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What Is This Quad All About?

We spend a good amount of time explaining tests and test results to patients during routine office visits.  One particular test often leads patients’ to anxiety and misunderstanding: The Quad Screen.


The Quad Screen is a test from the mothers blood, drawn between 15 and 20 weeks of pregnancy.  The goal of the test is to evaluate the risk (or chance) that the current pregnancy is affected by Down’s Syndrome, or, more rarely, other chromosome abnormalities.

First off, Down’s Syndrome is a condition caused by an extra 21st chromosome.  Down’s Syndrome can show a range of severities with different medical conditions, the most common are mental retardation, heart problems, poor growth, the particular look of a Down’s Syndrome person, and the development of leukemias.  Down’s Syndrome occurs in about 1 in 800-1000 livebirths, and increases in frequency with increasing maternal age.  For example: At maternal age 20 to 24, the probability is one in 1562; at age 35 to 39 the probability is one in 214, and above age 45 the probability is one in 19.


Unfortunately, currently there is no commercially available way to test maternal blood to know if her baby has Down’s Syndrome, at least not yet.  In comes the Quad Screen.  When you have a Quad Screen done the result will be a number such as: 1 in 10,000, 1 in 1000, or 1 in 100.  If that test is reported as a chance equal or greater to 1 in 270, it is reported as increased risk for Down’s Syndrome.


When we have patients that have an elevated risk based on screening we offer a definitive test: amniocentesis.  Amniocentesis involves taking some fluid from around the baby using an ultrasound and a needle.  This test can then directly determine whether the child is affected.


The goal of all this complicated testing is to provide upfront information to parents.  Having a child with Down’s Syndrome will bring unique challenges into a family, and many people may want to become educated about the disorder and plan for the care of their child.  What I like to remind people is that a test of 1 in 270 chance of having a baby affected is still a 99.9% chance the baby is normal.  An amniocentesis can cofirm that.

Dr. Mike Mahoney

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Dr. Mike Mahoney


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