Birth of a healthy child after pre-implantation genetic screening of embryos from sperm of a man with nonmosaic Down syndrome

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 Authors