Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?

Ayomide Olubummo 12Ta
Amniocentesis: should it continue to be used as prenatal technique for
Down syndrome?
Amniocentesis is a method of prenatal screening that is widely used in Britain,
one of the main uses of this
procedure is to check whether a
foetus will have Down syndrome. This
report addresses the problem of
diagnosing Down syndrome prior to
birth. This essay will investigate
whether amniocentesis is the most
effective and safe prenatal technique
for Down syndrome. People care
about this problem because this
disorder affects a large number of
Figure 1- diagram showing extra 21
people all over the world, with over
chromosome in Down syndrome sufferer.
1
60,000 people in the United
Kingdom being affected by Down syndrome. It is important to assess the
effectiveness and safety of the method to ensure that women who may
potentially have offspring with Down syndrome undergo the best prenatal
technique for detection thus allowing them to effectively plan ahead.
Down syndrome
Down syndrome is a genetic disorder that arises from the presence of an extra
21 chromosome (see figure 1) that causes some level of learning disability and
a characteristic range of physical features2.Children with Down syndrome suffer
from general hypotonia (poor muscle strength and elasticity), mental retardation,
growth retardation, and are at significant risk of congenital malformations of
which heart problems are the most
common. Amniocentesis is currently one of
the most widely used methods of prenatal
screening, it is important to evaluate the
benefits and risks associated with this
method in order to validate continuous use
of this method.
There are several methods for the
detection of down syndrome prior to the
birth of a child and with the damper the
disorder puts on the quality of life of the
sufferer it is important to use the best and
most effective method of early diagnosis in
order for the parent to make an informed
decision about the fate of their foetus who
suffers from Down syndrome.

Figure 2- Image showing extraction

of amniotic fluid in amniocentesis
procedure

The problem of the best method of prenatal diagnosis arises, as a result of the
variety of techniques that are available for the detection of Down syndrome prior
to birth.

The procedure of Amniocentesis

1

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta
Amniocentesis is usually carried out during weeks 15- 20 of pregnancy. An
ultrasound is carried out prior to amniocentesis to identify the needle insertion
site. The needle is used to extract a sample of amniotic fluid, the fluid which
surrounds the foetus in the uterus. (See figure 2) The amniotic fluid contains cells
shed from the foetus that can be examined and tested for a number of
conditions through karyotyping which involves counting the chromosomes and as
such can detect the extra 21 chromosome present in sufferers of Down
syndrome. The test is only usually offered to women when there is a significant
risk their baby will develop a serious condition or abnormality, this is due to the
invasive (it involves going into the body) nature of the procedure. The procedure
has a small associated risk of miscarriage (loss of pregnancy) estimated one in
1003.
Studies have investigated the validity of the foetal loss rate using amniocentesis.
I chose these studies because they directly investigated the safety and
effectiveness of the amniocentesis procedure (study 1), and compared it to other
prenatal techniques available for the detection of Down syndrome (study 2).As
the safety of the procedure and the effectiveness are one of the two most
important factors in deciding whether amniocentesis should continue to be used
as a prenatal technique, I felt these two studies were the most appropriate and
relevant to the problem being assessed.
Study 1:
This study below is important to the problem of whether amniocentesis should
continue to be used to diagnose Down syndrome prior to birth, as it looks at the
safety of the procedure.
Description of the method
A review of all the amniocentesis procedures performed between 2004 and
December 2008 in Turkey, Karaelmas University, Faculty of Medicine. They
gathered data from all the amniocentesis procedures carried out in this time
period and used the data to calculate the rate of spontaneous loss.
Spontaneous loss was defined as any unintentional pregnancy loss at < 24
weeks of gestation. A total of 447 amniocentesis specimens were processed
during the study period. The mean ( SD) maternal age was 31.82 6.30
years.4 The results are displayed in the table 1. The method is reliable because
it uses a relatively large sample size collected for a long period of time. It is valid
as it looks at a range of different conditions in pregnancies. The method is also
valid because the data allows the rate of spontaneous loss when using
amniocentesis to be calculated, it provides data that is useful to the problem
being addressed.
Table 1: Data regarding the spontaneous losses with amniocentesis
Total number of amniocentesis
procedures performed
Number of spontaneous losses

447
4

This study shows the spontaneous loss rate of amniocentesis was 0.89%. They
concluded that it would be useful for each centre that provides amniocentesis to
investigate its own pregnancy loss rate so they can provide a firmer basis for its
policy for counselling women requesting amniocenetesis 4. This rate of
2

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta
spontaneous loss is quite low and suggests that the amniocentesis is a safe
procedure. This in turn suggests amniocentesis could continue to be used as
prenatal technique for genetic disorders like Down syndrome as the risk of foetal
loss is low.
However the data generated from this study only takes into account the risk in
that faculty, so perhaps as the study states that method of the study should be
replicated in other hospitals and health centres that offer amniocentesis, in order
to get a figure that is more appropriate for the whole population.
Study 2:
Another study investigated the effectiveness of
amniocentesis when detecting Down syndrome
and compared it to an alternative method:
cordocentesis.
Description of method:
A retrospective study5 was carried out on all
patients in the diagnosis centre of Second
Xiangya, China. They compared patients who
received amniocentesis and cordocentesis (see
Figure 4). The indication of the procedure,
successful rate and complications were
evaluated. The sample consisted of 669 patients;
598 of these patients received amniocentesis
and 71 received cordocentesis.

