12. You Should Also Know
Down Syndrome
Nearly every pregnant woman receives
information on Down syndrome. Older women have traditionally been
offered various tests to determine whether their fetus is affected by
the condition.
Down syndrome was given its name by British physician J. Langdon Down in the 19th century. He found babies born with the syndrome have an extra chromosome 21; this is called aneuploidy. The normal number of chromosomes in humans is 46. With Down syndrome, an individual has 47 chromosomes.
Down syndrome is the most common
chromosome abnormality and the most common cause of mental retardation.
It occurs in about 1 in 800 births. Those born with Down syndrome today
can live fairly long lives. Some women are at higher risk of giving
birth to a child with Down syndrome, including
older women, those who have given birth previously to a child with Down
syndrome and those who have Down syndrome.
Many tests are available that screen for Down syndrome in a developing fetus. Tests include:
• maternal alpha-fetoprotein test
• triple-screen test
• quad-screen test
• nuchal translucency screening
• ultrasound
Tests to diagnose Down syndrome include amniocentesis and chorionic villus sampling (CVS).
ACOG Recommendations. The American College of Obstetricians and Gynecologists recommends all
pregnant women be offered screening for Down syndrome, regardless of
their age. In the past, testing for Down syndrome was usually offered
mainly to women over age 35 and others who were at risk. Even though
many women would not consider terminating a pregnancy with a
Down-syndrome child, it’s important to know this information before
baby’s birth so specialized care can be planned for delivery.
Although the condition occurs at a higher
frequency in older mothers, the majority of babies born with Down
syndrome are born to younger women. Younger women give birth to a larger
number of babies, therefore, a larger number of babies with Down
syndrome are delivered to younger women. Eighty percent of babies born
with Down syndrome are born to women under age 35.
If your healthcare provider offers you
this screening test, consider it. Ask any questions you may have about
the condition, and, together with your partner, decide whether to have
the test. This information is most useful when screening is done during
the first trimester.
Down Syndrome Children Are Special. People want to know if there are any positive aspects of giving birth to a child with Down syndrome. The answer is “Yes!”
A child born with
Down syndrome can bring a special, valuable quality of life into the
world. Down children are well known for the love and joy they bring to
their families and friends. They remind us of the pleasure in doing
simple tasks when they learn new skills. They embody the concept of
unconditional love, and we can often learn how to cope and to grow as we
interact with them. Many families are on waiting lists to adopt
children with Down syndrome.
Rearing a child with Down syndrome can be
challenging, but many who have faced this challenge are positive about
it. If you have a child with Down syndrome, you may work harder for
every small advance in your child’s life. You may experience frustration
and feelings of helplessness at times, but every parent has these
feelings at some time.
All parents-to-be should know the
following facts about children born with Down syndrome. The average IQ
for a child with Down syndrome is between 60 and 70. Most are in the
mildly retarded range. Some children with Down syndrome have normal IQs.
IQ scores for those with Down syndrome have risen steadily in the last
100 years. Less than 5% of those with Down syndrome are severely to
profoundly retarded.
The reading levels of those with Down
syndrome who are in special-education programs in public schools range
from kindergarten to 12th grade. The average is about 3rd grade.
Nearly 90% of all those with Down
syndrome are employable as adults. Most adults with Down syndrome are
capable of living independently or in group homes. People with Down
syndrome have an average life expectancy of about 55 years, if they
survive infancy.
13. Fetoscopy
Fetoscopy provides a view of the baby and
placenta inside your uterus. In some cases, abnormalities and problems
can be detected and corrected.
The goal of fetoscopy is to correct a
problem before it worsens, which could keep a baby from developing
normally. A physician can see some problems more clearly with fetoscopy
than with ultrasound.
The test is done by
placing a scope, like the one used in laparoscopy, through the abdomen.
The procedure is similar to amniocentesis, but the fetoscope is larger
than the needle used for amniocentesis.
If your healthcare provider
suggests fetoscopy, ask about possible risks, advantages and
disadvantages of the procedure. The test should be done only by someone
experienced in the technique. Risk of miscarriage is 3 to 4% with this
procedure. It is not available everywhere. If you have fetoscopy and are
Rh-negative, you should receive RhoGAM after the procedure.
14. Chorionic Villus Sampling
Chorionic villus sampling (CVS) is a
highly accurate diagnostic test used to detect genetic abnormalities.
Sampling is done early in pregnancy, usually between the 9th and 11th
weeks. The test offers an advantage over amniocentesis because it is
done much earlier, and results are available in about 1 week. If a
pregnancy will be terminated, it can be done earlier and may carry fewer
risks to the woman.
Chorionic villus sampling involves placing
an instrument through the cervix or abdomen to remove fetal tissue from
the placenta, which can be tested for abnormalities. Over 95% of women
who have CVS learn their baby does not have the disorder for which the test was done.
If your healthcare provider recommends
CVS, ask about its risks. The test should be performed only by someone
experienced in the technique. The risk of miscarriage is small—between 1
and 2%—and the test is considered as safe as amniocentesis. If you have
CVS and are Rh-negative, you should receive RhoGAM after the procedure.
15. Find Out Baby’s Sex This Week?
You may have seen gender tests advertised
that use your blood or a urine sample to determine baby’s sex. They are
often offered on the Internet. But experts agree tests available today
may not offer accurate results.
One over-the-counter test claims it can predict your baby’s sex as early as this week. Called the IntelliGender’s Gender Prediction Test, it uses
a simple urine test to provide immediate results that indicate baby’s
gender, based on a color match. Green indicates boy, and orange
indicates girl.
However, before you rush off to buy the
test, you should realize test results are actually only about 80%
accurate. They only indicate the possibility of determining whether baby is a girl or a boy.
To do the test, you use your first morning
urine. You need to avoid sexual relations for at least 48 hours before
taking the test, and you can’t be taking any hormones, such as
progesterone.
The Pink or Blue test is another
at-home test developed to determine baby’s gender by examining DNA of
the mom-to-be. Research has shown fetal DNA can be found in a mother’s
bloodstream. A woman sends a small sample of her blood to the lab, and
results of the test (boy or girl) are sent to the parents-to-be. The
makers of the product claim the test is 95% accurate and can predict a
baby’s sex as early as 6 weeks after conception.
Dad Tip
Are you concerned about sex during
pregnancy? You both may have questions, so talk about them together and
with your partner’s healthcare provider. Occasionally during a pregnancy
you’ll need to avoid intercourse. However, pregnancy is an opportunity
for increased closeness and intimacy for you as a couple. Sex can be a
positive part of this experience.
Some medical authorities are
concerned some couples may consider ending a pregnancy because of baby’s
sex, based on the result of these tests. If you have questions or
concerns, discuss them with your healthcare provider.
16. Exercise for Week 10
Kneel on your hands and knees, with your
hands directly below your shoulders and knees directly under your hips.
Inhale as you raise your head and gaze forward. Then exhale as you
slowly bring your head down, round your back and shoulders and tuck in
your tummy. Do 4 times. Stretches back and tummy muscles, and increases flexibility.
