The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report.

Human Reproduction
Semra KahramanCaroline Pirkevi Cetinkaya

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...Continue Reading

References

Apr 24, 2003·Reproductive Biomedicine Online·Santiago MunnéJacques Cohen
Nov 13, 2004·Fetal Diagnosis and Therapy·Stavros SifakisEugenios Koumantakis
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rena E Falk, Kari A Casas
Apr 21, 2011·Human Reproduction·A P FerrarettiUNKNOWN ESHRE working group on Poor Ovarian Response Definition
Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Feb 12, 2014·Journal of Visualized Experiments : JoVE·Bradley HoweFern Tsien
Mar 29, 2014·Human Reproduction Update·Tyl H TaylorDarren K Griffin
Nov 19, 2015·The New England Journal of Medicine·Ermanno GrecoFrancesco Fiorentino
Jun 11, 2016·American Journal of Medical Genetics. Part a·Gene S FischSarah South
Jul 20, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Esra TuğAykut Özek
Apr 24, 2017·Fertility and Sterility·Maria Vera-Rodriguez, Carmen Rubio
May 10, 2017·Fertility and Sterility·Gary L HartonFrancesco Fiorentino
Dec 2, 2017·Fertility and Sterility·Francesca SpinellaErmanno Greco
Feb 13, 2018·Reproductive Biomedicine Online·Francesca Romana GratiYuval Yaron
May 15, 2019·European Journal of Medical Genetics·Karolina VargaAttila Vereczkey

❮ Previous
Next ❯

Citations

Jun 25, 2020·International Journal of Molecular Sciences·Ermanno GrecoPaolo Barillari
Dec 12, 2020·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Baiba AlksereVioleta Fodina
Jan 10, 2021·Journal of Assisted Reproduction and Genetics·Maryam QasemiFardin Amidi
Dec 12, 2020·Reproductive Biomedicine Online·Crystal ChanRhonda Zwingerman
Feb 10, 2021·Fertility and Sterility·K C Humm, D Frankfurter
May 9, 2021·Reproductive Biomedicine Online·Kun-Long HuangKuo-Chung Lan
May 14, 2021·Human Reproduction Update·Geerke M EggenhuizenRobert Jan Galjaard
Jun 3, 2021·Journal of Developmental Biology·Ioanna BoubaIoannis Georgiou
Jun 17, 2021·Human Reproduction Update·Giovanni CoticchioAlison Campbell
Aug 11, 2021·Fertility and Sterility·Andria G BesserJames A Grifo
Sep 3, 2021·Journal of Assisted Reproduction and Genetics·Ali MouradWael Jamal

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
biopsy

Software Mentioned

Ion Reporter

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.