Facts About Down Syndrome

What is it and why does it happen?

Down syndrome is a set of mental and physical symptoms that
result from having an extra copy of the human Chromosome 21.
This is the result of abnormal splitting of the chromosomes during
the formation of the egg or sperm. The result following
fertilization results in 4 chromosomes !normal human has 2"
pairs or 4# chromosomes$ with three copies of the Chromosome
21% hence the condition is called Trisomy 21.
Down syndrome occurs in people of all races% regardless of their
economic statuses.
The chance of having a baby with Down syndrome increases as a
woman gets older &from about 1 in 1%''' for a woman who gets
pregnant at age 2(% to about 1 in 1'' for a woman who gets
pregnant at age 4'. )ut due to higher fertility rates in younger
women% *'+ of children with Down syndrome are born to women
under "( years of age.
Down syndrome is not a condition that can be cured. ,owever%
early intervention can help many people with Down syndrome live
productive lives well into adulthood. -eople with Down syndrome
have an increased ris. for certain medical conditions such as congenital heart defects%
respiratory and hearing problems% /lzheimer0s disease% childhood leu.aemia% and thyroid
conditions.
/ few of the common physical traits of Down syndrome are low muscle tone% small stature% an
upward slant to the eyes% and a single deep crease across the centre of the palm !see sidebar%
Characteristic 1eatures 2 3ymptoms$. ,owever% it is important to bear in mind that every
person with Down syndrome is a uni4ue individual and may possess these characteristics to
different degrees or not at all. 5ife expectancy for people with Down syndrome has increased
dramatically in recent decades & from 2( in 16*" to #' today.
CAN COUPLES AO!D "A!N# $A$!ES W!%" DS?
7hile the ma8ority of babies are normal% each couple will have a ris. of conceiving a baby with
such a chromosomal condition. The ris. decreases with the age of the mother and her health
status9 There are screening methods to help a couple determine their personalised ris. of an
affected child and diagnostic tests to confirm the diagnosis if needed.
The most accurate way of estimating the ris. of the foetus having Down 3yndrome is the 1irst
Trimester -regnancy 3creen which is carried out at 11 to 14 wee.s of the pregnancy. The ris.
score depends on the following:
; /ge of the mother
; /mount of fluid behind the nec. of the foetus !nuchal translucency$
; -resence or absence of the foetal nasal bone
; 1oetal heart rate
; 5evel of two hormones !free <&hC= and -/--&/$ in the mother0s blood
; -resence or absence of any physical abnormalities
/fter the scan% on the basis of all the above factors% the estimated ris. for Down 3yndrome will
be discussed with the couple. The only way to .now for sure whether or not the foetus has a
chromosomal abnormality is by having an invasive test such as chorionic villus sampling !C>3$
or amniocentesis !amnio$. ,owever% these tests carry a ris. of miscarriage of up to '.(+ to 1+.
3tudies show that the procedure&related loss ris. for both amniocentesis and chorionic villous
sampling is the same.
?t is up to you and your partner to decide whether or not the ris. of the foetus having a
chromosomal abnormality is high enough to warrant having an invasive test. /s a guideline% an
invasive test is usually offered if the ris. of Down 3yndrome is 1 in 2(' or above !which
corresponds to the ris. of D3 at "( years$.
The only well .nown ris. factor for conceiving a child with Down syndrome is advanced
maternal age. The older the woman is at conception% the greater the ris. of having a child with
Down syndrome.
@other0s age at conception Ais. of Down syndrome:
; 2( years 1 in 1%2('
; "' years 1 in 1%'''
; "( years 1 in 4''
; 4' years 1 in 1''
; 4( years 1 in "'
7omen with Down syndrome have a ('+ ris. of conceiving a child with Down syndrome. ?f the
father has Down syndrome% the ris. of conceiving a child with Down syndrome is also increased.
-rior to pregnancy% the couple% in particular% the mother should ensure that she is healthy and
fit as this will help reduce the number of abnormal eggs she produces. /de4uate prenatal
supplementation will also assist in reducing the incidence.
Bach child is uni4ue and special% should your pregnancy be affected% hear both sides of what
the condition means and ma.e a decision as a couple how you wish to proceed with the
pregnancy going forwards.
Down Syndrome Association
1or those who need assistance or guidance on proper care of family
members with Down 3yndrome% they can approach the Down 3yndrome
/ssociation !D3/$ of 3ingapore which aims to educate and assist families
with these special members. ?t is a self&funding% non&profit voluntary welfare
organisation.
Dr& Ann %an Sian Ann ' Obstetrician ( #ynaeco)o*ist
@))3 !3ingapore$% @ACC= !5ondon$ @@BD !C2=$%
1/@3 !3ingapore$% 1ACC=
Women ( Feta) Centre
Address+ 26' Crchard Aoad D2'&'1 -aragon% 3ingapore 2"**(6
Emai) !d+ mailEdranntan.com
%e)+ F#( #** 11'#
Fa,+ F#( #**11'2
Website+ www.anntan.com.sg