Results 51 to 60 of about 85,115,453 (207)

Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]

, 2011
Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Paul Brezina, Raymond Anchan, Kevin Richter, Ric Ross, Andrew Benner, William Kearns, Andrew Barker, Khanh-Ha Nguyen, Garry Cutting   +8 more
core  

Does ICSI for in vitro fertilization cause more aneuploid embryos?

Molecular Cytogenetics, 2020
Background High proportion of human embryos produced by in vitro fertilization (IVF) is aneuploidy. Many factors are related to the prevalence of embryonic aneuploidies, such as maternal age, sperm quality, and in vitro manipulation of oocytes.
Xiangli Niu, Jiamin Long, Fangqiang Gong, Weihua Wang   +3 more
doaj   +1 more source

Evaluation of a novel non-invasive preimplantation genetic screening approach. [PDF]

PLoS ONE, 2018
OBJECTIVE:To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non ...
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach   +6 more
doaj   +1 more source

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

Andrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report

Egyptian Journal of Medical Human Genetics
Background Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A).
Lama Khudari, Marwan Halabi, Sahar Al Fahoum   +2 more
doaj   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Chromosome segregation and recombination in human meiosis: Clinical applications and insight into disjunction errors [PDF]

, 2015
Chromosome copy number errors (or aneuploidy) of gametes and embryos occurs in humans more frequently than in any other studied species, with a spectrum of manifestations from implantation failure to affected live births.
Ottolini, Christian Simon, The Bridge Centre Ltd, UK   +1 more
core  

Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication

Molecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.
Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Rhiannon Sandow, Gunjan Garg
wiley   +1 more source

Better to Be Lucky Than Good: How Clinicians and Patients Frame Medical Outcomes

Sociology of Health &Illness, Volume 48, Issue 8, November 2026.
ABSTRACT Notions of good or bad luck sit uncomfortably in contemporary medical practice defined by efforts to control life through biomedical knowledge and skilled expertise. Yet, talk about luck is common in healthcare to explain medical courses of action.
Eliza Brown, Stefan Timmermans
wiley   +1 more source

Preimplantation genetic testing for aneuploidy: predictive embryonic factors. [PDF]

J Assist Reprod Genet
In a preimplantation genetic testing for aneuploidy (PGT-A) cycle, does the blastocyst quality before biopsy, or the day of biopsy, or the embryo hatching status have an impact on either euploidy or the rate of embryo survival after freezing?This was a retrospective study including 6130 biopsied blastocysts coming from 1849 PGT-A cycles performed in ...
Florensa M, Cladellas A, Ballesteros A, Esbert M.   +3 more
europepmc   +3 more sources