Figure 3- Image showing

extraction process in
cordocentesis procedure

RESULTS:
CORDOCENTESIS
ACHIEVEMENT
91.54%
RATIO( INDENTIFICATI
ON OF DOWNS)
SPONTANEOUS
1.41%
ABORTION RATE
COST OF PROCEDURE
880 YUAN
TABLE 2: DATA COMPARING AMNIOCENTESIS AND

AMNIOCENTESIS
100%

0.33%
800 YUAN
CORDOCENTESIS

The method may be invalid because of the different number of people used in
the different procedures- a greater number of patients underwent amniocentesis
in comparison to the cordocentesis number, this suggest the sample may be
biased to towards amniocentesis and also make it difficult to accurately compare
the two procedures. The method is appropriate as it produces data that is valid
to the question being addressed therefore we are able to draw accurate
conclusions as to whether amniocentesis should continue to be used as prenatal
technique for Down syndrome.
CONCLUSION:
The study concluded that, amniocentesis is safer and more effective, compared
to cordocentesis (another popular method for the detection of Downs). The
3

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta
complications of cordocentesis are much higher than those of amniocentesis,
which is not a proper routine procedure for prenatal diagnosis of abnormal
karyotype.
This study also suggests thats amniocentesis should continue to be used as a
prenatal diagnostic technique for Down syndrome as it shows that amniocentesis
is more effective at diagnosing Downs as it has a 100% achievement rate, the
high achievement rate also suggest that amniocentesis is an appropriate solution
method for the detection of down syndrome
The data from this study supports the data given from the other study. It also
shows that the rate of spontaneous abortion when using amniocentesis is also
very low (0.33%). This supporting data also suggest that the data from both
studies are valid.
Implications of amniocentesis
There are many ethical implications of the test. When the amniocentesis test is
carried out for the detection of Down syndrome, studies shows that there is a
90% + termination (abortion) rate when a pregnancy receives a definitive prenatal diagnosis of Down syndrome6. This raises the ethical issue of right to life,
as some believe that abortion is murder as they believe life begins at conception,
therefore destruction of this life for whatever reason should be forbidden. This
view has led many to boycott amniocentesis as a tool of diagnosing Down
syndrome as they believe it will lead to more and more people considering and
undergoing abortions. Another implication of amniocentesis is the lifelong regret
felt by mother who may have aborted their child as a result of the procedure
showing the foetus would suffer from Downs.
An economic implication of the use of amniocentesis is that it is a quite
expensive procedure costing approximately 6208 in private hospitals; this
means only the rich would be able to afford the procedure in a country like
America where there is no free national healthcare service. This would lead to
the poor being potentially less prepared for the arrival of their child with Down
syndrome placing high stress on the mother when the child is born.
Benefits:
Amniocentesis allows Down syndrome to be diagnosed prior to birth therefore
preparing the parents for the birth of the child and allows them to make
preparations they deem appropriate for the future of the child, it is seen as a
way of avoiding disaster9. This is beneficial because some parents simply could
not cope mentally with having a child with Down syndrome while others could
perhaps not handle the financial strain having a child with Down syndrome would
place on the family. Amniocentesis is therefore needed to effectively figure out
the best solution for the parents. Amniocentesis also has quite low spontaneous
miscarriage rate therefore the risk to the foetus is low when the procedure is
being performed. These advantages lead to the belief that amniocentesis could
be continued to be used as a prenatal screening technique for Down syndrome.
Data from study 2 (see table 2) suggests that amniocentesis should continue to
be used because it is economically beneficial in comparison to alternative
methods like cordocentesis. This is apparent because amniocentesis is cheaper it
costs 800 Yuan (80.13) compared to cordocentesis (880 Yuan= 88.14).

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta
Another benefit of the procedure is that amniocentesis can be carried out quite
early in the pregnancy; therefore the parents have ample time to come up a
decision regarding the faith of their foetus if the child extra 21 chromosome is
found.
Risks
There is the risk of injury from the needle as the placenta may be punctured by
the needle in order to access the amniotic fluid. Problems may arise if the
placenta doesnt heal properly and this has led some to believe that the practise
should be discontinued. In very rare cases, an infection may develop if the
procedure introduces bacteria to the amniotic sac (the sac surrounding the
foetus that contains amniotic fluid). This can cause; fever, tenderness of the
abdomen and painful contractions.
The risk of developing a serious infection form amniocentesis is estimated to be
less than 1 in 1,00010. There is also a risk of a false positive from the procedure,
which could lead to the abortion of a healthy foetus or perhaps in some cases the
birth of a child suffering from Down syndrome to parents who were expecting a
healthy child. This false positive could lead to stress being placed on the
unsuspecting parents.
Alternative solution 1:
An alternative solution to the diagnosis of
Down syndrome prior to birth is through the
use of chorionic villus sampling (see figure 4)
which involves tissue extracted from the
placenta undergoing a karyotype test in which
the Down syndrome can be spotted.
An advantage of this alternative to
amniocentesis is that a larger sample of tissue
can be extracted for the karyotype test
meaning the test leads to less false positives.
Another advantage of this procedure

