Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review

Autor: Firuza R Parikh, Arundhati S Athalye, Dhananjaya K Kulkarni, Rupesh R Sanap, Suresh B Dhumal, Dhanashree J Warang, Dattatray J Naik, Prochi F Madon

Publikováno v: Journal of Human Reproductive Sciences, Vol 14, Iss 4, Pp 329-339 (2021)

Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by fluorescent in situ hybridisation for a

Externí odkaz: https://doaj.org/article/e92e4ec3f6dd4d1cb7b0fd41c3568520

First Successful Pregnancy After Pre-implantation Genetic Diagnosis by FISH for an Inversion Together with a Cryptic Translocation in India

Autor: Arundhati S. Athalye, Firuza R. Parikh, Dattatray J. Naik, Prochi F. Madon, Rupesh R. Sanap, Nandkishor J. Naik, Trupti Mehta

Publikováno v: Journal of Fetal Medicine. :25-30

The technique of pre-implantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH) in cases of repeated miscarriages due to parental balanced inversions and translocations is relatively new in India. In a couple with a history of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0973741cbc4fb8523a095735716bff93
https://doi.org/10.1007/s40556-016-0078-y

Prenatal diagnosis and preimplantation genetic diagnosis in hematological disorders - a preliminary data from India

Autor: Arundhati S. Athalye, Firuza R. Parikh, Prochi F. Madon, Padyal Pm, Rupesh R. Sanap, Nair Sb, Warang Dj

Publikováno v: Journal of Translational Science. 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5f86a1866ba27d8fc4cbd4ff9a8354ac
https://doi.org/10.15761/jts.1000232

Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren's Syndrome: The First Case Report from India

Autor: Prochi F. Madon, Dhanashree Warang, Rupesh R. Sanap, Firuza R. Parikh, Boman N. Dhabhar, Mahendra B. Sute, Amit A. Mahabale, Arundhati S. Athalye

Publikováno v: Case Reports in Genetics
Case Reports in Genetics, Vol 2013 (2013)

Sjögren’s syndrome (SS) is a chronic slowly progressive autoimmune disorder characterized by symptoms of oral and ocular dryness, exocrine dysfunction, and lymphocytic infiltration of exocrine glands. Multiple myeloma (MM) is a bone-marrow-based m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c70b750ad328ec2143b1bbe8d7f391
http://europepmc.org/articles/PMC3562653

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).

Autor: Parikh F; Department of Assisted Reproduction and Genetics, Jaslok-FertilTree International Fertility Centre, Jaslok Hospital and Research Centre, Mumbai, India., Athalye A; Department of Assisted Reproduction and Genetics, Jaslok-FertilTree International Fertility Centre, Jaslok Hospital and Research Centre, Mumbai, India., Madon P; Department of Assisted Reproduction and Genetics, Jaslok-FertilTree International Fertility Centre, Jaslok Hospital and Research Centre, Mumbai, India., Khandeparkar M; Department of Assisted Reproduction and Genetics, Jaslok-FertilTree International Fertility Centre, Jaslok Hospital and Research Centre, Mumbai, India., Naik D; Department of Assisted Reproduction and Genetics, Jaslok-FertilTree International Fertility Centre, Jaslok Hospital and Research Centre, Mumbai, India., Sanap R; Department of Assisted Reproduction and Genetics, Jaslok-FertilTree International Fertility Centre, Jaslok Hospital and Research Centre, Mumbai, India., Udumudi A; GeneTech Laboratory, Banjara Hills, Hyderabad, India.

Publikováno v: Frontiers in reproductive health [Front Reprod Health] 2023 Dec 15; Vol. 5, pp. 1213546. Date of Electronic Publication: 2023 Dec 15 (Print Publication: 2023).