Ultrasound Down Syndrome with Early Detection

What is Ultrasound?
Ultrasound technology allows medical professionals to look inside a patient without resorting to surgery. A transmitter is used to send high frequency sound waves in the body; the waves bounce off the different tissues and organs and hence produce a unique pattern of echoes. A receiver attached, hears the returning echo pattern and it sends it to a computer translating the data into an image on a television screen. Ultrasound can differentiate subtle variations between soft and fluid-filled tissues and is very useful in providing diagnostic images of the abdomen.

Ultrazvuk abdomena is non-ionizing radiation hence it has no known negative effects. It is often used in conjunction with other imaging techniques. Ultrasound, x-ray, and magnetic resonance imaging (MRI) takes body images using diverse technologies and every technique is quite helpful in determining mass properties resulting in more complete diagnosis.

Ultrasounds and detecting Down Syndrome
Ultrasound tests can be done in the first trimester to check for early signs of Down's Syndrome, such as thicker than normal neck skin. You have an ultrasound scan and the radiographer or doctor measures the amount of fluid beneath the skin behind the baby's neck. This measurement can indicate the possibility of the baby having Down's syndrome.

In the early second trimester, an ultrasound test may be able to show another potentially problematic sign, the lack of a normal nasal bone.

Ultrasound is not a definitive test for a number of reasons. The mother will be moving slightly during the test, no matter how hard she tries to be still. Her breathing moves her uterus, if nothing else. In addition, of course, babies move around like mad as any pregnant lady who's tried to sleep through a kicking child can attest. Because ultrasound testing involves bouncing sound waves in order to get a clear picture, movement can give false results either way.

The combination of ultrasound and maternal blood testing increases the odds of early detection to 90% with only 5% erroneous positive results. False positives are maddening, stressful errors in the testing process, and can lead new parents to believe they have a child with Down's Syndrome when, in fact, they don't.

While testing procedures have improved greatly, keep this small chance in mind when looking at test results.

Use of ultrasound and maternal blood testing can help avoid the necessity of the more definitive tests. However, if screening up to this point has indicated a strong possibility of Down's Syndrome in your baby, you may want to go ahead and have the more definitive tests done to get a real, concrete answer.

A high resolution ultrasound scan which is an extremely detailed scan using a very expensive scanner could pick up spina bifida in a baby. In this case, ultrasound becomes a diagnostic test rather than a screening test.

Why need Pre-Natal Pregnant Test by using UltraSound?
An ultrasound is one of the most common prenatal tests, and it is usually performed at least once during the pregnancy. During the ultrasound the doctor will be able to look at your baby's development and check for any health problems or abnormalities. The sex of the baby can also be determined using ultrasound procedures.

Women who are over the age of 35 or who have genetic disorders in their family usually receive amniocentesis as part of their prenatal test routine. During this test, a small amount of the amniotic fluid is collected and analyzed. Any genetic abnormalities or diseases in the baby can be diagnosed through this prenatal test. If there is not enough amniotic fluid present to be collected safely for amniocentesis, or the woman wants test results very early in the pregnancy, than chorionic villus sampling can be used; during this test fetal blood is collected from the umbilical cord. Chorionic villus sampling can also detect addition problems in the fetus such as low oxygen levels or anemia.

Trained sonographers in a medical setting may be able to determine if a fetus is more likely to be born with Down syndrome by observing the thickness or folds of the neck. This is called nuchal translucency thickness.

Some hospitals are beginning to offer “Sequential Screening,” a two-stage test in the first trimester designed to test for Down syndrome, trisomy 18 and other chromosome disorders as well as neural tube defects such as spina bifida without the risk and invasiveness of amniocentesis or chorionic villus sampling (CVS). Participating hospitals may recommend this diagnostic ultrasound to pregnant women over age 35, or to any woman who would like to have the tests. A blood test for hormone levels in the 10th to 14th week is followed up by an ultrasound in which the amount of fluid at the back of the fetus’ neck is observed. The results of the two tests combined reveal “odds” that the fetus is affected with one of the conditions being tested for. A second blood test may be advised between the 15th and 22nd week, at which point the combined results are considered 90-percent accurate in detecting Down syndrome or trisomy 18.

What Would You Do If Your Doctor Said Your Fetus Had a 1 in 6 Chance of Being Born With Down Syndrome?
Since 1983, when doctors noticed that alpha-fetoprotein was usually low in the blood of women who carried a fetus affected with Down syndrome, the search has been on for a test, or combination of tests, that would diagnose the syndrome early in a pregnancy. Women and their partners use this testing so that they can prepare to raise a child who will have profound medical, cognitive, and behavioral challenges, or so that they can end the pregnancy. The best tests now detect up to 95 percent of Down syndrome by combining results from blood tests in the first and second trimesters with an ultrasound examination in the first trimester, and obstetricians across the developed world are screening more of their patients than ever before. None of these tests, however, provide a definitive yes or no answer -- although blood tests that do are in development and may be available as soon as June.

In much of Europe, this increase in screening has coincided with a decrease in the number of babies born with Down syndrome, because many women, armed with this new information, have chosen to terminate these pregnancies. However, many US women -- including Alaska Governor Sarah Palin, whose son with Down syndrome, Trig, was a constant presence on last year's campaign trail -- are finding out their fetuses have the syndrome and are continuing with the pregnancy

At their best, obstetricians provide their patients with information and counseling that empower them to make the right decision -- about testing, and about what to do with the results of these tests. As an obstetrician specializing in complex pregnancies, including those affected by Down syndrome, and try to be informative, supportive, and non-directive, but you can recognize that the options are confusing and the decisions momentous.

What Causes Down Syndrome?

Down's affection is authentic as a ache that comes about because of a abiogenetic aberancy that abnormally affects the brainy capabilities and concrete appearance of an afflicted person. Individuals with this action absolutely generally acquaintance capricious degrees of medical and concrete issues. Some bodies with the ache are able to auspiciously advance moderately approved lives while others charge assiduous medical care. It affects 1 in 800 newborns and is said to be added accepted with earlier mothers. The ache cannot be prevented, about it can be apparent in utero, afore the babyish is born. There is still abundant altercation in affiliation to the ramifications of abiogenetic testing for Down'ssyndrome. It has been empiric that an estimated 90-93% of pregnancies with a Down's babies were aborted already this was articular through assorted forms of abiogenetic testing methods.

The angle for accouchement with Down's affection has decidedly bigger in contempo years. The approved activity amount for an alone with Down's affection was 25 years old in the 1980's it has now risen to 49 years of age in present times. Bodies with the ache will usually be barren abnormally males who are alone partially abundant in acutely attenuate instances. Most accouchement with Down's affection will additionally acquaintance acutely bargain cerebral abilities. However, with bare medical intervention, ancestors abutment and abstruse training the adolescent with bottomward affection can apprentice to overcome, to some extent, his or her disabilities.

What Causes Down's Syndrome

The disease as mentioned before is caused by a genetic irregularity. A normal person will have 46 chromosomes, 23 of which will be inherited from either parent. In an individual with Down's syndrome he or she will have an overall number of 47 chromosomes or essentially 1 more chromosome than is expected. This chromosomal abnormality manifests because of an extra copy of the 21st chromosome. The effect of the extra copy will vary among affected people.





The condition cannot be prevented and is said to be a randomly occurring event. However women over the age of 35 are at an increased risk of conceiving a child with Down syndrome. The risk for different age groups are listed below:

• Women who are 25 years of age will typically have a 1in 1,250 chance of having a Down's baby.

• Women who are 30 years of age will normally have. 1 in 1000 chance of having a Down's baby.

• Women who are 35 years of age will normally have 1in 400 chance of having a Down's baby.

• Women who are 40 years of age will typically have 1 in 100 chance of having a Down's baby.

• Women who are 45 years of age will normally have. 1 in 30 chance of having a Down's baby.

The odds of conceiving a child with Down's Syndrome may also be associated with a familial genetic irregularity. A person who has a balanced translocation will not show any signs of down syndrome but will have an elveated risk of conceiving a child with translocation Down syndrome. The estimated risk is 1 in 5 for the female carrier and 1 in 50 for a male carrier. In some cases where there is no unattached copy of chromosome 21 the carrier's offspring will all have Down's Syndrome. The affected parent is therefore said to be a translocation carrier. This sort of Down's syndrome is said to occur in 2-3% of all Down's syndrome cases.

Doctors found that what causes Down syndrome environmentally may be the parents' age. For example, a 25-year-old mother has a 1/3,000 chance of having a baby with Down syndrome. By age 35, her risk will have increased to 1/365 and by 45, it will be a 1/30 chance of having a baby with the genetic condition! The latest Down syndrome research suggests that older fathers are now responsible for the 50% rise in risk, when the mother is also over 40.

Even though the odds get worse as the parents age, 80% of these babies are born to women who are 35 or younger. However, that statistic can also be explained because younger women are having many more babies. Younger mothers who smoke and have a meiotic II error or who smoke and take oral contraceptives are at increased risk for having a Down child as well.

During pregnancy, there are several screening tests to examine what causes Down syndrome. Some people get blood tests like the quad screen, which reveals chromosomal disorders between the eleventh and fourteenth weeks of pregnancy. Doctors look for plasma protein-A and the human chorionic gonadotropin hormone.

This test is about 87% effective in making a Down syndrome diagnosis. Ultrasound is another method to check for abnormalities. While these tests may give parents peace of mind, they may also set off a false alarm. Even though 1/20 women test positive, most will go on to deliver healthy babies anyway.