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Newborn Screening for CAH and TSH

The document outlines key markers in newborn genetics screening, including TSH for congenital hypothyroidism, 17OHP for congenital adrenal hyperplasia, and hemoglobinopathies like sickle cell disease and thalassemia. It emphasizes the importance of early detection and treatment to prevent severe health issues. Additionally, it describes the ELISA testing method and GSP photometric analysis used to measure these markers.

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14 views1 page

Newborn Screening for CAH and TSH

The document outlines key markers in newborn genetics screening, including TSH for congenital hypothyroidism, 17OHP for congenital adrenal hyperplasia, and hemoglobinopathies like sickle cell disease and thalassemia. It emphasizes the importance of early detection and treatment to prevent severe health issues. Additionally, it describes the ELISA testing method and GSP photometric analysis used to measure these markers.

Uploaded by

aditikumar0702
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as DOCX, PDF, TXT or read online on Scribd

Genetics Screening Lab: Reference

Notes
1. TSH (Thyroid-Stimulating Hormone) Markers in Newborns
- TSH is screened to detect congenital hypothyroidism (CH), which affects thyroid hormone
production.
- TSH stimulates the thyroid to release T3 and T4, vital for brain development.
- Normal TSH is <10 mIU/L; values >20 mIU/L require further testing.
- Early treatment prevents irreversible intellectual disability.

2. 17OHP (17-Hydroxyprogesterone) Markers in Newborns


- Elevated 17OHP indicates Congenital Adrenal Hyperplasia (CAH), mostly due to 21-
hydroxylase deficiency.
- 17OHP accumulates and is shunted into androgen production.
- Males are more sensitive because symptoms (salt-wasting crisis) may occur without
visible signs.
- Females are often diagnosed earlier due to ambiguous genitalia, not because they tolerate
higher levels better.

3. Hemoglobinopathies
- Normal types: HbF (fetal), HbA (adult), HbA2 (minor adult type).
- Common disorders:
* Sickle Cell (HbSS): Mutation Glu → Val in beta chain.
* Beta Thalassemia: Reduced/absent beta chain production.
* Alpha Thalassemia: Severity varies by number of affected alpha genes.
- Caused by point mutations or deletions in globin genes.

4. ELISA Plate Testing and GSP Photometric Analysis


- ELISA uses antibodies to detect specific analytes like TSH and 17OHP.
- Sample binds to antibody-coated wells, followed by enzyme-conjugated secondary
antibody.
- Substrate is added to produce a color change.
- GSP photometer measures optical density (OD) at a set wavelength.
- OD is used to calculate analyte concentration using a standard curve.

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