New Webpage from CFF for Positive Newborn Screening

L

LouLou

New member
Lisa, I think what you mean is that your children were diagnosed with genetic testing in the presence of symptoms, right? If not, why were they genetically tested? Given that they have two disease causing mutations perhaps the dr made a diagnosis with this alone but generally there have to be symptoms or a positive sweat or a sib with cf.
<br />
<br />This is exactly what I'm saying. I'm surprised if you were involved with this that you didn't push them more to address genetic testing as a diagnostic tool.
<br />
<br />The pages were riddled with less than perfect language. When speaking of testing it is worded in such a way that it does not empower the patient or the parents. It's written from the medical world perspective. Did Beth or any adult with cf help with this project? It just seems not very thorough...nothing like the info that is covered in the Adult best practices which I read for the first time linking from this page.
 
L

LouLou

New member
This is what I'm talking about

One or more typical phenotypic features of CF:

.Chronic sinopulmonary disease

.Characteristic gastrointestinal and nutritional abnormalities

.Salt loss syndromes

.Obstructive azoospermia

or



A history of cystic fibrosis in a sibling



or



A positive newborn screening test



PLUS





An elevated sweat chloride concentration (greater than 60 meq/L) on two or more occasions



or



Identification of mutations in each cystic fibrosis transmembrane conductance regulator (CFTR) protein gene known to cause CF



or



In vivo demonstration of characteristic abnormalities in ion transport across the nasal epithelium



Clinical Manifestations of Cystic Fibrosis

.Respiratory

.Bronchiolitis / asthma

.Psudomonas aeruginosa colonization of the respiratory tract

.Staphylococcal pneumonia

.Nasal polyposis

.Sinusitis

Gastrointestinal

.Meconium ileus

.Rectal prolapse

.Recurrent abdominal pain and/or right lower quadrant mass

.Hypoproteinemic edema

.Prolonged neonatal jaundice

.Biliary cirrhosis with portal hypertension

.Vitamin deficiency states (A, D, E, K)

.Acrodermatitis enterophatica-like eruption with fatty acid and zinc deficiency

.Recurrent pancreatitis

.Volvulus in fetal life

Genitourinary

.Congenital bilateral absence of the vas deferens (CBAVD)

.Male infertility

.Female infertility

Other

.Hypochloremic, hyponatremic alkalosis

.Mother of child with cystic fibrosis

.Pseudotumor cerebri



References:

1.Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:5121-88.

2.Welsh MJ, Fick RB. Cystic fibrosis. J Clin Invest. 1987 Dec;80(6):1523-6. [Medline]

3.Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr. 1998 Apr;132(4):589-95. [Medline]
 
L

LouLou

New member
This is what I'm talking about

One or more typical phenotypic features of CF:

.Chronic sinopulmonary disease

.Characteristic gastrointestinal and nutritional abnormalities

.Salt loss syndromes

.Obstructive azoospermia

or



A history of cystic fibrosis in a sibling



or



A positive newborn screening test



PLUS





An elevated sweat chloride concentration (greater than 60 meq/L) on two or more occasions



or



Identification of mutations in each cystic fibrosis transmembrane conductance regulator (CFTR) protein gene known to cause CF



or



In vivo demonstration of characteristic abnormalities in ion transport across the nasal epithelium



Clinical Manifestations of Cystic Fibrosis

.Respiratory

.Bronchiolitis / asthma

.Psudomonas aeruginosa colonization of the respiratory tract

.Staphylococcal pneumonia

.Nasal polyposis

.Sinusitis

Gastrointestinal

.Meconium ileus

.Rectal prolapse

.Recurrent abdominal pain and/or right lower quadrant mass

.Hypoproteinemic edema

.Prolonged neonatal jaundice

.Biliary cirrhosis with portal hypertension

.Vitamin deficiency states (A, D, E, K)

.Acrodermatitis enterophatica-like eruption with fatty acid and zinc deficiency

.Recurrent pancreatitis

.Volvulus in fetal life

Genitourinary

.Congenital bilateral absence of the vas deferens (CBAVD)

.Male infertility

.Female infertility

Other

.Hypochloremic, hyponatremic alkalosis

.Mother of child with cystic fibrosis

.Pseudotumor cerebri



References:

1.Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:5121-88.

