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Jersey City, NJ, United States

Fedick A.,UMDNJ Robert Wood Johnson Medical School | Su J.,Reproductive Medicine Associates of New Jersey | Treff N.R.,UMDNJ Robert Wood Johnson Medical School
Genomics | Year: 2012

The high prevalence of genetic diseases resulting from gross deletions has highlighted a need for a quick, simple, and reliable method of genotyping these mutations. Here, we developed a novel strategy for applying TaqMan allelic discrimination to accurately genotype 3 different large deletions in a high-throughput manner. Allelic discrimination has previously been used to genotype frame shift and point mutations, and small insertions or deletions six base pairs in length, but not large deletions. The assays designed here recognize a 2502 base pair deletion in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the Gap Junction Protein, beta 6 (GJB6) gene that causes Hearing Loss, and a 6433 base pair deletion in the Mucolipin 1 (MCOLN1) gene responsible for causing Mucolipidosis IV Disease. This methodology may also be successfully applied to high throughput genotyping of other large deletions. © 2012 Elsevier Inc. Source

Kim T.J.,Reproductive Medicine Associates of New Jersey | Kim T.J.,Fertility Center | Hong S.W.,Fertility Center
Journal of Assisted Reproduction and Genetics | Year: 2011

Objective: To report a birth of a healthy boy after long-term cryopreservation of oocytes by vitrification. Design: Clinical application. Setting: IVF Center. Patient: A 17 year-old female with secondary pulmonary hypertension caused by transposition of great vessels visited our center in 2002, and she wished oocytes cryopreservation to avoid possible sterility after the following category X medication treatment. Intervention(s): Vitrified oocytes on Electron Microscope (EM) grids were warmed after 5 years of storage. Surviving MII oocytes were microinjected for fertilization and two embryos were transferred into a gestational carrier day 5 after microinjection. Main Outcome Measure(s): Survival, fertilization, cleavage, clinical pregnancy and delivery. Result(s): Eleven out of fourteen oocytes (78.6%) survived warming. Eight Metaphase II (MII) oocytes and 3 in vitro matured oocytes were microinjected; all 11 oocytes (100%) fertilized and 2 embryos were transferred on day 5. A healthy baby boy weighing 3,600 g was delivered at 38 weeks of gestation. Live-birth rates per warmed oocyte and per injected oocyte were 7.1% and 9.1% respectively. Conclusion(s): Cryopreservation after vitrification with EM grids maintained the developmental competence of oocytes after long-term storage and resulted in a successful live birth. © 2010 Springer Science+Business Media, LLC. Source

Treff N.R.,Reproductive Medicine Associates of New Jersey | Treff N.R.,University of New Brunswick | Treff N.R.,Rutgers University
Seminars in Reproductive Medicine | Year: 2012

An exciting era in preimplantation genetic diagnosis (PGD) is emerging with the adaptation and development of new high throughput genome-wide methodologies for the evaluation of aneuploidy. In fact, many promising preclinical studies and clinical trials involving comprehensive chromosome screening (CCS) have renewed clinician interest in the use of PGD for aneuploidy screening as an embryo selection tool to improve the success of in vitro fertilization (IVF). This review will provide an overview of the basic underlying features and applications of the growing number of platforms and strategies for preimplantation genome-wide analysis of aneuploidy. Copyright © 2012 by Thieme Medical Publishers, Inc. Source

Franasiak J.M.,Rutgers University | Forman E.J.,Rutgers University | Hong K.H.,Rutgers University | Werner M.D.,Rutgers University | And 3 more authors.
Fertility and Sterility | Year: 2014

Objective To determine the relationship between the age of the female partner and the prevalence and nature of human embryonic aneuploidy. Design Retrospective. Setting Academic. Patient(s) Trophectoderm biopsies. Intervention(s) Comprehensive chromosomal screening performed on patients with blastocysts available for biopsy. Main Outcome Measure(s) Evaluation of the impact of maternal age on the prevalence of aneuploidy, the probability of having no euploid embryos within a cohort, the complexity of aneuploidy as gauged by the number of aneuploid chromosomes, and the trisomy/monosomy ratio. Result(s) Aneuploidy increased predictably after 26 years of age. A slightly increased prevalence was noted at younger ages, with >40% aneuploidy in women 23 years and under. The no euploid embryo rate was lowest (2% to 6%) in women aged 26 to 37, was 33% at age 42, and was 53% at age 44. Among the biopsies with aneuploidy, 64% involved a single chromosome, 20% two chromosomes, and 16% three chromosomes, with the proportion of more complex aneuploidy increasing with age. Finally, the trisomy/monosomy ratio approximated 1 and increased minimally with age. Conclusion(s) The lowest risk for embryonic aneuploidy was between ages 26 and 30. Both younger and older age groups had higher rates of aneuploidy and an increased risk for more complex aneuploidies. The overall risk did not measurably change after age 43. Trisomies and monosomies are equally prevalent. © 2014 American Society for Reproductive Medicine, Published by Elsevier Inc. Source

Gardner D.K.,University of Melbourne | Meseguer M.,Laboratorio FIV | Rubio C.,Igenomix And Fundacion Instituto Valenciano Of Infertilidad Fivi Incliva | Treff N.R.,Reproductive Medicine Associates of New Jersey
Human Reproduction Update | Year: 2015

BACKGROUND: Transfer of more than a single embryo in an IVF cycle comes with the finite possibility of a multiple gestation. Even a twin pregnancy confers significant risk to both mother and babies. The move to single-embryo transfer for all patients will be greatly facilitated by the ability to quantify embryo viability. Developments in time-lapse incubation systems have provided new insights into the developmental kinetics of the human preimplantation embryo. Advances in molecular methods of chromosomal analysis have created platforms for highly effective screening of biopsied embryos, while noninvasive analysis of embryo physiology reveals more about the embryo than can be determined by morphology alone. METHODS: Recent developments in time-lapse microscopy, molecular karyotyping and in proteomics and metabolomics have been assessed and presented here in a descriptive review. RESULTS AND CONCLUSIONS: New algorithms are being created for embryo selection based on their developmental kinetics in culture, and the impact of factors such as patient etiology and treatment are being clarified. Potential links between morphokinetic data and embryo karyotype are being elucidated. The introduction of new molecular methods of determining embryo chromosomal complement is proving to be accurate and reproducible, with the future trending toward CGH arrays or next generation sequencing as a rapid and reliable means of analysis, that should be suitable for each IVF clinic to adopt. A relationship between embryo metabolism and viability is established and is now being considered together with morphokinetic data to create more robust algorithms for embryo selection. Microfluidic devices have the capacity and potential to be used in human IVF clinics for the routine diagnosis of embryo biomarkers. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. Source

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