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.
W hen 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.
Integral role
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.
Preventives
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.
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.
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.
Contact Fetal Care Research Foundatation, 197, Dr. Natesan Road, Mylapore, Chennai 04.
Ph: 044-24663150, 24663146. Fax: 04424988226
E-Mail: fcrfchennai@yahoomail.com
Website: >http://mediscansystems.org/fcrf/fcrf_aboutus.asp
>http://mediscansystems.org/bdr/bdr_aboutus.asp
>http://www.facebook.com/pages/FCRF/
