Neonatal Diagnosis: Difference between revisions
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* Tandem mass spectrometry (MS/MS) | * Tandem mass spectrometry (MS/MS) | ||
Tandem mass spectrometry (MS/MS) - can screen for PKU and many other diseases simultaneously (up to 21 metabolic diseases).<ref>The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. Cipriano LE, Rupar CA, Zaric GS. Value Health. 2007 Mar-Apr;10(2):83-97. {http://www.ncbi.nlm.nih.gov/pubmed/17391418 PMID: 17391418]</ref> | |||
==Routine Screened Disorders== | |||
Biotinidase Deficiency (OMIM) | |||
Congenital Adrenal Hyperplasia (CAH) (OMIM) | |||
Congenital Hypothyroidism (CH) | |||
Congenital Toxoplasmosis | |||
Cystic Fibrosis (CF) (OMIM) | |||
Galactosemia (GAL) (OMIM) | |||
Homocystinuria (OMIM) | |||
Maple Syrup Urine Disease (MSUD) (MCAD | OMIM) | |||
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (OMIM) | |||
==Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)== | |||
MCAD deficiency is the most common inherited disorder of mitochondrial fatty acid oxidation in people from northern Europe. It is characterized by an intolerance to prolonged fasting and an inability to generate energy during periods of increased energy demand. The disorder can be severe to fatal in infants. | |||
The other disease characteristics include: recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. | |||
Gutherie test detected autosomal recessive metabolic disease affects about one in 10 000 people (UK). This mitochondrial protein is encoded by a nuclear gene on chromosome 1 (Gene map locus 1p31) and has a common mutation (985A>G) with a carrier rate of around one in 65.2. | |||
==Gene Tests== | |||
A new site developed by NIH "GeneTests" provides medical genetics information resources available at no cost to all interested persons. It contains educational information, a directory of genetic testing laboratories and links to other databases such as OMIM. | |||
'''Links:''' [http://www.genetests.org/ Gene Tests] | |||
==References== | ==References== | ||
Revision as of 23:27, 23 April 2010
Introduction
In the early 1950's Virginia Apgar published the research article that was the basis of a simple diagnostic test, the 10-point Apgar score, for neonatal well-being at birth that continues to be used today.
There are a number of different neonatal screening (newborn screening) programs in different countries testing for various "common" abnormalities and infections. In addition to the Gutherie test there are also physical tests for hip displasia and a growing number of countries testing of newborn hearing.
- APGAR test
- Gutherie test
- Hearing test
- Electrocardiogram (ECG/EKG)
- Tandem mass spectrometry (MS/MS)
Tandem mass spectrometry (MS/MS) - can screen for PKU and many other diseases simultaneously (up to 21 metabolic diseases).[1]
Routine Screened Disorders
Biotinidase Deficiency (OMIM)
Congenital Adrenal Hyperplasia (CAH) (OMIM)
Congenital Hypothyroidism (CH)
Congenital Toxoplasmosis
Cystic Fibrosis (CF) (OMIM)
Galactosemia (GAL) (OMIM)
Homocystinuria (OMIM)
Maple Syrup Urine Disease (MSUD) (MCAD | OMIM)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (OMIM)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
MCAD deficiency is the most common inherited disorder of mitochondrial fatty acid oxidation in people from northern Europe. It is characterized by an intolerance to prolonged fasting and an inability to generate energy during periods of increased energy demand. The disorder can be severe to fatal in infants.
The other disease characteristics include: recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels.
Gutherie test detected autosomal recessive metabolic disease affects about one in 10 000 people (UK). This mitochondrial protein is encoded by a nuclear gene on chromosome 1 (Gene map locus 1p31) and has a common mutation (985A>G) with a carrier rate of around one in 65.2.
Gene Tests
A new site developed by NIH "GeneTests" provides medical genetics information resources available at no cost to all interested persons. It contains educational information, a directory of genetic testing laboratories and links to other databases such as OMIM.
Links: Gene Tests
References
- ↑ The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. Cipriano LE, Rupar CA, Zaric GS. Value Health. 2007 Mar-Apr;10(2):83-97. {http://www.ncbi.nlm.nih.gov/pubmed/17391418 PMID: 17391418]
Search PubMed: neonatal diagnosis | neonatal screening
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Cite this page: Hill, M.A. (2024, June 2) Embryology Neonatal Diagnosis. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Neonatal_Diagnosis
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
