A New Year’s baby’s newborn screening

• January 11th, 2007

From Bertalan Meskó at Scienceroll

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The benefits of screening for MCAD

• January 5th, 2007

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase defi ciency in Australia: a cohort study
Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh
Lancet 2007; 369: 37–42

This large australian study compared a population of children who were screened for MCAD and an unscreened population. One of the adavntage of this study over others on the same topic is that they have taken into consideration clinically diagnosed contemporaneous patients born in states where no MCAD screening was performed. They can thus have a better assessment of the number of patients which are never diagnosed.

They have proven that screening for MCAD deficiency provides a reduction in mortality and morbidity.

For more information on MCAD deficiency, see OMMBID chapter 101.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Urinary screening for Fabry disease

• December 28th, 2006

Screening for Fabry disease on urine collected by filter paper might eventually become a reality with the method referred to in this short report:

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

C. Auray-Blais, D. Cyr, K. Mills, R. Giguère and R. Drouin

J Inherit Metab Dis, January 2007

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

• August 13th, 2006

Am. J. Hum. Genet., 79:000, 2006

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, and Robert J. Desnick
In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a high incidence of later-onset Fabry disease.

For more information on Fabry disease, see chapter 150 of OMMBID.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator