Current recommendations: Screening for Mendelian disorders
| Autor: | Nancy C. Rose, Myra J. Wick |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Alternative medicine Ethnic group Single gene 030105 genetics & heredity Bioinformatics 03 medical and health sciences symbols.namesake Neonatal Screening 0302 clinical medicine Pregnancy Prenatal Diagnosis Ethnicity medicine Humans Genetic Testing Mendelian disorders 030219 obstetrics & reproductive medicine business.industry Genetic Carrier Screening Genetic Diseases Inborn Infant Newborn High-Throughput Nucleotide Sequencing Obstetrics and Gynecology Sequence Analysis DNA Family medicine Healthy individuals Practice Guidelines as Topic Pediatrics Perinatology and Child Health Mendelian inheritance symbols Female Preconception Care business Carrier screening |
| Zdroj: | Seminars in Perinatology. 40:23-28 |
| ISSN: | 0146-0005 |
| DOI: | 10.1053/j.semperi.2015.11.004 |
| Popis: | Over the last 50 years, screening for Mendelian disorders has progressed from screening of neonates for phenylketonuria (PKU) to screening of healthy individuals in the preconception or prenatal setting for more than 100 disorders. Traditional carrier screening has been based on ethnicity, and, as ethnic distinctions become less defined, the ability to screen effectively has become increasingly more limited. At the same time, advances in molecular technology have produced large screening panels without reliance on ethnicity. This article outlines the historical and traditional use of single gene carrier screening. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect