Down syndrome is a genetic disorder caused by a duplication chromosome.
Patients with Down syndrome have two copies of chromosome 21 so they are
born with 47 chromosomes as opposed to the normal 46.
During the second trimester, ultrasound can be used to note markers
for increased likelihood of Down syndrome, but not all markers are
created equal. According to a study doctors should look for a specific set
of markers associated with the highest risk.
Although it is possible to inherit some types of chromosomal
abnormalities, most chromosomal disorders (such as Down syndrome and
Turner syndrome) are not passed from one generation to the next.
Human cells normally contain 23 pairs of chromosomes, for a total of 46
chromosomes in each cell . A change in the number of
chromosomes can cause problems with growth, development, and function of
the body’s systems.
Alpha-fetoprotein (AFP) is thought to be the fetus’s version of albumin. It is produced during the development of the fetus by the yolk sac. In the pregnant woman, AFP is produced by the liver during gestation.
Down syndrome is on every pregnant woman’s mind. The onset of Down Syndrome has been linked to different conditions during gestation, but there is really no concrete evidence about its true cause.
When a woman becomes pregnant past the age of 35, she is considered to
be of advanced maternal age. As a woman ages, her egg stores are lower
and the remaining eggs may not be as healthy and viable as they were
when she was in her 20s.
Obstetricians are constantly looking for better ways to diagnose Down syndrome. Currently, women with high risk factors associated with Down syndrome are urged to undergo amniocentesis.
BPA, or Bisphenol A, is an ingredient in some plastics and other
household items. The chemical has been in the news for more than a year
thanks to several research studies proving negative side effects on the
fetal level with maternal exposure.
With the development and perfection of genetic testing, every chromosome
in the human body can be tested for faults and defects. This testing
can and does take place while the fetus is in-utero, so what is stopping
couples from aborting a fetus because chromosomal testing reveals an
The age at which women are choosing to start a family is getting older and older. With increased age comes a greater risk of Down Syndrome (Trisomy 21) at birth.
This Down syndrome calculator will project the statistical risk of a baby having Down Syndrome (DS) based on the mother's age.
There are several ultrasound markers for Down syndrome which can be seen on sonogram during pregnancy and which can possibly indicate an increased risk for the fetus having Down syndrome.
The quad marker screen is a blood test done between 15 and 20 weeks (usually closer to 15 weeks), that will help to recognize the risk of the fetus having certain birth defects.
The first trimester screening tests is also known as nuchal translucency screening, or NT, is a prenatal test that involves ultrasound and a blood test that can help determine the likelihood of having Down’s Syndrome or some other chromosome abnormality.
Our Down syndrome risk calculator will calculate your risk of Down syndrome based on your age and established published scientific information.
Around 11-12 weeks many doctors perform a transvaginal sonogram to measure the fetal neck (nuchal translucency) to assess the risk of Down syndrome.
Occasionally a so-called 'echogenci focus' or bright spot is seen in the heart of the fetus. There is an agreement that the foci are not an indication of abnormal cardiac anatomy, but it has been suggested that these foci may be an indicator of an increased risk of Down syndrome in the fetus.
A pyelectasis is a dilatation of part of the kidney. At 21 weeks, the renal pelvis can often not be seen separately from the kidney.
Most miscarriages are associated with chromosome anomalies, and trisomy 9 (three No. 9 chromosomes) is among the most frequent anomaly found in miscarriages (about 7-8% of miscarriages), and only trisomy 16 (about 16% of miscarriages) is more frequent.
Over the last decade, new technology has improved the methods of detection of fetal abnormalities, including Down syndrome. Many but not all fetuses with Down syndrome have one or more so called 'markers' on ultrasound.
What is the risk of having another Down Syndrome baby?
What are my odds of delivering a Down syndrome baby?
You can screen for Down syndrome by ultrasound as early as 11-12 weeks.
Screening is done with an ultrasound (sonogram) examination and two
blood tests, and it can detect up to 90% of Down syndrome fetuses.
NT or nuchal tranlucency is measured around 11-13 weeks of the pregnancy to assess the fetus for risk for Down syndrome and other anomalies.