Down's syndrome is a genetic condition involving an extra chromosome, th

is change occurs around the time of conception. A person with Down's syndrome ha
s forty-seven chromosomes instead of the usual forty-six. A relatively common
genetic disorder, Down's strikes 1 out of 600 babies. In 95 percent of all cases
, the disorder originates with the egg, not the sperm, and the only known risk f
actor is advanced maternal age-at age 35, a woman has 1 chance in 117 of having
a baby with Down's; at 40, her odds are 1 in 34.
(Graves, 1990)
People with Down's syndrome all have a certain degree of learning disabi
lity . This means that they develop and learn more slowly than other children. H
owever, most children with Down's syndrome today will walk and talk, many will r
ead and write, go to ordinary school, and look forward to a semi-independent adu
lt life. (Platt and Carlson, 1992)
Facts on Down Syndrome
*Down syndrome is not a lethal anomaly. One to two percent of persons b
orn with this disorder have uncorrectable heart defects at birth. The average li
fe expectancy for all others is now beyond age 55 years.
*Today less than 5% of persons with Down syndrome have severe-to-profoun
d mental retardation. The majority are on the border of mild-to-moderate mental
retardation, and some are exhibiting normal IQ scores today.
*The average reading level for persons with Down syndrome is 3rd grade,
with many reading at 6th-12th grade levels today.
*The vast majority of adults with Down syndrome today can be expected to
live semi- or totally independently and many enter the work force with today's
supported employment programs and some are competitively employed.
Some medical conditions that demand special attention for people with Do
wn syndrome include:
*Congenital Heart Disease: usually in the form of endocardial cushion de
fects, affects 40% of babies and should be screened for by echocardiography soon
after birth as it may well be difficult to detect.
* Gastrointestinal disorders: the most common congenital abnormality of
the gastrointestinal tract associated with Down syndrome is duodenal atresia, al
though pyloric stenosis, Hirschsprung's disease and tracheo-oesophageal fistulae
have all been reported.
* Vision: Three percent of newborns with Down syndrome will have dense c
ongenital cataracts which should be removed early. Glaucoma is also common.
* Congenital Hypothyroidism: This condition is slightly more prevalent i
n babies with Down syndrome. It should be detected by the routine heelprick scre
en performed on all babies.
*Congenital dislocation of the hips: Joint laxity and hypotonia can comb
ine to increase the incidence of hip dislocation, although true congenital dislo
cation is quite rare.
* Sensory deficits: Significant hearing impairments occur in the majorit
y of children with Down syndrome. Annual audiometry and specialist consultation
is recommended.
* Atlantoaxial instability: Up to 15% of children with Down syndrome wi
ll have evidence of instability of the atlantoaxial joint but in only a handful
of cases will this instability result in an impingement on the spinal cord with
resultant neurological signs.
* Physical growth: Physical development is invariably delayed in childre
n with Down syndrome. A tendency towards obesity requires special attention to
healthy diet and exercise habits in this group.
* Dental care: The teeth of children with Down syndrome tend to be small
, irregularly spaced and misshapen. Early and frequent dental care is required t
o ensure adequate dentition for adult life.
* Psychiatric disorders: Psychiatric illnesses occur in people with Down

syndrome with much the same frequency as in the rest of the

*Dementia: Much recent attention has been focused on
ween Down syndrome and Alzheimer's disease. There appears to
ct where having an extra chromosome 21 gives an individual a
veloping Alzheimer's disease. (Newton, 1992)

population.
the association bet
be a gene-dose effe
higher chance of de

A significant amount of research has been conducted on Down syndrome, in

particular many methods to detect Down syndrome in fetuses have been developed.
This is a controversial issue for researchers and for families who have Down s
yndrome children and adults. The following is a discussion of some of the detec
tion methods for Down syndrome, and the facilities in which they were developed.

