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Multiple marker tests are prenatal tests recommended to a pregnant woman for having a good and healthy pregnancy. The main role of the multiple marker tests is to successfully detect chromosomal abnormalities or defect present in the fetus. It is also known as a triple marker test, and quad screen test.
A multiple marker test is a blood test that measures three or four important components to find out whether the baby is at any risk for certain possible birth defects. The pregnancy of a woman produces certain components in her blood that contains information related to the baby. It is also known as Triple Marker - Second Trimester Blood. The markers measured by the test are also known by complex names such as alpha-fetoprotein (AFP). Alpha-fetoprotein is a protein produced by the baby’s liver. Also, the two hormones produced by the placenta are known as Human Chorionic Gonadotropin (HCG), and Unconjugated Estriol (uE3).
When multiple marker tests were introduced in the early 1980s then it used to measure only AFP levels which were simply known as the AFP test. Since then, the researchers have found that the combining of AFP levels reading with HCG and uE3 data work more accurately. This combination successfully assesses the risk of having a baby with any abnormalities, or Down syndrome caused by the presence of an extra copy of one chromosome in the patient. Another multiple marker test is known as 'quad screen' that measures the first three components along with the fourth component i.e. inhibin A. Adding inhibin A into the combination appears to make the test even more accurate at disclosing pregnancies at risk of Down syndrome. Most of the advanced and well- equipped labs situated across different parts of the world measure inhibin – A nowadays. (1)The result of the multiple marker test can be combined with first-trimester screening tests to give more accurate results to the patients advised to get the respective test done. Multiple marker test is more effective as compared to any other medical test. A medical expert can discuss the diagnosis with the couple as soon as he/she finds a problem. Any pregnant woman or a couple can get information related to the medical tests through this article. The article contains useful and related information linked with the prenatal tests or multiple marker tests.
In this article you will get to know about the following aspects of the Multiple Marker Test:
- What is a prenatal test?
- What are the types of a prenatal test?
- Why is the Multiple Marker Test Performed?
- Who should go for the Multiple Marker Test?
- What does the Multiple Marker test do?
- What does the result of Multiple Marker Test states?
- What are the reasons for further Multiple Marker testing?
- What if the MMS screening test shows an increased risk?
- What is the importance of Multiple Marker Test?
Prenatal tests are the most common medical tests a pregnant woman is recommended to undergo during pregnancy. This test helps a health care provider to find out the present status of the fetus and to be a mother. A woman is suggested to undergo several important prenatal tests during pregnancy. These medical tests are important to be performed during pregnancy. The screening or multiple marker tests help in detecting any kind of defect or abnormalities in the baby. Prenatal test help in checking the below-mentioned points associated with the fetus during pregnancy:
- Birth defects: These are the health conditions that are present in the baby at the time of birth. This defect changes the shape or function of one or more body parts of the fetus. Birth defects can cause problems in the overall health of the baby which might include the functioning of the body.
- Genetic and chromosomal conditions: These conditions are caused by changes in genes and chromosomes in the baby. A gene is a part of body cells that stores instructions so that the body can grow and function properly as per the requirement. A chromosome is the structure of cells that holds genes. Various genetic conditions include cystic fibrosis, sickle cell disease, and heart defects. One of the common chromosomal conditions is Down syndrome. Sometimes genetic and chromosomal conditions are passed from the parent to child. However, most of the times it happens on its own.
If in case certain health conditions run in the family of a couple, then it is recommended to consult their healthcare provider or genetic specialist immediately for an expert opinion. (2)
Prenatal testing includes first-trimester screening tests in which the medical expert will offer a blood test and an ultrasound. These two important tests are performed to measure the size of the clear space in the tissue at the back of a baby's neck effectively. There are two main types of prenatal testing which are mentioned below:
- Screening tests: Prenatal screening tests can identify whether the baby is more or less likely to have certain possible birth defects. Prenatal screening focuses on detecting certain genetic problems among a large population with affordable and noninvasive methods. These screening tests also include blood tests which a specific type of ultrasound and prenatal cell-free DNA screening. Prenatal screening tests are generally offered during the first or second trimester of pregnancy. The screening tests cannot make an ultimate diagnosis. The most common screening procedures include routine ultrasounds, blood tests, and blood pressure measurement. If the results of these screening tests indicate an increased risk for a genetic disorder, then the concerned health care provider will discuss certain options for a diagnostic test to confirm the diagnosis of the respective condition.
