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Newborn screening awareness month part 2

In my last blog post I posted about new born screening including a list of some of the diseases and disorders screened for at birth with new born screening. Today is part 2 to that blog post. This post dedicated to “September is newborn screening awareness month ” theme , I am posting some of the conditions screened for specifically in Canada.

They are as follows, ( source; http://www.newbornscreening.on.ca/bins/content_page.asp?cid=7-21&lang=1 )

 

Argininosuccinic Acidemia (ASA) – Amino Acid Disorder

ß-Ketothiolase (BKT) Deficiency – Organic Acid Disorders

Biotinidase Deficiency

Carnitine Uptake Defect (CUD) – Fatty Acid Oxidation Defect (FAOD) 

Citrullinemia – Amino Acid Disorder

Congenital Adrenal Hyperplasia (CAH) – Endocrine Disorder

Congenital Hypothyroidism (CH) – Endocrine Disorder

Cystic Fibrosis (CF)

Galactosemia

Glutaric Acidemia Type I (GAI) – Organic Acid Disorder

Hemoglobinopathies : Sickle Cell Disease (HbSS, HbSC or HbS/ß-Thalassemia)

HMG-CoA Lyase Deficiency– Organic Acid Disorder

Homocystinuria – Amino Acid Disorder

Isovaleric Acidemia (IVA) – Organic Acid Disorder

LCHAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

Maple Syrup Urine Disease (MSUD) – Amino Acid Disorder

MCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency – Organic Acid Disorder

Methylmalonic Acidemia (MUT, Cbl) – Organic Acid Disorders

Multiple Carboxylase Deficiency (MCD) – Organic Acid Disorders

Phenylketonuria (PKU) – Amino Acid Disorder

Propionic Acidemia (PA) – Organic Acid Disorder

Trifunctional Protein (TFP) Deficiency – Fatty Acid Oxidation Defect (FAOD)

Tyrosinemia (Type I) – Amino Acid Disorder

VLCAD Deficiency – Fatty Acid Oxidation Defect (FAOD)

Severe Combined Immune Deficiency (SCID) 

 

For more information on these disorders/ diseases and condtions, I have left the links embedded in the text, or copy and paste the source link at the top.

Here in British Columbia , Canada,  babies screened do also  have there heels pricked and the blood placed on the filter paper than sent to the newborn screening lab at BC Children’s hospital. This is also where PKU patients send there home monitoring phe blood dot tests. We use the same filter paper as the babies.  For PKU we get our blood phe level back within or around 10 days. Babies screened for at birth can take up to 2 weeks depending where in BC they live. Once a test comes back positive, a phone call is made to the family and they are sent to BC children’s hospital for further testing, education , support , treatments and more.

I am sad to say newborn screening is not mandatory in all provinces, or even in all countries around the world. So like I said in my previous post, it is the job of the health care workers, doctors, nurses , social workers ect ect to educate new parents on the importance of newborn screening. But as well , it is also our job! each and every single one of us, dont wait till its to late.

Newborn screening saves lives, and it saved mine. Please be sure to educate your friends and your family. This is such an important message.

Thank you,

Amanda


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One thought on “Newborn screening awareness month part 2

  1. Hey Amanda, Great blog post! Newborn screening is so important, as you know. Just wanted to clarify that the list of links you posted relates to conditions on the Ontario newborn screening panel. While there is a lot of overlap between the provinces, each province determines what they test for. Each province has information online on their provincial newborn screening program website. The one for BC can be found here: http://www.bcwomens.ca/Services/PregnancyBirthNewborns/NewbornCare/NewbornScreeningProgram/default.htm

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