while underscoring the need for prospective studies to further evaluate disease-related factors.
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