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Genetic Screening

 

Genetic screening is voluntary offered to high risk population and identifies at risk individuals or families for a genetic disorder. Genetic screening screens unaffected individuals and should  have a confirmatory test  to follow.

Four types of screening tests are available. Population screening - where the risk is high enough in population like Thalassemia in Mediterranean region, or in ethnic groups, Prenatal screening - to pick up high risk foetuses for newborn or adult disorders, Neonatal screening - in newborns for treatable metabolic disorders, and Asymptomatic screening - in individuals for cancer prediction like breast and colon.  

 
A. Prenatal Screening

Different strategies are being devised to screen populations of pregnant mothers to help identify potential risks of a genetically abnormal fetus, targeting them for invasive diagnostic procedures if needed. These procedures include First and Second trimester maternal serum screening tests like (Double/Triple/Quadruple).

 

B. Maternal serum screening

First Trimester Screening (Double marker) – calculates the risk for Trisomy 18 and Trisomy 21 between 11 -14 weeks of gestation. It is based on biochemical analysis, Nuchal translucency (NT) measurement on USG and the maternal age of the patient. In the Second Trimester Screening (Quadruple marker) – calculates the risk for Trisomy 18, Trisomy 21 and open neural tube defect (NTD) by measuring MSAFP, uE3, Papp-A and Inhibin.
 

C. Ultrasound Screening

For fetal well being and detection of fetal anomalies including congenital heart disease. The ultrasound markers of chromosomal disease or other anomalies need follow up by invasive procedure for identifying the cause. 
 

D. Neonatal Screening

 
Effective neonatal screening helps in identifying metabolic disorders which needs further confirmation. If diagnosed earlier, management can improve the quality of life. The basic disorders that are screened are congenital hypothyroidism, congenital adrenal hyperplasia (CAH), phenylketonurea (PKU), galactosemia, biotidinase deficiency, maple syrup urine disease (MSUD), G6PD deficiency, cystic fibrosis and many more. Done by a drop of blood by heel puncture on special filter paper (spot test) or 1ml heparinised blood in a sterile test tube at 3 to 5 days of life.
 
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Genetic Screening
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Genetic Screening
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Stem Cell Cytogenetics

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Paediatric Cytogenetics
Metabolic Studies
Adult Genetic Disorders
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