The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report
| Autor: | Beril Yuksel, Semra Kahraman, Murat Cetinkaya, Mesut Yesil, Caroline Pirkevi Çetinkaya |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Monosomy mosaic embryo transfer Prenatal diagnosis Case Report Andrology 03 medical and health sciences 0302 clinical medicine Pregnancy medicine Humans Advanced maternal age In Situ Hybridization Fluorescence Preimplantation Diagnosis 030304 developmental biology baby with mosaicism 0303 health sciences Fetus true fetal mosaicism 030219 obstetrics & reproductive medicine medicine.diagnostic_test business.industry Mosaicism Rehabilitation Obstetrics and Gynecology High-Throughput Nucleotide Sequencing Reproductive Genetics medicine.disease Embryo Transfer Embryo transfer Reproductive Medicine embryonic structures Amniocentesis Gestation next-generation sequencing Female business preimplantation genetic testing |
| Zdroj: | Human Reproduction (Oxford, England) |
| ISSN: | 1460-2350 0268-1161 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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