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Down syndrome (Trisomy 21)

Identical Twins Reveal How One Extra Chromosome Upsets the Entire Genome

Approximately one baby out of every 800 has Down syndrome, also known as
trisomy 21. A rare opportunity led to the discovery that the chromosome
abnormality that causes trisomy 21 seems small but it upsets the entire

Women 35+ Less Likely to Have Babies with Anatomical Defects

A study revealed a decreased risk of anatomical defects by as much as 40% when the mother is older.

New Study Explains High Number of Chromosome Errors in Human Eggs

As many as 60% of a woman's eggs are thought to be defective by errors
in chromosomal division. These errors represent the number-one cause of

New Down Syndrome DNA Test 10 Times More Accurate

The latest edition of the New England Journal of Medicine includes
the story on a DNA test that is ten times more accurate than those in wide use today and it can be done much earlier in the pregnancy, too.

Down Syndrome (Trisomy 21)

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.

Some Down Syndrome Markers More Important Than Others

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.

Are Chromosomal Disorders Inherited?

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.

Can Changes in the Number of Chromosomes Affect Health and Development?

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 (Serum) During Pregnancy

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.

Getting Screened for First-Trimester Down Syndrome can be a Tough Decision

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.

Advanced Maternal Age and Pregnancy

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.

New Blood Test Detects Down Syndrome Early in Pregnancy

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 Could Increase Down Syndrome Risk in Unborn Fetus

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.

Designer Babies Could be Tested to Perfection

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

New Test for Trisomy 21 Less Invasive

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.

Down Syndrome Risk Calculator

This Down syndrome calculator will project the statistical risk of a baby having Down Syndrome (DS) based on the mother's age.

Down Syndrome - Ultrasound Sonogram Markers

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 Screen Test

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.

First Trimester Screen Test - Nuchal Translucency

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.

Down Syndrome Risk Calculator -

Our Down syndrome risk calculator will calculate your risk of Down syndrome based on your age and established published scientific information.

Ultrasound Examination And Nuchal Screen For Down Syndrome Risk

Around 11-12 weeks many doctors perform a transvaginal sonogram to measure the fetal neck (nuchal translucency) to assess the risk of Down syndrome.

Bright Spot Echogenic Focus In The Fetal Heart And Down Syndrome Risk

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.

Pyelectasis of the Fetus in Pregnancy

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.

Recurrence Risk of Trisomy 9

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.

Down Syndrome Ultrasound Markers

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.

Recurrence Odds - Down Syndrome

What is the risk of having another Down Syndrome baby?

Odds - Down Syndrome

What are my odds of delivering a Down syndrome baby?

Down Syndrome Screening

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.

Fetal Nuchal Thickness

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.

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