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A helping hand for the
foetus |
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Mr.
and Mrs. R, a young couple expecting their first baby, went
for a scan at 22 weeks. As the scan progressed they realised
something was not quite right. They were told that baby had
a valve that was obstructing the urinary passage; so urine
was filling up in the bladder and dilating the ureters and
causing pressure on the kidneys.
Mr S and his wife had just lost
their first son. He had thalasemia and had required multiple
transfusions. In this second pregnancy they wanted to know
if this child had the same problem.
Lakshmi, the wife of a fruit
vendor, had miscarried thrice earlier. This time too they
were told that there is a significant problem and sent for
specialised opinion. Tests and scan showed that she was Rh
negative and that the foetus was anaemic since its blood cells
were being destroyed by the mother's antibodies to Rh positive
blood - what is called as Rh isoimmunisation. |
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| When a couple discovers that they
are going to have a baby it is most often an incredibly tender moment.
A pregnancy is a period of happiness and expectation. There is something
intangible that bonds not just the expectant parents but the entire
family to this unborn child. So when sometimes things go wrong the
impact on the whole family is immense. For the parents-to-be, their
dreams are shattered. |
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Advances in medical
technology have made it possible to detect problems
in the foetus and even treat them while still in the
womb. But in India we still have a long way to go
to make pregnancies safe and improve foetal health.
This requires a motivated and combined effort from
healthcare professionals, the government and the public,
says DR. UMA RAM. |
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| Integral role |
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Advances in
technology and medicine have made it possible to diagnose many abnormalities
in the foetus while it is still within the womb. This helps pick
up problems that are potentially treatable. At the same time one
can detect lethal anomalies and facilitate early terminations when
indicated. Indeed many conditions such as Rh isoimmunisation can
be treated effectively by transfusions to the foetus while within
the womb. Foetal medicine, therefore, plays an integral role in
improving perinatal outcomes.
After detailed scan and counselling,
Mr. and Mrs. R were offered a solution. A small tube could be placed
under ultrasound guidance to allow the urine to flow out of the
bladder, relieve the pressure on the kidney and prevent the backing
up of urine. Once the baby was born a simple surgical procedure
could be done to open up the valve. The shunt procedure went smoothly;
the baby was delivered, treated post-delivery and is doing well
now.
Mr. and Mrs. S were counselled and
a chorionic villous sampling was done in which a small amount of
tissue was taken under ultrasound guidance from the placenta. Genetic
studies showed that this baby was only a carrier and not affected
by the disease. The couple chose to go ahead with the pregnancy
with the reassurance that the baby would be normal.
Lakshmi's baby was extremely anaemic and needed immediate treatment
to prevent intrauterine demise. Within hours, the foetus underwent
intrauterine transfusion to correct the anaemia. This procedure
needed to be repeated three times, the pregnancy followed up and
the baby delivered. Today the boy of 14 dreams of becoming a doctor.
The couple had the joy of having a baby and got treatment that they
could not afford completely free of cost. They therefore celebrate
the day of his birth every year by coming to Mediscan Systems, the
institution that gave them this baby.
On a larger perspective, one of the
main challenges in maternal and child health in India is the very
high perinatal and neonatal morbidity and mortality. A significant
proportion of this arises from birth defects and potentially correctable
and treatable problems. Having diagnosed problems and treating those
that can be corrected, we are still left with many conditions where
children survive with disability or require long-term treatment
and management.
Many of the birth defects are preventable
by simple interventions such as giving mothers folic acid and B
12 prior to pregnancy. Determining the prevalence of birth defects
in our country and trying to understand the factors that cause these
are absolutely essential. Only when we know what the problems are
can we develop strategies and put programmess in place to prevent
and minimise these birth defects.
In India, neural tube defects remain
the most common birth defects with a prevalence of 24.8 / 10,000
births as noted from data collected over a period of nine years
by the birth defects registry of India. This prevalence has not
decreased in this period.
What we need to understand is that,
especially in case of NTD, the damage is done before the woman realises
she is pregnant. For instance, when the baby is forming and growing
in the womb, the spinal cord and brain develop from a structure
call the neural tube. This tube is formed and closes between 15-28
days of the pregnancy. Exposure to a teratogen before this time
may cause a neural tube defect (NTD). After day 28, the neural tube
is closed, and malformations of closure can no longer occur. Similarly,
the oral structures and lips are formed by day 36.
Therefore if there is a problem that affects the development of
these organs, the damage is done well before the woman even comes
to a doctor to confirm her pregnancy. In some women, such as those
who have epilepsy, those on anti epileptic medication and diabetics
the risk of NTD is increased.
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| Preventives |
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It is very well
known that giving folic acid and B12 pre pregnancy helps prevent
the occurrence of birth defects especially neural tube defects.