Jones Institute
Scientists at Norfolk's Jones Institute for Reproductive Medicine say th
ey have overcome most technical hurdles to screening embryos for Down syndrome a
nd many other chromosomal defects before the embryos are implanted in a woman's
uterus.
The institute, part of Eastern Virginia Medical School, hopes to try out the tec
hnique with a handful of high-risk couples who come to the institute for in-vitr
o fertilization, in the near future. (www #1)
Eventually, all couples who go through the Jones Institute may have the
option to screen for Down and most of the other conditions caused by an extra ch
romosome on one of 23 pairs that make up the normal complement. The technique h
as been developed in part to help parents avoid a difficult moral decision - wha
t to do if the fertility techniques cause the mother to become pregnant with man
y children at once. At the same time, it opens up a host of other ethical questi
ons for parents and society as a whole, say people who have children with Down.
(www #1)
According to Kingsley and Levitz (1994), in-vitro fertilization (IVF), i
s a technique in which eggs are removed from a woman's ovaries and combined with
sperm in a dish. The resulting embryos are transplanted into the woman's uterus
. Before transplant, a single cell will be removed and exposed to probes made u
p of genetic material treated with fluorescent dye. Each probe has been designed
to attach to a specific chromosome in the nucleus. Using a special microscope,
a scientist can count the dots of various colors. Three of a specific color mea
ns that there is one extra chromosome of that type.
The institute will test five pairs that account for most chromosomal def
ects. The first cases will be done for free. When the procedure becomes common,
the procedure will add about $2,000 to the cost of IVF, about $7,500. The Chair
man of reproductive endocrinology at the Jones Institute said the procedure was
developed primarily to avoid the multiple births that sometimes happen with IVF
. (www #1)
Most transplanted embryos, and many naturally conceived ones, never take
root and grow because they have the wrong number of chromosomes. In IVF, doctor
s try to improve the odds by implanting three or more, assuming that some will b
e lost. But sometimes, many or all of the embryos are viable. The parents then m
ust decide - do they selectively abort some, or do they take on the hugely deman
ding task of having many babies at once? If doctors could screen the embryos, he
said, they could limit themselves to implanting two and still enjoy a high prob
ability that the embryos will survive.
Nevertheless, the ability to screen out embryos with Down syndrome still worries
families of people with the condition. (www #1)
The option not to have a child with Down already exists. Tests during pr
egnancy can detect the condition. Parents may choose an abortion. Parents of chi
ldren with Down syndrome, say that other parents who choose to discard an embryo
in a laboratory are further removed from the implications of their decision. Do
ctors at the medical center say that they want very much for people confronting
the decision to understand that having a child with Down syndrome can be very fu

lfilling. They says the Jones Institute isn't trying to devalue people with Dow
n syndrome by offering the test. But they say this information has such importa
nt ramifications for the family, if we have that information, we would give it t
o them and they make the choice.
Polar Body Analysis
Physicians at Illinois Masonic Medical center have discovered that they
can determine if a woman will have a baby with Down's syndrome before she gets p
regnant, provided she is willing to undergo in-vitro fertilization. Using an ex
perimental technique called polar body analysis, the genetic material of an egg
can be checked before laboratory fertilization, helping some women avoid abortio
ns.
Chicago researchers at Masonic reported on a yearlong study involving 10
0 women who underwent the polar body procedure, they say that several women alre
ady have delivered healthy babies, and more than 20 are pregnant with no sign of
Down's.
But the possibility exists that the Masonic patients could have achieved the sam
e results without genetic testing. The majority of women who have conventional i
n-vitro fertilization are older and have normal pregnancies. Dr. Charles Strom,
director of medical genetics at the hospital said that, polar body work gives a
35-year-old female the same chance of conceiving a chromosomally normal baby th
at a 21-year-old has. He said at least half the women in the in-vitro fertiliza
tion program are 35 or older. (www #2)
Polar body analysis hinges on basic biology. During normal development,
the human egg contains a sac of excess chromosomes called the polar body before
it gets ready to be fertilized by a male's sperm. Since this sac, is a mirror i
mage of the egg, the genetic content of the egg itself can be determined through
this procedure. (www #3)
Without such testing, about 30 percent of the Down's pregnancies resulti
ng from in-vitro fertilization would have miscarried naturally, and others could
have been picked up by the standard prenatal testing techniques, chorionic vill
i sampling and amniocentesis.
In-vitro fertilization is expensive, labor intensive and often disappointing. Th
e polar body test would add another $2,000 to $2,500 to its costs. (www #2)
The Triple Screen
The "triple screen for Down syndrome" has been in existence for over fiv
e years. However, just this past year, the American College of Obstetricians and
Gynecologists officially recommended that this test be offered to all pregnant
patients of all ages. This implies a legal mandate to practicing physicians who
cannot afford the liability of not offering such a test after a national recomme
ndation has been made. This "mandate" has been met with great controversy. (www
#3)
The "triple screen" actually involves drawing maternal blood to test for
serum levels of three hormones: human chorionic gonadotropin (HCG), alphafetopr
otein (AFP), and estriol (E3). The pattern of the levels of these hormones predi
cts the presence of Down syndrome in the fetuses in up to 60-70% of pregnancies
affected. By using computer formulas, the hormonal levels can be found that are
predictive for a risk of Down syndrome in the fetus that approximates 1 in 190 which is the same risk that a pregnant woman has at age 35. Thus, the test has
been recommended now for women at all ages. If it is "positive", it should be fo
llowed by ultrasonography and then amniocentesis to make a definitive diagnosis.
(www #3)
Some uses of the triple screen are seen as positive by all. If the test
is negative, these results can prevent further unnecessary ultrasonography, or a
mniocentesis, or chorionic villus sampling - for women 35 or over; or for the wo
man with a previous fetus with Down syndrome. Normally these more expensive and
invasive tests would have been recommended in those settings.
It is the use of the test for all pregnant women that begins to stir co
ntroversy.
Only one such serum test has ever been recommended so widely before - the serum
(AFP) alphafetoprotein screen. It is a screening test for multiple types of feta

