Birth of a healthy child after preimplantation genetic screening of embryos from sperm of a man with non-mosaic Down syndrome

Abstract

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.

Down syndrome and infertility: what support should we provide?

“…Previously, only spontaneous pregnancies have been reported in literature-all fathered by men with DS and a normal sperm count. The most recently reported cases include men with DS who used ART (intracytoplasmic sperm injection, ICSI) [28] and, in some instances, pre-implantation genetic diagnosis (PGT-A) of the embryos. This strategy revealed that only 1 of the 13 tested embryos exhibited mosaic trisomy.…”

“…In addition to questions related to the impact of intellectual disability and early dementia on parenting, another significant risk for individuals with DS would be the transmission of the pathology to their offspring. According to the literature data, all the children fathered by a man with DS (with or without ART) have been healthy [28]. In contrast, one out of three children born to a woman with DS themselves have DS [29].…”

Down Syndrome

“…Despite evidence of normal sexual development, there remain fewer than 50 cases of documented fertility in women with Down syndrome and four reported cases in non-mosaic males, one of whom achieved a pregnancy following preimplantation genetic screening (Aghajanova et al 2015). Potential contributors to infertility may be hormonal abnormalities, gonadal malformations, and psychological and social factors.…”

Resolving Paradoxes of Robertsonian Translocations

“…Currently, infertility due to chromosomal abnormalities, with the corresponding pathologies of spermatogenesis, is overcome by reproductive technologies, and, paradoxically, it is possible that it is in male HT carriers with infertility that there is a chance to have a healthy offspring. For example, encouraging results were obtained using reproductive technologies for the production of healthy children from male carriers of trisomy 21 [71,72].…”