What is Prenatal Screening?

• A prenatal screening is a test available for a pregnant woman as part of their prenatal care.

• Prenatal screening can tell you if your baby is developing in a normal way or if it could be at risk of some rare disorders like Down syndrome, trisomy 18, or an open neural tube defect.

Why are prenatal screening tests important?

• Prenatal ccreening in pregnancies identifies certain fetal defects that will cause the child, if it survives to term, to be born disabled.

• The disorders most commonly associated with screening programs are trisomies or chromosomal problems such as Down syndrome, and open neural tube defects (ONTD's).

• These disorders are linked with mild to moderate mental retardation, heart problems, muscle weakness, and other birth defects. Some pregnancies usually result in miscarriage, stillbirth, or infant loss.

How is Prenatal screening tests done?

• A small amount of certain hormones will be measured in the blood. These hormones are made by fetus (developing baby) and the placenta during pregnancy and are in every woman's blood.

• When a baby has Down syndrome, trisomy 18 or an open neural tube defects, the amount of these hormones might be different from usual.

• Prenatal screening results can tell you the chance of your baby having one of these problems.

How can I get the prenatal tests done?

There are two screening options available depending on the gestational age of the baby and the doctor will order them accordingly.

1. Get a blood test between 10 weeks and 13 weeks 6 days of pregnancy. This is called a First Trimester test.

2. Get a second blood test between 15 and 20 weeks of pregnancy. This is called a Second Trimester test.

• Many women choose to have a first trimester screening test to find out early in their pregnancy if there could be a problem.

• Second trimester screening is valuable for women who miss or are too late for the first trimester screening test.

• Prenatal screening is the most accurate non-invasive screening available in pregnancy.

What does a 'screen negative' result mean?

• A result is called screen negative when a pregnant woman's blood has the usual amount of these hormones. This means the chance of her baby having Down's syndrome, trisomy 18 or an open neural tube defect is low. Most times no further testing is needed.

Remember, although most women with a screen negative result will have normal baby, prenatal screening can miss a case of Downs syndrome, trisomy 18 or an open neural tube defect.

What does a screen positive result mean?

• A screen positive result mean the chance is higher than usual that your baby might have Down's syndrome, trisomy 18 or an open neural tube defect

• Remember, a screen positive result from a prenatal screening does not confirm the chance of your baby having Down syndrome, trisomy 18 or an open neural tube defect.

What if my results show increased risk?

• An increased risk does not mean your baby has a problem. It means you should consider additional evaluation and/or testing.

If your results show an increased risk, your doctor will explain your results and options for further testing. Your options may include Chorionic Villus Sampling or Amniocentesis.

What is newborn screening?

Newborn screening is a simple blood test done to find out if a baby has a rare serious birth defect or hidden disorder. If a problem is detected early, they can be managed or treated (in most of the conditions) and therefore prevent death, disability or other severe consequences such as mental retardation.

The tests are performed when a baby is 48 – 72 hours old and is done by taking a few drops of blood from the baby's heel and spotted on a special filter paper card. After the blood is dried, the card is sent to Acquity Labs where several different tests are performed.

My new baby seems fine and healthy and we have no family history of genetic defects?

Are these tests still needed?

YES! Most babies with these medical conditions seem healthy at birth. It is only with time that the disorder affects the baby's health, growth and development, but by then the damage may be permanent.

Babies with defects or disorders are rarely suspected through family history and require the screening and diagnosis process to start treatment before your baby shows symptoms.

What disorders are tested for in Acquity Labs?

More than 50 genetic disorders are tested and they fall into one of the following groups:

Metabolic conditions, which affect how the body processes food.

Endocrine conditions, which affect the levels of important hormones

Hemoglobin conditions, which affect the blood and cause anemia, infections, and other health problems.

Pulmonary condition, which affects growth and the lungs.

Does every baby need newborn screening tests?

Yes! Every baby need these tests because a few babies who look healthy may have a rare birth defect or disorder and can become very sick in a short time. The screening tests check to see if a baby has any such hidden disorders.

If not found early, many of the conditions can cause serious and permanent health problems, severe developmental delay and even death.

The chance of having one of these disorders is small, Why is the test very important?

Though these disorders are rare, they are very SERIOUS.

For example, the most common disorders identified on newborn screening are congenital hypothyroidism. Symptoms of hypothyroidism are usually not evident in a baby until irreversible brain damage has occurred.

The newborn screening test helps your doctor catch a problem with your baby before it makes him or her sick.

How can I get information about the results of my baby's newborn screening tests?

Your baby's newborn screening results will be reported to you and to the doctor who is listed on your baby's information card.

The test reports include results of all routine testing or results of any optional screening your baby had.

In addition, if your baby's test results indicate positive or abnormal results your doctor will talk to you about the results and suggest what needs to be done next.

Does an abnormal or positive screen mean that my baby has a disorder?

Not always. Because this is a "screening test", it finds babies at increased risk for a disorder. When a child has a positive screen, the parents and the child's doctor are notified so further testing can be done to confirm if the child has a condition.

More testing and examination by a specialist are usually required to find out if the disorder is present.

What does it mean if the results were 'negative' or 'normal'?

This is good news. The test results indicate your baby is not at risk for any of the disorders screened. However, it is important to remember this is just a "screening" test.

While the testing offers the best chance of identifying these disorders early, if your baby shows any signs or symptoms of illness or developmental problems, make sure it gets baby checkups as soon as possible.

Because of the serious nature of the conditions, you must quickly and carefully follow the directions of your baby's doctor. If your baby needs to be retested, get it done right away.

What does it mean if the results are "inconclusive? "

There are many reasons that results would be reported as "inconclusive: "

The specimen was collected too early.

The specimen was damaged by heat or humidity.

The specimen was collected too soon after a blood transfusion. The specimen was collected while receiving intravenous feedings.

What does a "repeat screen" or retest mean?

A "repeat" test is testing on a new dried blood spot filter paper specimen. Sometimes, a baby needs to be tested again. This does not necessarily mean that your baby has a medical condition. Retesting may need to be done if:

• The blood sample was taken before your baby was 24 hours old.

• There was a problem with the way the blood sample was taken.

• The first test showed a possible medical condition.

Can these disorders be treated?

• Effective treatment is available for most of the disorders for which we screen.

• The treatment for each condition is different.

• Treatment may include a special diet, hormones, and/or medications.

What are the risks of not screening? Are there any alternatives to screening?

Affected babies who are not identified through screening will at some stage become sick and show symptoms of their illness.

While they may be offered treatment at that stage, their growth and development may already have been impaired.

Unfortunately, there are no alternatives to screening—it is the ONLY way to identify sick babies early.

Are the tests expensive?

• benefits justify the costs of screening.

• the costs of not diagnosing these conditions, both in terms of human suffering and in financial terms, are huge.

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