2.Welsh MJ, Fick RB. Cystic fibrosis. J Clin Invest. 1987 Dec;80(6):1523-6. [Medline]

3.Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr. 1998 Apr;132(4):589-95. [Medline]
 
L

LouLou

New member
This is what I'm talking about
<br />
<br />One or more typical phenotypic features of CF:
<br />
<br />.Chronic sinopulmonary disease
<br />
<br />.Characteristic gastrointestinal and nutritional abnormalities
<br />
<br />.Salt loss syndromes
<br />
<br />.Obstructive azoospermia
<br />
<br /> or
<br />
<br />
<br />
<br />A history of cystic fibrosis in a sibling
<br />
<br />
<br />
<br /> or
<br />
<br />
<br />
<br />A positive newborn screening test
<br />
<br />
<br />
<br /> PLUS
<br />
<br />
<br />
<br />
<br />
<br />An elevated sweat chloride concentration (greater than 60 meq/L) on two or more occasions
<br />
<br />
<br />
<br /> or
<br />
<br />
<br />
<br />Identification of mutations in each cystic fibrosis transmembrane conductance regulator (CFTR) protein gene known to cause CF
<br />
<br />
<br />
<br /> or
<br />
<br />
<br />
<br />In vivo demonstration of characteristic abnormalities in ion transport across the nasal epithelium
<br />
<br />
<br />
<br />Clinical Manifestations of Cystic Fibrosis
<br />
<br />.Respiratory
<br />
<br />.Bronchiolitis / asthma
<br />
<br />.Psudomonas aeruginosa colonization of the respiratory tract
<br />
<br />.Staphylococcal pneumonia
<br />
<br />.Nasal polyposis
<br />
<br />.Sinusitis
<br />
<br />Gastrointestinal
<br />
<br />.Meconium ileus
<br />
<br />.Rectal prolapse
<br />
<br />.Recurrent abdominal pain and/or right lower quadrant mass
<br />
<br />.Hypoproteinemic edema
<br />
<br />.Prolonged neonatal jaundice
<br />
<br />.Biliary cirrhosis with portal hypertension
<br />
<br />.Vitamin deficiency states (A, D, E, K)
<br />
<br />.Acrodermatitis enterophatica-like eruption with fatty acid and zinc deficiency
<br />
<br />.Recurrent pancreatitis
<br />
<br />.Volvulus in fetal life
<br />
<br />Genitourinary
<br />
<br />.Congenital bilateral absence of the vas deferens (CBAVD)
<br />
<br />.Male infertility
<br />
<br />.Female infertility
<br />
<br />Other
<br />
<br />.Hypochloremic, hyponatremic alkalosis
<br />
<br />.Mother of child with cystic fibrosis
<br />
<br />.Pseudotumor cerebri
<br />
<br />
<br />
<br />References:
<br />
<br />1.Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:5121-88.
<br />
<br />2.Welsh MJ, Fick RB. Cystic fibrosis. J Clin Invest. 1987 Dec;80(6):1523-6. [Medline]
<br />
<br />3.Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr. 1998 Apr;132(4):589-95. [Medline]
<br />
 
L

LisaGreene

New member
Hi Lauren,
Yes, you are right- my son had meconium ileus- so that is what triggered the genetic testing. There was no need for anything else (according to the docs at the time). But now, as I ponder this, I am very curious. I wonder if we should get one to see what the kids' chloride levels really are. Hmmm.

No, there wasn't an adult with CF on the web page panel and maybe there should have been! I'll mention it to them when we talk next and am sharing all of the feedback.

Thank you so much- you are very sharp. <img src="i/expressions/face-icon-small-happy.gif" border="0">
 
L

LisaGreene

New member
Hi Lauren,
Yes, you are right- my son had meconium ileus- so that is what triggered the genetic testing. There was no need for anything else (according to the docs at the time). But now, as I ponder this, I am very curious. I wonder if we should get one to see what the kids' chloride levels really are. Hmmm.

No, there wasn't an adult with CF on the web page panel and maybe there should have been! I'll mention it to them when we talk next and am sharing all of the feedback.

Thank you so much- you are very sharp. <img src="i/expressions/face-icon-small-happy.gif" border="0">
 
L

LisaGreene

New member
Hi Lauren,
<br />Yes, you are right- my son had meconium ileus- so that is what triggered the genetic testing. There was no need for anything else (according to the docs at the time). But now, as I ponder this, I am very curious. I wonder if we should get one to see what the kids' chloride levels really are. Hmmm.
<br />
<br />No, there wasn't an adult with CF on the web page panel and maybe there should have been! I'll mention it to them when we talk next and am sharing all of the feedback.
<br />
<br />Thank you so much- you are very sharp. <img src="i/expressions/face-icon-small-happy.gif" border="0">
<br />
 
M

mneville

Guest
Please add PGD...as a tool for parents who are struggling with the decision about future children...we can theoretically eliminate CF is we used this amazing technology..
 
M

mneville

Guest
Please add PGD...as a tool for parents who are struggling with the decision about future children...we can theoretically eliminate CF is we used this amazing technology..
 
M

mneville

Guest
Please add PGD...as a tool for parents who are struggling with the decision about future children...we can theoretically eliminate CF is we used this amazing technology..
 
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