l defects that affect the "neural tube" in the fetus. These defects include such
problems as anencephaly, holoprosencephaly, or einencephaly, as well as many le
vels of spina bifida. Down syndrome is certainly not the same as the wide range
of anomalies termed "neural tube defects," but the Triple Screen makes it seem a
n equal to many lethal defects.
The triple screen actually detects many more fetal anomalies than Down s
yndrome, including the AFP-related anomalies mentioned above and several lethal
trisomies, such as Trisomy 18. The Triple Screen is called a screen "for Down sy
ndrome" for marketing reasons, as much as for scientific accuracy.
The Triple Screen is, in fact, a very poor screen, identifying only abou
t 65% of fetuses with Down syndrome in utero. No other screen with such low vali
dity has been universally recommended for all pregnant women. Such a recommendat
ion means billions of dollars for the genetics industry and the researchers invo
lved. (www #3)
The screening tests establish the probability of pregnant women having
children with Down Syndrome or Spina Bifida and other neural tube defects. It i
s possible the widespread use of genetic screening for the purpose of identifica
tion and abortion of fetuses with Down Syndrome may adversely affect the quality
of life for all persons with Down Syndrome in the community.
Many groups representing people with Down syndrome have expressed their
feelings about this issue, the following is a summary of some of the wishes they
have expressed.
1. The primary goal of prenatal genetic testing should not be to redu
ce the
birth prevalence of Down Syndrome in the population. Its use should be
directed towards the provision of improved health care. 2.Prenatal genet
ic
testing
should be voluntary. The woman or couple should receive
counseling
that is comprehensive and provided in a language that is easily understo
od by
them. Prior to reviewing written consent for prenatal testing, the coup
le
should be given accurate and up-to-date information on all relevant issu
es
surrounding prenatal genetic testing and Down Syndrome. This information
should be provided in a balanced manner. Each woman or couple should
be allowed to decide whether prenatal genetic testing is appropriate for
them based on informed choice. An appropriate period of time should be
allowed between receiving information and deciding, with written
consent whether or not to proceed with the test. 3. Following a test res
ult
which implies that the fetus may have a probability of a chromosone
abnormality such as Down Syndrome, the woman or couple should be
provided with detailed, balanced information regarding the options
available to them. This information should be provided by a
knowledgeable and qualified health care provider such as those found
in accredited genetic centres. Balanced information should be so
recorded for the woman or couple to review at their leisure.
Opportunities to have the woman or couple speak to parents of
children with Down Syndrome should be offered. (www #4)
It is evident that the debate over screening for Down syndrome is far fr
om settled. It is also evident that people with Down syndrome can make an impor
tant contribution to our society. I think if parents are not prepared to take o
n the challenges of a child with Down syndrome they should have options, should
one of these options be abortion?
I would have a hard time supporting someone's decision to abort, especially havi

ng spent some time with a young boy who has Down syndrome.
There are many support groups for families who have children with Down s
yndrome, there are also many families willing to adopt. The programs at school
for these children are very adaptable to the needs of the individual. Most chil
dren with Down syndrome can go to school and get along well, they make a valuab
le contribution to the classroom and their fellow students. The decision is a di
fficult one and I think that there are many options that need to be explored bef
ore anyone can make an informed decision.
References

Cooley, W. and Graham, J. (1991). Down syndrome - an update and review for the
primary paediatrician. Clin Paed 30 (4): 233-253.
Graves, P. (1990). The intellectually disabled child in Robinson MJ practical
paediatrics
2nd ed. Melboune: Churchill Livingstone.
Kingsley, J. and Levitz, M. (1994). Count us in: Growing up with down syndrome.
New York: Harcourt Brace & Company.
Newton, R.(1992).

Down's syndrome. London: Optima.

Platt, L. and Carlson, D.(1992). Prenatal diagnosis - when and how? NEJM 327
(9):636-638.
Pueschel, S.(1990). Clinical aspects of down syndrome from infancy to adulthoo
d. Am J
Med Gen Supp 7: 52-56
Pueschel, S. and Pueschel, J. (Eds) (1992). Biomedical concerns in persons with
down
syndrome. Baltimore: Paul H Brookes Co.
Pueschel, S. (1992). A longitudinal study of atlanto-dens relationships in asymp
tomatic
individuals with Down syndrome. Paediatrics 89 (6) pg. 1194-11
98.
Selikowitz, M.(1990). Down Syndrome - the facts. Oxford:Oxford University Press.
Stray-Gundersen, K. (Ed.) (1995). Babies with down syndrome: A new parents' guid
e
(2nd edition). Rockville, MD: Woodbine House.
Tingey, C. (Ed.) (1988). Down syndrome: A resource handbook. Boston, MA: Colleg
eHill Press.
www #1. http://www.erms.edu/jones/depthome.htm
www #2. http://ptolemy.eess.edu/ds.html
www #3. http://wwwpino/ds/prenata/nsdcapf.html