ArticleHuman reproduction (Oxford, England)2020
The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report.
Article in Human reproduction (Oxford, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- Evidence-based clinical prioritization of embryos with mosaic results: a systematic review and meta-analysis.Journal of assisted reproduction and genetics · 2021Pooled it
- The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis.Genes · 2020Pooled it
- Cytogenetic and Microarray Analysis Follow-Up of PGT-A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of Confirmation and Follow-Up Recommendations.Prenatal diagnosis · 2026Article
- Healthy newborn delivered after very high segmental mosaic embryo transfer- a case report.Journal of assisted reproduction and genetics · 2026Article
- Influencing factors and clinical significance of mosaic embryos in preimplantation genetic testing.Journal of assisted reproduction and genetics · 2026Article
- The developmental potential of mosaic embryos involving two chromosomes may not be inferior to that of sibling euploid blastocysts from the same cohort: clinical reflections and implications from an uncommon case.Journal of assisted reproduction and genetics · 2026Article
- Case Report: Discordant genetic findings in miscarriage tissue following transfer of euploid embryos.Frontiers in reproductive health · 2026Article
- Reproductive outcomes of mosaic embryo transfers in preimplantation genetic testing for structural rearrangement cycles: a retrospective cohort study.Journal of assisted reproduction and genetics · 2026Article
- Article
- Prenatal Diagnosis of Paternal Uniparental Isodisomy 14 Arising From the Transfer of a Mosaic Monosomy 14 Embryo.Cureus · 2025Article
- In vitro fertilization as an option for couples with genetic disorders.Clinical and experimental reproductive medicine · 2025Article
- Time-lapse analysis of embryos classified as euploid, mosaic, and aneuploid after embryonic trophectoderm biopsy.Journal of assisted reproduction and genetics · 2025Article
- Prenatal Ultrasound Findings and Chromosomal Outcomes of Pregnancies with Mosaic Embryo Transfer.Diagnostics (Basel, Switzerland) · 2024Article
- Initially categorized 46,XY embryo transfer ending with 45,X products of conception-a case report and a review of discordant result management.F&S reports · 2024Article
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.BMC medical genomics · 2024Article
- Associations between the artificial intelligence scoring system and live birth outcomes in preimplantation genetic testing for aneuploidy cycles.Reproductive biology and endocrinology : RB&E · 2024Article
- Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission.Frontiers in genetics · 2024Article
- Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.Human reproduction open · 2024Article
- Healthy Live Births after the Transfer of Mosaic Embryos: Self-Correction or PGT-A Overestimation?Genes · 2023Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mosaic embryos have the potential to implant and develop into healthy babies. The transfer of mosaic embryos is now considered to be a possible option for women undergoing ART with preimplantation genetic testing for aneuploidies and in the absence of euploid embryos, particularly those with diminished ovarian reserve and/or advanced maternal age. It can aid in avoiding the discard of potentially viable embryos, which might otherwise result in healthy babies. In over 500 studies on mosaicism, there have been no reports of mosaicism in babies born following the transfer of mosaic embryos. Here, we present a case report of a 39-year-old woman with diminished ovarian reserve with only one blastocyst available for trophectoderm biopsy. The transfer of the embryo, which showed 35% mosaicism of monosomy 2, resulted in pregnancy. Amniocentesis revealed a mosaic trisomic mos46,XX(98)/47,XX,+2(2) karyotype. There were no pathological findings in detailed ultrasonography, and the fetus showed a normal fetal growth with no evidence of intrauterine growth retardation. A healthy female baby was born at Week 37. The peripheral blood chromosome analysis validated with fluorescence in situ hybridization showed 2% mosaic monosomy 2 [mos45,XX,-2(2)/46,XX(98)]. This is the first reported case of true fetal mosaicism resulting in a live birth following the transfer of a known mosaic embryo. Worldwide, prenatal diagnosis has shown the depletion of mosaicism in embryos transferred after they have been reported as mosaics. Our case demonstrates the need for close prenatal monitoring and diagnosis by early amniocentesis, preferably at >14 weeks gestation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.