Screening Tests to Detect Down Syndrome During Pregnancy By Soma Banerjee

Rapid urbanization and spread in education in women have one hand created a lot of progress in the society but in its wake some unwanted conditions have also surfaced. The major change has come upon the women of society who have progressed in leaps and bounds. This has increased the age for marriage in most of the urban household. Today getting married at 30 and having the first child after 35 is a common phenomenon. Though it has lot of advantages, one major disadvantage that has been seen, is to give birth to children with some or other physical or mental disability.

Although it doesn't happen all the time and to everyone yet the risk does increase...
The most common abnormality seen in late conception is Down Syndrome... it is the most common clinical cause of mental retardation in the world. It occurs once in every 1,500-2,000 births when the mother's age is below 25; one in every 400 births when the mother's age is over 35; once in every 40 births when the mother's age is over 45. A mother with a child with Down syndrome has a one-in-25 chance of recurrence.

Here I'll try to tell a little about the Syndrome and the tests that are available to detect Down Syndrome during pregnancy only.

The term Down syndrome is taken from the name of the English physician, Dr. John Langdon Down, who is credited with first describing the condition in 1866.The individuals with Down syndrome possess additional genetic material in their cells, usually an extra chromosome
Some of the physical characteristics observed in persons with Down syndrome include the following:

o The back of the head is often flattened,
o The eyelids may be slightly slanted,
o Small skin folds at the inner corners of the eyes may be present,
o The nasal bridge is slightly depressed, and the nose and ears are usually somewhat smaller.
o In the newborn there is often an excess of skin at the back of the neck.
o The hands and feet are small and the fingerprints are often different from normal children.
o Their muscle strength and tone are usually reduced.
o About one-third of children with Down syndrome have congenital heart disease.
Affect of Down Syndrome:
o All areas of development may be delayed in a child with Down syndrome.
o Poor muscle tone influences gross and fine motor development but this can be improved with physical therapy
o language development delays due to muscle problems which can be improved by language/speech therapy
o Since mental retardation is very common, higher integrative abilities such as the ability to think abstractly and to form concepts are likely to be affected.

With appropriate training, they can secure employment, often in the competitive job market, especially through supported work programs. Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with Down Syndrome can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace - which is why it's important not to compare a child with DS against typically developing siblings or even other children with the condition.

Prenatal Screening and Diagnosis

It is suggested that if you are above 33 years of age at the time of your first pregnancy, do get these tests done to be free from any type of anxiety...

Two types of prenatal tests are used to detect Down syndrome in a fetus: screening tests and diagnostic tests. Screening tests estimate the risk that a fetus has Down Syndrome; diagnostic tests can tell whether the fetus actually has the condition.
Screening tests include:

o Nuchal translucency testing. This test, performed between 11 and 14 weeks of pregnancy,
o The triple screen or quadruple screen (also called the multiple marker tests). These tests are typically offered between 15 and 18 weeks of pregnancy.
o Integrated screen. This compares the blood test reports of first and second trimester.
o A genetic ultrasound. A detailed ultrasound is often performed at 18 to 20 weeks in conjunction with the blood tests, and it checks the fetus for some of the physical traits abnormalities associated with Down syndrome.
Diagnostic tests include:
o Chorionic villus sampling (CVS). The advantage of this test is that it can be performed during the first trimester, between 8 and 12 weeks. It carries some extra risk of miscarriage.
o Amniocentesis. This test, performed between 15 and 20 weeks of pregnancy, involves the removal of a small amount of amniotic fluid through a needle inserted in the abdomen. The cells can then be analyzed for the presence of chromosomal abnormalities. Amniocentesis carries a small risk of complications, such as pre-term labor and miscarriage.
o Percutaneous umbilical blood sampling (PUBS). Usually performed after 20 weeks, this test uses a needle to retrieve a small sample of blood from the umbilical cord. It carries risks similar to those associated with amniocentesis.

Although most of the parents after knowing that the fetus is suffering with Down syndrome go for abortion, I feel it's absolutely the parents choice to or not to go for Medical Termination of Pregnancy. Though it might cause them a little more effort to bring up their differently able child, it may be a real joy for them to see the kid growing up. These kids are any time more lovable and loving. They remain innocent all their life and THEY DO GROW UP AS ANY NORMAL CHILD MAY BE A LITTLE LATE.

So if you are a proud parent of a child suffering from Down Syndrome, Please don't take it as a curse but take it as a blessing from God!!! You do have a child to love and care rather than without a kid.