Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR

The Analyst ◽  
2016 ◽  
Vol 141 (1) ◽  
pp. 285-290 ◽  
Author(s):  
Huan Huang ◽  
Shuo Li ◽  
Shuolian Lu ◽  
Hongshan Ge ◽  
Lizhou Sun
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Starting Material ◽  
Inexpensive Method ◽  
Single Gene Disorders

A rapid and inexpensive method for fetal genetic diagnosis using amniotic fluid (AF) as the starting material was demonstrated in this study.

Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States

2009 ◽  
Vol 92 (5) ◽  
pp. 1544-1556 ◽  
Author(s):  
Cristina Gutiérrez-Mateo ◽  
Jorge F. Sánchez-García ◽  
Jill Fischer ◽  
Sophia Tormasi ◽  
Jacques Cohen ◽  
...  
Keyword(s):  
United States ◽  
Preimplantation Genetic Diagnosis ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
The United States ◽  
Reference Laboratory ◽  
Single Gene Disorders

scholarly journals Pilot Study of Return of Genetic Results to Patients in Adult Nephrology

2020 ◽  
Vol 15 (5) ◽  
pp. 651-664 ◽  
Author(s):  
Jordan G. Nestor ◽  
Maddalena Marasa ◽  
Hila Milo-Rasouly ◽  
Emily E. Groopman ◽  
S. Ali Husain ◽  
...  
Keyword(s):  
Single Gene ◽  
Qualitative Interviews ◽  
Genetic Diagnosis ◽  
Return Of Results ◽  
Biobank Research ◽  
Single Gene Disorders ◽  
Management Recommendations ◽  
Study Participants ◽  
Improving Patient Care ◽  
Genetic Results

Background and objectivesActionable genetic findings have implications for care of patients with kidney disease, and genetic testing is an emerging tool in nephrology practice. However, there are scarce data regarding best practices for return of results and clinical application of actionable genetic findings for kidney patients.Design, setting, participants, & measurementsWe developed a return of results workflow in collaborations with clinicians for the retrospective recontact of adult nephrology patients who had been recruited into a biobank research study for exome sequencing and were identified to have medically actionable genetic findings.ResultsUsing this workflow, we attempted to recontact a diverse pilot cohort of 104 nephrology research participants with actionable genetic findings, encompassing 34 different monogenic etiologies of nephropathy and five single-gene disorders recommended by the American College of Medical Genetics and Genomics for return as medically actionable secondary findings. We successfully recontacted 64 (62%) participants and returned results to 41 (39%) individuals. In each case, the genetic diagnosis had meaningful implications for the patients’ nephrology care. Through implementation efforts and qualitative interviews with providers, we identified over 20 key challenges associated with returning results to study participants, and found that physician knowledge gaps in genomics was a recurrent theme. We iteratively addressed these challenges to yield an optimized workflow, which included standardized consultation notes with tailored management recommendations, monthly educational conferences on core topics in genomics, and a curated list of expert clinicians for patients requiring extranephrologic referrals.ConclusionsDeveloping the infrastructure to support return of genetic results in nephrology was resource-intensive, but presented potential opportunities for improving patient care.PodcastThis article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2020_04_16_12481019.mp3

Usage of karyomapping for preimplantation genetic diagnosis (PGD) of complex single gene disorders (sgds)

2014 ◽  
Vol 102 (3) ◽  
pp. e175
Author(s):  
R. Prates ◽  
A. Jordan ◽  
G. Rosen ◽  
M. DiMattina ◽  
S. Chen ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Single Gene Disorders

Prenatal Diagnosis of Single Gene Disorders in Northern Finland

1990 ◽  
Vol 22 (2) ◽  
pp. 123-129 ◽  
Author(s):  
Jaakko Leisti ◽  
Pentti Jouppila ◽  
Aki Mustonen ◽  
Marketta Kähkönen ◽  
Riitta Herva ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Single Gene Disorders
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