- Diagnostic tests: If a screening test indicates any possible problem, then the baby of the pregnant woman is at a high risk of having genetic disorders. After knowing about the defect the couple may consider to undergo an invasive prenatal diagnostic test. This is because it is the only way to be sure of the diagnosis of the medical condition in focus. In case, the result of the screening tests indicates chorionic villus sampling and amniocentesis then it may have a slight risk of miscarriage. (3)
There are three purposes of undergoing prenatal diagnosis:
- To enable timely medical or surgical treatment of a condition before or after the birth of the baby
- To give the couple a chance to abort a fetus having diagnosed condition
- To give a couple a chance to prepare psychologically, socially, financially, and medically for having a baby with a health problem or disability
The multiple marker tests are performed between weeks 15 and 20 of a woman's pregnancies. This test helps in screening any neural tube defects present in the baby growing in the womb of the pregnant woman. Neural tube defects include spina bifida or any chromosomal disorders such as 'Down syndrome' and 'Trisomy 18'. Depending on the number of aspects efficiently measured, the test also is called:
- The test is also known as "triple screen" or "triple marker". This is because it looks at the levels of a protein, Alpha-Fetoprotein (AFP), and two pregnancy hormones, estriol and Human Chorionic Gonadotropin (HCG).
- The test is also known as "quadruple screen" ("quad screen") or "quadruple marker" ("quad marker"). It is known as 'quadruple screening' because the test helps in measuring a combination of four components.
This medical screening calculates a woman's individual risk based on the levels of these four basic components. The result of this screening is also based on age, weight, and race of a pregnant woman. It also depends whether the woman has diabetes, which requires insulin treatment or a number of the fetus she is carrying in her pregnancy. The accuracy of the multiple marker test increases with the greater number of markers used in this medical test. The increased number of markers also helps in identifying the possibility of having a problem efficiently. In some cases, the doctor will combine the results of the multiple marker tests along with the first-trimester screen. This will help the doctor in getting a better idea of a baby’s risk for Down syndrome and neural tube defects. (4)
A multiple marker test or triple screen test is generally offered to all pregnant women, regardless of whether their pregnancy is considered at low or high risk. However, the choice of undergoing the test depends on the couple.
- A pregnant woman of age 35 years or older should consider taking this screen test.
- A woman should consider taking the screen test if she has any family history of birth defects, or have had a pregnancy with a birth defect.
- This test is also advisable to a woman having insulin-dependent diabetes or has used any kind of medications or drugs that can cause any harm during pregnancy.
- Multiple marker tests can be recommended to a woman who is diagnosed with a viral infection or is exposed to high levels of radiation during pregnancy.
A multiple marker test is the most accurate test when performed between the 16th and 18th weeks of the pregnancy. This medical test can be performed in the time frame of week 15 to week 20 which will provide the desired results in pregnancy. In some rare cases, experts also perform the test, up to week 22 of pregnancy. (5)
Since, multiple marker tests is a screening tool, not a diagnostic tool, this test doesn’t confirm whether the baby will or will not have a birth defect. But the test can give patients or the couple more details related to the chance of carrying a child with certain abnormalities, including the following:
- Down syndrome: This syndrome is caused by an extra copy of chromosome 21 in the respective patient. This condition affects the ratio of one in 733 babies. Down syndrome is characterized by mental retardation and distinct facial features. This distinct facial feature includes slanted eyes, the low-set position of ears, and a flat face. Children who have this disorder often have heart defects as well as other health problems.
- Trisomy 18: This syndrome is caused by an extra copy of chromosome 18. This condition affects the ratio of one in 7,000 babies. Trisomy 18 causes severe mental retardation and numerous physical defects to the fetus within the first few years of birth of the baby.
- Neural tube defects: The neural tube is the embryonic structure that develops into the brain and spinal cord. The brain and the spinal cord of the babies don’t grow properly in case the baby is having neural tube defects. This can also result in spina bifida which is known as open spine. This can lead to neurological problems, leg paralysis, bladder, and bowel impairment. A neural tube disorder which is also known as anencephaly i.e. a fatal condition characterized by an underdeveloped brain and skull. This kind of defect occurs in about 1 in 1,000 pregnancies.
- Abdominal defects: This test results can signal a potential risk of having a rare defect of the abdominal wall, kidney, or bowel. (6)
If in case a couple has undergone the multiple marker tests and has received abnormal results then there is no need to worry for the patient. Any minor change in the reports doesn’t mean that the child has a birth defect. Rather, this change or an abnormal screen indicates that the fetus should be evaluated further. If in case the results show high levels of AFP, then it is pointing to a possible risk of spina bifida or another neural tube defect. The doctor will order a detailed ultrasound to examine the fetus, including the fetal skull and spine. In addition, an ultrasound can confirm the age of the child or whether a woman is carrying multiples. Rather than this, the doctor may also refer to amniocentesis, which is the withdrawal of amniotic fluid from the uterus of the pregnant woman. (7)
If in case the multiple marker screen results in low levels of AFP and estriol with high levels of HCG and inhibin-A. This indicates that the baby has an increased risk of having Down syndrome. The next step is often an ultrasound that is performed to confirm the due date of the baby. It is also performed to look for any obvious abnormalities. However, the ultrasound is not a very good test for detecting Down syndrome. This is why pregnant women are offered amniocentesis so that their chromosome testing can be done efficiently. This test is performed on the fetal cells that are found in the amniotic fluid. One must remember that the multiple marker tests are just a screen test. This test can identify many fetuses having any kind of risk for certain birth defects. A positive screen doesn’t usually mean that there’s a birth defect. But it mostly indicates that there’s a need for more evaluation. (8)
The triple screen is a routine screening test. This test is not an invasive procedure and poses no risks to the pregnant woman or baby. If the triple screen result is abnormal then it requires additional testing. The reasons to pursue further testing depend on the medical case of the couple. If in case a doctor recommends a couple for undergoing further tests to confirm a diagnosis then it may provide you with certain opportunities such as:
- A doctor may recommend a couple to pursue potential interventions that may exist i.e. fetal surgery for spina bifida
- A couple can begin their planning for a child with special needs
- A couple can start addressing anticipated lifestyle changes
- A couple can identify support groups and resources
Rather than this, some individuals or couples may decide not to pursue testing or additional testing for multiple reasons such as:
- The couple is comfortable with the results no matter what the outcome is
- The couple can deny pursuing further tests because of their personal, moral, or religious reasons
- Some parents choose not to pursue any testing that may cause any risk of harming the development of the baby.