Seventy per cent of NTD can be prevented by this pre-conception
supplement. Therefore all women planning a pregnancy should have
supplements of these two vitamins at least two months before conception.
This awareness should spread and increase
and women should take the folic acid and B12 continuously until
and through the first three months of pregnancy. This is the reason
why it is advocated as an "engagement pill". Often despite
being told, women discontinue after a few months if a pregnancy
does not happen.
Women should also check if they are
immune to Rubella (German measles) through a simple blood test.
If not then they should ideally have the vaccine and defer pregnancy
to three months later. This is another simple step often forgotten
by women planning pregnancy. Those who have medical problems such
as diabetes, hypertension, epilepsy and mood disorders should seek
advice before planning a pregnancy. Optimising disease control and
switching to relatively safe medications help prevent birth defects
and safer pregnancies.
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| Support system |
Prevention is
the first aspect of reducing the burden of birth defects. Diagnosis
of these problems within the womb and offering foetal therapy when
possible is an important aspect of care. Despite the best of efforts,
there will be children born with problems; some of which may correctable
and some not. Support for this group of children and their families
is a significant aspect of care that is lacking in most parts of
our country.
It is with this three-pronged philosophy
that The Foetal Care Research Foundation was born: preventive, curative
and supportive care of the foetus. The three families mentioned
earlier could have the specialised care only because of the complete
support given to them by FCRF.
An attempt to understand the epidemiology
of birth defects in our own country is a vital first step towards
implementing preventive strategies and programmes.
It is for this that the birth defect registry of India was started
in 2001. This is a pioneering effort of immense national importance.
This registry has been analysing trends in birth defects distribution
for the past nine years. This registry now functions in over 500
hospitals across the country, collects and collates data pertaining
to birth defects. This registry has analysed 580,000 deliveries
across India so far.
It is a point to note that the first
and only functioning birth defect registry in India is a completely
voluntary effort initiated by Dr. S. Suresh, Dr Indrani Suresh and
Foetal Care Research Foundation. It consists of a group of personnel
who help identify birth defects and perform detailed autopsy, histopathological,
genetic and morphological studies. Obstetricians, pediatricians,
neonatologists, sonologists, clinical geneticists and welfare workers
have been encouraged to actively participate in this registry and
help identify and understand birth defects. That such an extensive
initiative has been initiated sustained and built by a couple of
dedicated individuals in a private organisation should serve as
role models for others.
In 2007, The Federation of Obstetric
and Gynaelogical Societies of India (FOGSI) decided to join hands
with BDRI and FOGSI-BDR was initiated with Dr. Suresh as the 'National
Coordinator'. This initiative is expected to cover a large number
of births to make the registry more effective
Having diagnosed problems and treating
those that can be corrected, we are still left with a lot of conditions
where the children survive with disability or requiring long-term
treatment and management. For this group of children and their families,
both in terms of guidance about the nature of treatment possible
and support in providing that care is a huge need.
Making pregnancies safe and improving foetal health in a country
such as ours with many issues and problems requires a motivated
effort from the health professionals and the public besides the
government.
Let us all join hands to strengthen
the cause of the unborn baby and the mothers to be and make pregnancies
safe and happy.
The writer is a Chennai-based obstetric-gynaecologist. E-mail her
at seethapathyclinic@gmail.com
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| Care for every foetus |
The Foetal Care
Research Foundation (FCRF), a not-for-profit charity trust was established
in 1993 with a vision and desire to offer access to the most advanced
foetal care for every foetus. The aims of this foundation are: To
provide preventive, supportive and curative care for birth defects
To provide foetal care irrespective of the economic status of the
parents To evolve strategies to reduce birth defects in the country
The establishment of the Birth Defects Registry of India, the MPS
support group and introducing new born screening are some of the
key achievements of FCRF. The MPS Support Group established in 2003
has been involved in Diagnosis confirmation; Rehabilitation - Yoga
and Physiotherapy; Diagnosis at affordable cost; Cure and Support
by which 139 families avail free-of-cost treatment. Annual multispeciality
clinics give comprehensive and holistic care for these children.
Dr Ashok Vellodi, an international expert in MPS along with a team
of doctors from Chennai lead by Dr Sujatha Jagadeesh, conducts these
clinics. FCRF also introduced Newborn Screening (NBS) in 2005 in
Chennai. Through a partnership between FCRF and the Tamil Nadu government,
a task force was set up for birth defects prevention with FCRF in
the lead. Over 1000 newborn babies were screened in the Govt. Women
and Children Hospital, Egmore, free of cost. Subsequently as a principal
investigator under the ICMR newborn metabolic screening task force,
over 13,000 newborns have been screened and will continue till 2011. |
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Copyright © 2010 "THE HINDU"
Dated - 4th July, 2010 - click here |
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