Purpose The purpose of this study is to present a case of healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with preimplantation genetic screening (PGS) using sperm from a man with non-mosaic trisomy 21 and a literature review. Materials and methods A 26-year-old euploid female and 29-year-old male with non-mosaic trisomy 21 and male factor undergoing ICSI-IVF treatment for primary infertility with embryo biopsy for PGS with comprehensive chromosomal screening (CCS) presented to the Infertility Clinic at Highland Hospital, the Alameda County Medical Center, California, with 6-year history of primary infertility. The outcome measure is a live birth of a healthy child and ploidy status of biopsied blastocysts. Results Egg retrieval yielded 33 oocytes, 29 of which underwent ICSI with ejaculated sperm. Twenty-eight 2PN zygotes were cultured, and 13 blastocysts underwent trophectoderm biopsy and vitrification 5 or 6 days after retrieval. CCS analysis revealed that 12 out of 13 (92 %) of blastocysts were euploid and one was a complex abnormal mosaic. Transfer of two grade I hatching blastocysts resulted in a singleton pregnancy with normal prenatal genetic screening and delivery of a healthy male infant at 41 weeks via primary cesarean section for non-reassuring fetal status. Conclusion This is the first report of a live birth of a healthy child after ICSI-IVF with PGS using ejaculated sperm from a man with non-mosaic trisomy 21 and male factor infertility.
In the September 2015 issue, we reported the first case of a healthy life birth from an ICSI-IVF cycle using ejaculated sperm from a man with nonmosaic trisomy 21 with preimplantation genetic screening [1]. At that time, the father's genetic diagnosis was based on his typical phenotype and FISH of peripheral lymphocytes which is limited to chromosomes 13, 18, 21, X and Y and provides no information about translocations, deletions, ring chromosomes, etc.Since the publication of our report, the couple subsequently returned to care seeking a second, female child. At this time, the husband's peripheral blood karyotype, the diagnostic gold standard, was obtained and confirmed the 47, XY, +21 (30 cell count). The finding of nonmosaic Trisomy 21 by traditional culture and banding adds further significance to the case report. Of note, two euploid 46, XX blastocysts were transferred per the couple's request and the wife's serum hCGs indicate an early evolving pregnancy.
Sincerely, The AuthorsCompliance with ethical standards Conflict of interest The authors declare that they have no conflict of interest.
Reference1. Aghajanova L, Popwell JM, Chetkowski RJ, Herndon CN. Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome.
Objective: To investigate the gender-specific morphokinetics of embryos. Design: Retrospective observational study. Materials and Methods: Data used in this study were collected from our routine IVF-PGS patients during 2013-2015, excluding donor, frozen and PGD cycles. Autologous fresh oocytes from randomly selected patients (n = 65; 69 cycles) were incubated in Time-Lapse microscope (EmbryoScope: Unisense Fertilitech, Denmark) following insemination. Following the biopsy either on Day 3 or Day 5 (n = 358), ploidy status of embryos was analyzed by Genesis Genetics. According to PGS results, these embryos classified into two groups based on their gender after excluding embryos with complex abnormality on multiple chromosomes (n = 96) and no result (n = 8). The gender specific morphokinetic parameters and the most common chromosomal abnormalities were determined in XX embryos (n = 125) vs. XY embryos (n = 129) (Table 1). Data were analyzed using student t-test and χ 2 -test. Results: The mean differences of all parameters within groups were tabulated below. Conclusions: Our findings showed that the morphokinetics of embryos were similar between groups. Chromosome 16 is mostly affected in female embryos compared to their male counterparts*. A detailed chromosome screening such as SNP studies might reveal better understating of gender-specific characteristics of embryos. Disclosures: Nothing to disclose. Funding: None.
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