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Healthy Baby Service

Determining Your Baby’s Risk of Birth Defects
Maternal Serum Multiple Marker Screen
What is maternal serum screening?

The maternal serum multiple marker test is a prenatal screening test using blood from the mother that can help identify women who may be carrying a baby with certain types of birth defects (such as neural tube defects, Down syndrome, and trisomy 18 syndrome).

This test should be offered to all pregnant women regardless of age. Maternal serum screening is available to any pregnant woman between 15 and 21 weeks of pregnancy (counting from the first day of the last menstrual period). Women 35 years of age or older should be offered other diagnostic testing such as amniocentesis.

This blood test provides information about your developing baby. The maternal serum multiple marker test measures at least three markers found in the mother’s blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol. These substances are made by the developing baby and the placenta. The levels of these markers can be analyzed through a simple blood sample. Certain birth defects can sometimes be detected when the levels of these markers are different than expected. Some laboratories will measure additional chemicals to achieve a higher detection rate for these conditions.

What does an abnormal test mean?

Maternal serum multiple marker screening is not a diagnostic test, but a screening test. A positive or abnormal result indicates the need for additional testing, such as ultrasound or amniocentesis. An abnormal test does not necessarily mean there is a definite health problem with the pregnancy. Genetic counseling to discuss this test is recommended.

Elevations in AFP may
  • Identify a high percentage of neural tube defects including anencephaly.
  • Detect a miscalculated due date.
  • Identify twins or a pregnancy with multiples.
  • Detect an abnormal opening in the abdominal wall.
  • Predict risk for preterm delivery.
  • Determine a low birth weight.
  • Represent a normal variation.
Neural Tube Defects

There are two main types of neural tube defects: Anencephaly occurs when development of the skull is incomplete. Babies born with anencephaly may be stillborn or die soon after birth. Spina bifida is an incomplete closure of the spine. Babies born with spina bifida may have medical problems involving weakness or paralysis of the legs, problems with bowel and bladder control, chronic infection and, rarely, mental retardation.

It is also known that some pregnancies that result in a baby with Down syndrome can be identified when a particular pattern or combination is noticed in the levels of all of the screened substances.

Down Syndrome Down syndrome is a genetic condition that results in mental retardation, medical problems such as heart conditions, and characteristic facial features. Down syndrome is also known as trisomy 21 which means there is an extra chromosome 21. It occurs in approximately 1 in 700 births and can occur in infants born to women of any age or race, even if there is no family history of Down syndrome. However, the risk for Down syndrome does increase with maternal age.

Another chromosomal disorder known as trisomy 18 may be identified with the screening when the AFP levels are lower than expected.

Trisomy 18 Syndrome

Trisomy 18 syndrome is a genetic condition in which the baby has an extra chromosome 18; it affects 1 out of 8,000 births. The syndrome is characterized by specific abnormal features and organ malformations. Few infants with this syndrome survive beyond the first year of life.

How accurate are these tests?

The maternal serum multiple marker test is able to identify
  • 80 percent to 85 percent of developing babies with neural tube defects.
  • 60 percent to 70 percent of developing babies with Down syndrome when the mothers are younger than 35 years of age.
  • 80 percent to 90 percent of developing babies with Down syndrome when the mothers are older than 35 years of age.
  • 60 percent to 80 percent of developing babies with trisomy 18 syndrome.
  • 75 percent of developing babies with abdominal wall problems.
Important Facts

