Results 51 to 60 of about 24,789 (220)

Experience of more than 100 preimplantation genetic diagnosis cycles for monogenetic diseases using whole genome amplification and linkage analysis in a single centre [PDF]

, 2015
published_or_final_versio
Chow, JFC, Ho, PC, Lau, EYL, Lee, VCY, Ng, EHY, Yeung, WSB   +5 more
core   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

Taiwanese Journal of Obstetrics & Gynecology, 2014
Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo ...
Chun-Kai Chen, Hsing-Tse Yu, Yung-Kuei Soong, Chyi-Long Lee   +3 more
doaj   +1 more source

Cochlear Implantation in Autoimmune Inner‐Ear Disease: Outcome and Patient‐Reported Benefit

The Laryngoscope, EarlyView.
This study demonstrates that patients with secondary autoimmune inner‐ear disease (AIED) achieve significant improvements in speech perception and quality of life following cochlear implantation. Although AIED patients may show slightly lower performance in noisy environments compared to controls, their subjective hearing benefit converges with matched
Merete Hartmann, David Oestreicher, Marc Albert Hüser, Dirk Beutner, Christian Wrobel   +4 more
wiley   +1 more source

Preimplantation Diagnosis of Thalassemias [PDF]

Journal of Assisted Reproduction and Genetics, 1998
Preimplantation genetic diagnosis (PGD) is an important option for couples at risk of having children with beta-globin mutations to avoid selective abortions of affected fetuses following prenatal diagnosis.We performed PGD for thalassemia in 12 clinical cycles (IVS1-110, and IVS-745 mutations) using biopsy of the first and second polar bodies (PBs ...
A, Kuliev, S, Rechitsky, O, Verlinsky, V, Ivakhnenko, S, Evsikov, G, Wolf, M, Angastiniotis, D, Georghiou, V, Kukharenko, C, Strom, Y, Verlinsky   +10 more
openaire   +2 more sources

Preventable Hazards from in Vitro Fertilization – A Case Series of CF Patients from Bulgaria

Balkan Journal of Medical Genetics, 2023
Pre-implantation genetic diagnosis (PGD) is not often performed when donor gametes are used, due to its high cost. This is with the presumption that the donors are healthy.
Yaneva N, Baycheva M, Kostova P, Papochieva V, Mileva S, Miteva D, Savov A, Petrova G   +7 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review

Oman Medical Journal
Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes.
Ngoc Bich Trinh, Anh Dinh Bao Vuong, Phuc Nhon Nguyen   +2 more
doaj   +1 more source

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Diagnostics, 2021
Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI).
Hsin-Lin Chen, Pei-Hsuan Lin, Yu-Ting Chiang, Wen-Jie Huang, Chi-Fang Lin, Gwo-Chin Ma, Shun-Ping Chang, Jun-Yang Fan, Shin-Yu Lin, Chen-Chi Wu, Ming Chen   +10 more
doaj   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source