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A nuchal translucency NT scan screens your baby for these abnormalities. This test is typically scheduled between weeks 11 and 13 of pregnancy. An NT scan is a common screening test that occurs during the first trimester of pregnancy. But too much clear space can indicate Down syndrome, or might show another chromosome abnormality like Patau syndrome or Edwards syndrome.

Our body cells have many parts, including a nucleus. The nucleus holds our genetic material. In most cases, the nucleus has 23 pairs of chromosomes, which are equally inherited from both parents. Individuals born with Down syndrome have an extra copy of chromosome This condition affects 1 in every babies born in the United States.

Patau syndrome and Edwards syndrome are rare and often fatal chromosome abnormalities. Unfortunately, most babies born with these abnormalities die within the first year of life. This test can also include blood work to measure your levels of plasma protein and human chorionic gonadotropin HCG , a maternal hormone. Abnormal levels of either may indicate a chromosome problem. During the screening, your doctor or a technician will take an abdominal ultrasound.

You could alternatively have a transvaginal test, where an ultrasound probe is inserted through your vagina. An ultrasound uses high frequency sound waves to create an image from inside your body. They can then enter your age or date of birth in a computer program to calculate the risk of your baby having an abnormality. An NT scan cannot diagnose Down syndrome or any other chromosome abnormality. The test only predicts the risk.

Talk to your doctor about available blood tests. As with any prediction, the accuracy rate varies. If you combine an NT scan with blood testing, the screening is about 85 percent accurate for predicting the risk of Down syndrome. No special preparation is required for an NT scan. If there are too much of clear tissue then it indicates the the baby may have down syndrome, edwards syndrome, trisomy 13 or other chromosomal abnormalities.

The baby may also develop other medical conditions such as low muscle tone, abnormal height, etc. The NT scan is usually done in the first trimester of pregnancy. Normally the NT Scan do not require any special preparation. You can have your normal diet and carry on regular activities prior to the scan. Generally the process involves two steps. Then the blood test will be followed by a special ultrasound will be used to examine the nasal bone and the fluid present at the back neck of the baby.

You will be asked to lie down on a table exposing your stomach. You'll get your results in the form of a ratio that expresses your baby's chances of having a chromosomal defect. For example, a risk of 1 in means that for every women with this result, one baby will have Down syndrome and 99 will not. A risk of 1 in 1, means that for every 1, women with this result, one baby will have it and 1, will not. The higher the second number, the lower the risk. You may also be told that your results are "normal" or "abnormal" for a particular condition, depending on whether the ratio is below or above a specified cutoff.

For example, some tests use a cutoff of 1 in So a result of 1 in 1, would be considered normal because the risk that there's a problem is lower than 1 in A ratio of 1 in would be considered abnormal because that risk is higher than 1 in Remember that a normal screening result screen negative isn't a guarantee that your baby has normal chromosomes, but it does suggest that a problem is unlikely.

Likewise, an abnormal screening result screen positive doesn't mean that your baby has a chromosomal problem — just that your baby is more likely to have one. Most screen-positive babies turn out not to have a problem: Only about a third of babies with an increased nuchal translucency measurement turn out to have chromosomal defects.

The NT scan alone will detect about 70 to 80 percent of babies with DS depending on which study you look at. The detection rate for the NT scan plus a first-trimester blood test ranges from 79 to 90 percent. Most tests will include both the NT scan and the blood test. This does not mean that a screen-positive baby has a 79 to 90 percent chance of having DS. It just means that 79 to 90 percent of babies who have DS will have screening results that are suspicious enough to recommend diagnostic testing.

And 5 to 21 percent of babies who have DS will be determined to be at normal risk — that is, the results will be misleading. Screening tests aren't perfect. They don't detect all cases of DS, so they may identify your baby as being at low risk when they really do have DS. In other words, if you're carrying a baby with DS, there's a 79 to 90 percent chance that the combined screening will detect the abnormality and give you what's called a screen-positive result indicating that further testing is recommended.

But it also means there's a 5 to 21 percent chance that the tests will miss the DS and give you a screen-negative result. This is called a false negative result, and it might lead you to decide against diagnostic testing that would have revealed a problem. These tests also have a 5 percent false-positive rate. A false-positive result is one that suggests that your baby is at increased risk for DS or another condition when, in fact, there's no problem.

With the help of your practitioner or a genetic counselor , you'll want to decide whether the results indicate a high enough risk that you want to have CVS or amniocentesis to get a definitive diagnosis. In making your decision, you'll need to weigh your need to know about your baby's condition against the small chance that diagnostic testing could cause a miscarriage.

If you decide not to have diagnostic testing, you can get more information about your baby's health and development by following up with NIPT a blood test that's available to all pregnant women beginning at 10 weeks of pregnancy , the quad screen a blood test in the second trimester , and a detailed ultrasound at 18 to 20 weeks.

This ultrasound can detect "soft markers" of chromosome disorders, such as short limbs, a bright dot in the heart, a bright bowel, and certain problems in the kidneys. It can also look for anatomical defects, such as spina bifida. BabyCenter's editorial team is committed to providing the most helpful and trustworthy pregnancy and parenting information in the world. When creating and updating content, we rely on credible sources: respected health organizations, professional groups of doctors and other experts, and published studies in peer-reviewed journals.



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