Maternal serum multiple marker test is sometimes called triple test, AFP plus, enhanced AFP, AFP3 test or triple screen prenatal risk profile (PRP). More recently, blood is being tested for four markers and the test may be called the quad screen or AFP4, etc.
  • The test is a simple blood test on the mother’s blood and poses no threat to the mother or to her baby.
  • This is a voluntary test. If you have any questions about the test, you should discuss them with your physician.
  • Although the test can detect some common health conditions, a normal result does not guarantee a healthy baby.
  • An abnormal test does NOT always mean there is a problem with the baby. It simply means that other tests may be suggested.
  • Abnormal results are usually followed by other diagnostic tests, including high resolution ultrasound or amniocentesis.
  • The results of this test help to give you and your physician the knowledge to provide the best care and preparation that you need for the birth of your baby.
When a baby is born, he or she is entitled to a range of routine health checks and tests in the first six weeks. These include:
  • A physical examination
  • A hearing test
  • A blood test (taken from the baby's heel)
Most babies are healthy and won't have any of the conditions or problems that the screening tests are looking for. But for those babies that do have a health problem, the benefits of screening can be enormous. Early treatment can improve the baby's health and prevent severe disability or even death.

It's a good idea for you to consent to your baby having the checks and tests, but you can decline if you wish.

The checks and tests are quick and won't harm your baby.

Physical examination

Every baby has a head-to-toe physical examination soon after birth to identify babies likely to have particular conditions that may need further monitoring, investigation or treatment.

The examination is carried out within 72 hours of birth and then again at six to eight weeks of age, as some conditions can develop later.

As well as the top-to-toe physical check, there is specific examination of the baby's:
  • Eyes : This is not done to check your baby's vision, but to pick up conditions such as congenital cataracts
  • Heart :a wide range of abnormalities may be detected, ranging from minor defects that may get better by themselves, to more serious conditions that need further investigation and treatment including heart surgery
  • Hips : To check their position and stability
  • Testicles, in boys : To check they're in the right place
Read more about what's involved in NHS newborn physical examinations.

The hearing screening test

A hearing screening test is performed within a few weeks of your baby being born, either while you're both still in hospital, by a health visitor in your home, or at your local GP surgery or health clinic.

Two hearing screening tests may be used:
  • The Automated Otoacoustic Emission (AOAE) screening test and/or
  • The Automated Auditory Brainstem Response (AABR) test
One to two babies in every thousand are born each year with hearing loss in one or both ears. This hearing screening test enables those babies with hearing loss to be identified early. Early identification is important for the development of the child and means that parents can receive support and information as early as possible.

The hearing test is quick and painless. The AOAE hearing screening test involves putting a small, soft-tipped earpiece in the outer part of the baby's ear. Sounds are then sent through the earpiece and into the baby's ear. The equipment measures how the baby's ears have responded.

The AABR hearing screening test involves placing three small sensors on the baby's head. Then, headphones are put over the baby's ears and a series of clicking sounds are played. The AABR machine measures how well sounds travel along the baby's hearing nerve pathways from the ear to the brainstem.

You should be given the results at the time of the hearing screening test.

Blood spot (heel prick) test When a baby is about five days old, a midwife will collect a sample of blood by pricking the baby’s heel using a special device and squeezing out a few drops of blood on to a card. The heel prick may be uncomfortable and the baby may cry, but it's all over very quickly.

The card is sent off for analysis and parents receive the results of the blood spot test within a couple of months.

The blood spot screening test helps to identify a range of health conditions, including:
  • Sickle cell disease : An inherited blood disorder. Treating babies will help prevent serious illness.
  • >Cystic fibrosis : A life-limiting inherited disorder that affects the internal organs, especially the lungs and digestive system.
  • Phenylketonuria (PKU): A very rare condition that can cause mental disability (but is treatable once diagnosed).
  • Congenital hypothyroidism : another rare condition that can lead to impaired growth and mental development. Treated babies can develop normally.
  • Medium-chain acyl Co-A dehydrogenase deficiency (MCADD): A rare, but potentially life-threatening inherited disorder, where fat cannot be broken down by the body as well as usual. Babies with MCADD develop normally, but recognising the condition early enables parents to make sure they eat regularly and avoid serious illness.
Novus provides you New Born Screen test by a NABL accredited laboratory, and free consultation of specialist.