It is important for a couple to discuss all the risks and benefits of testing thoroughly with their healthcare provider. The healthcare provider will help the couple in evaluating the benefits from the results that could outweigh any risks the baby from the procedure.(9)
If MMS test results show an increased risk, then a couple will be counseled by the doctor. The first step of testing is to have an ultrasound examination. In some cases, the blood test results are higher or lower than the expectations. This is because the pregnancy has not reached as far when last menstrual periods calculations are considered. In such cases, the expected due date of the delivery and the interpretation of the test may be changed after the ultrasoundexamination. If the risk of having Down syndrome is still high then a couple may decide to have additional screening with cell-free DNA. (10)
The importance of the Multiple Marker Test are:
- Estriol: It is an estrogen hormone that comes from the placenta and the fetus. If in case the level of estriol is low then it may indicate that the baby may have Down’s syndrome. Down syndrome is the delay of growth, development, and intelligence due to the disorder of chromosome 21. This will be more prominent if the level of alpha-fetoprotein is low and the level of human chorionic gonadotropin is high.
- Human chorionic gonadotropin (HCG): This is a type of hormone which is produced by the placenta. HCG levels play an important role in pregnancy. If human chorionic gonadotropin levels are declined then it may indicate certain problems with pregnancy such as miscarriage or ectopic pregnancy. If the human chorionic gonadotropin levels are increased then it may indicate a molar pregnancy or multiple pregnancies.
- Alpha-fetoprotein (AFP):This is a protein developed by the fetus. If the level of alpha-fetoprotein is raised then it may be due to potential defects in the fetus such as neural tube defects or failure of the fetus’s abdomen to close. Hence, multiple marker tests help a doctor in detecting whether the baby is suffering from any genetic disorders such as Down’s syndrome or Edward syndrome or not. Edward’s syndrome is a condition that leads to various severe developmental delays caused due to chromosome 18 abnormality. This is a very favorable method to detect any genetic defects in the baby before its birth. This test provides a probable ratio of the unborn baby having a chromosomal defect. If in case, the ratio of having a chromosomal abnormality is high then the couple should go for further tests such as amniocentesis. (11)
Pregnant women are advised by medical experts to undergo prenatal tests for having a healthy pregnancy and the ultimate birth of the baby. Multiple marker tests are one of the most suggested prenatal tests to a pregnant woman. It is a beneficial test performed to detect any kind of defect present in the fetus. Prenatal screening determines a high chance of having a baby with Down syndrome, Trisomy 18, or an open neural tube defect. Prenatal screening can also determine the chance of having any other genetic conditions and congenital anomalies in a baby during pregnancy. A pregnant woman can also get more information related to pregnancy and delivery by visiting www.elawoman.com. You can also take the assistance of best obstetricians by contacting us on +918929020600.
SOURCES AND REFERENCES:
- ^ Multiple Marker Test | Health Day Consumer.healthday.com, 25 June 2019
- ^ What Are Prenatal Tests and Why Are They Important | March of Dimes Marchofdimes.org, 25 June 2019
- ^ Pregnancy Week by Week | Mayo Clinic Mayoclinic.org, 25 June 2019
- ^ Prenatal Test: Multiple Marker Test | KidsHealth Kidshealth.org, 25 June 2019
- ^ What Is a Multiple Marker Test | Health Day Consumer.healthday.com, 25 June 2019
- ^ What Is a Multiple Marker Screening and What Can It Tell Me | Parents Parents.com, 25 June 2019
- ^ About the Multiple Marker Test | Rady Childrens Rchsd.org, 25 June 2019
- ^ What Is the Multiple Marker Test | Akron Children's Hospital Inside.akronchildrens.org, 25 June 2019
- ^ Triple Screen Test | American Pregnancy Americanpregnancy.org, 25 June 2019
- ^ Multiple Marker Screening Test (MMS) | Penn Medicine Pennmedicine.org, 25 June 2019
- ^ What Does a Triple Marker Screen Test Do | Healthline Healthline.com, 25 June 2019
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