Healthy euploid dizygotic twin birth after transfer of non-mosaic aneuploid embryos.

Abstract

To report the first set of healthy euploid twin girls born following the transfer of three non-mosaic aneuploid, female embryos screened by preimplantation genetic testing for aneuploidy (PGT-A).Case report.University-affiliated fertility center.A 42-year-old female patient and 49-year-old male partner desiring a female child pursued in vitro fertilization (IVF) with next generation sequencing (NGS)-based PGT-A for family balancing after the death of their daughter.Transfer of three aneuploid female and one euploid male embryos, following REI practice consensus, genetic counseling, and informed consent.Prenatal, neonatal, and childhood outcomes following the transfer of aneuploid embryos.The patient conceived a dichorionic, diamniotic twin pregnancy. Vaginal delivery occurred at 36 weeks gestation following preterm premature rupture of membranes (PPROM). Postnatal karyotype and chromosomal microarray (CMA) on peripheral blood of both twins confirmed normal female chromosomes in both infants. Comparison of CMA copy number variants (CNVs) and single nucleotide polymorphism (SNP) patterns suggest the twins are dizygotic. The twins are now nearly seven years of age and healthy without developmental concerns.This is a case of a couple who made the informed decision to undergo transfer of multiple aneuploid embryos, ultimately leading to the birth of healthy dizygotic twin girls. Due to the limitations of case reports, larger prospective studies are needed to understand the frequency of euploid live birth after aneuploid embryo transfer, as well as the long-term health outcomes of such children. This case inspired the development of the Transfer of Aneuploid and Mosaic Embryo (TAME) study.

View details for DOI 10.1016/j.fertnstert.2025.06.033

View details for PubMedID 40578663