Figure 4- Image showing

extraction process in chorionic
villus sampling procedure

compared to amniocentesis is that it can be carried out earlier on in the

pregnancy, meaning the parents have more time to make the decision
concerning their child. However this test has a higher risk of miscarriage
(1.5%) compared to amniocentesis so is less safe for the child as a healthy
child is more likely to be lost with this procedure.
Alternative solution 2
An alternative solution to the use of amniocentesis is the use of pre-implantation
diagnosis (see figure 5). During an operation oocytes are removed by a syringe.
The oocytes are fertilised with sperm outside the body. The cells are allowed to
grow into embryos and the embryos undergo pre-implantation diagnosis. A
healthy embryo without Down syndrome is then inserted into the body.
5
Figure 5- Image showing stages of pre-implantation
diagnosis

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta
An advantage of this
solution over amniocentesis is that only a healthy
embryo is allowed to grow
there are no abortions as a
result of this procedure.
However this procedure is a lot
expensive than amniocentesis
is a deterrent to some. This
solution is believed to be
unethical by some people because it involves the
destruction of the extra embryos produced by the
fertilisation; they believe this is wrong because they believe the
embryos have a right to life.

so

more
which

Bibliography
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Author: Downs syndrome association.
Date published: Not given
Date used: 27/01/2014
Evaluation of source: I believe this is a reliable source because the
information I received from this site was corroborated by information from
other sites. I believe the information received from this source is also valid
because the organisation which runs the website is very prestigious so
the information given on the site is probably highly regulated and with
errors. This is a trustworthy source because the organisation that runs this
site is a registered charity therefore can be trusted because there is an
obligation to the supporters of the charity to only display correct
information. The site looks quite modern which suggest the information
displayed is quite recent and therefore still relevant.
2) URL http://www.nhs.uk/Conditions/Downssyndrome/Pages/Introduction.aspx
Author: Not stated
Date last reviewed: 24/01/2013
Evaluation-I believe the information received from this website is valid and
trustworthy because it was obtained from the official NHS site. This leads
me to believe the information is valid because this is government
endorsed website so it must be trustworthy. The date at which it was last
reviewed is also quite recent suggesting the data from this site is still
relevant and probably valid because the information is constantly
reviewed and amended. This website is reliable because other website
sites regarding this topic reported similar information.
3) http://www.nhs.uk/Conditions/Amniocentesis/Pages/How-is-itperformed.aspx
Author: Not stated
Date last reviewed: 24/01/2013
Next review due: 24/01/2015.

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta
I believe the information received from this website is valid and
trustworthy because it was obtained from the official NHS site. This leads
me to believe the information is valid because this is government
endorsed website so it must be trustworthy. The date at which it was last
review is also quite recent suggesting the data from this site is still
relevant and probably valid because the information is constantly
reviewed and amended.
4) Authors: Arikan, I. , Harma, M. , Barut, A. , Harma, M. and Bayar, U
Date published: 15/01/2010
Title of paper: Fetal loss rates after mid-trimester amniocentesis
Publishing information: DOI: 10.4236/health.2010.24047
Pages used; 315-317
The method used in this paper has been carried on in other research
studies to get consistent results which suggest the data from this source is
reliable.
5) Authors: Wang L, Wang X, Zhang S, Zhou Z, Zhu F, Ding Y.
Date published: April 2013
Title: Application and evaluation of invasive prenatal diagnostic techniques
and analysis of chromosomal karyotype
doi: 10.3969/j.issn.1672-7347.2013.04.011.
Journal: Journal of central south university
Volume: Medical science 2013
Pages used: 400-401
6) URL: https://www.disabilityinfo.org/blog/?p=3682
Date published: 23 October 2013
Author: Julie Messina
Date published: 29 October 2013
This site may not be as reliable as the others because it is from a blog
perhaps displays information that is biased to the thoughts of the author.
However the date published is the most recent suggesting the data is the
most relevant and representative of current times.
7) URL: http://www.thelondonultrasoundcentre.co.uk/private-pregnancygynaecology-fertility-gender-4d-3d-baby-scan-prices/
8) http://web.ntpu.edu.tw/~markliu/prenatal_genetic_testing.pdf
9) http://www.nhs.uk/Conditions/Amniocentesis/Pages/Complications.aspx
10)
Title: Down syndrome
Author: Mark Selikowitz
Pages used: 198
Published by: Oxford University Press in 2008

Amniocentesis: should it be continue to be used as a prenatal technique

for Downs syndrome?
Ayomide Olubummo 12Ta