Prenatal Genetic Testing Follow along with Sue’s prenatal visit

1	Sue talks with her doctor about planning a pregnancy
	Sue is planning her first pregnancy and wants to make sure she does everything she can to increase her chances of having a healthy baby. One thing Sue can do is talk to her physician before becoming pregnant. Pre-pregnancy can be a great time to discuss the impact of diet, exercise, smoking habits, and other lifestyle factors that can affect a pregnancy and the health of her baby. Many physician's prescribe prenatal vitamins for their patients even before they are pregnant, and this can also be a good time to discuss genetic screening tests that may be appropriate based on the patient's risk factors, such as family history and ethnic background.
			Watch a video to see and hear Sue's conversation with her physician, and learn about carrier screening for Cystic Fibrosis.
	Visit our Patient Health Library to read more about carrier screening for Cystic Fibrosis.
2	Sue visits a nearby Patient Service Center to have her blood drawn
	To run a test, some of the patient's blood, urine or cells needs to be collected, so it can be analyzed at the laboratory. The blood, urine or cells collected is called the "sample." Sometimes physicians collect a patient's sample in their office, but blood and urine samples, are often collected at one of our nearly 2,000 Patient Service Centers, located throughout the U.S. and in select international locations. Patients can find a nearby Patient Service Center by using our online locator. The locator provides the phone number, hours of operation, address, and directions, including an interactive map. Alternatively, patients can use our toll-free locator, by calling 1-800-377-8448. Once at the Patient Service Center, a healthcare professional called a "phlebotomist" draws the sample of Sue's blood. Our phlebotomists are friendly, skilled and focused on providing patients with prompt, courteous service. Almost 40 million patients visited our patient service centers last year, yet even during peak times, we still see most patients within 20 minutes or less.
			Watch a video to see Sue use our online locator and visit a nearby Patient Service Center.
3	Sue’s blood sample is sent to one of the Quest Diagnostics regional laboratories
	After Sue's blood sample has been collected at our Patient Service Center, a Quest Diagnostics courier picks it up and brings it to one of our laboratories.
			Watch a video to learn more about how samples are picked-up and delivered to our laboratories.
4	Sue's sample is analyzed at the regional Quest Diagnostics laboratory
	Once Sue's sample is delivered to the laboratory, information about her sample is entered into our computers, such as the date the sample was collected, and the type of test her physician has ordered. Then her sample is prepared for testing, and is analyzed. The science and technology used to analyze a patient's sample varies based on the type of test being done. The Cystic Fibrosis screening test Sue is having done, is a genetic test. Genes, alone or in combination, determine what features (genetic traits) a person inherits from his or her parents, such as blood type, hair color, eye color, and other characteristics, including risks of developing certain diseases. A "carrier" has one normal CFTR gene and one with a CF mutation. An 'affected' individual has 2 CF mutations, one in each CFTR gene. If both parents are found to be carriers for a CF mutation, they are at risk to have a child with Cystic Fibrosis disease. A person who is a "carrier" of an inherited (genetic) disease may not have the disease himself or herself, but can pass the disease on to his or her children. The disease cystic fibrosis is caused by harmful changes (mutations) in the "CFTR gene." There are 25 mutations that are most commonly found in individuals with Cystic Fibrosis disease. A parent who has those mutations can pass the gene to their children. DNA (DeoxyriboNucleic Acid) is first extracted from the patient's blood sample. The patient's DNA is analyzed to determine if the individual carries any of these 25 mutations. Some other frequently ordered lab tests are processed as follows:
	•	Blood chemistry tests – The number and types of platelets and white and red blood cells in the patient's blood are counted using a machine called an analyzer. This test determines if the amount of platelets and white and red blood cells is higher or lower than what would normally be seen in a healthy individual. Depending on the test, all parts of the blood (called "whole blood") or just one portion of the blood (serum or plasma) is analyzed. A Complete Blood Count, or CBC is one test that is performed using whole blood. For other tests, where just a portion of the blood will be analyzed, the blood is spun in a centrifuge, to separate that portion from the other blood components before being analyzed.
	•	Cultures – Cells to see if bacteria is present cells are placed in a petri dish sample is kept under conditions that allow bacteria and other organisms to grow. If no organisms grow, the test is negative. If organisms grow in numbers large enough to indicate an infection, the culture is positive. A microscope or chemical tests are used to identify the type of organisms causing the infection.
			Watch a video to see how samples are analyzed inside our laboratories.
5	The test result is sent to Sue’s physician, and he calls Sue to discuss.
	Once the test has been processed and the result is determined, the report is sent to Sue's doctor. Her doctor will interpret the laboratory test result (that is, determine the meaning) in conjunction with other relevant information about her medical history, physical examination, and other test results, and provide her with medical advice, diagnosis or treatment. Visit our patient FAQ page to learn more about how test results are delivered.
			Watch Sue's doctor receive the test report, and call Sue with the results.

Note: Video produced in 2005. Information shown reflects company statistics at that time.

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