Sunday, 24 July 2011

Caring for the Unborn - The Coming of Age of Foetal Medicine

Published in "Weekend", the Friday Magazine of The Khaleej Times



Caring for the “Unborn” …. The Coming of Age of Foetal Medicine


The wail of the new born is music to the mother’s ears! You may liken its entry into your life to the monsoon rain giving you a new lease of life. The sheer joy and thrill of holding this bundle of joy close to you and cuddling it, may be an experience unparalleled by any other. The world around will be transformed and focused on new baby. Even as you find out you are pregnant, you may get busy deciding baby’s name, the colour and decor of nursery and just about everything to do with this new, all important arrival. However, not all mothers, not all parents, may be fortunate or lucky to enjoy this experience with absolute comfort!

For, 3%-5% of all pregnancies end in some kind of a tragedy, reveals Dr.P.G.Natrajan, a Specialist Obstetrics and gynaecology and Foetal Medicine of Canadian Specialist Hospital, Dubai. According to the Annual Report 2002 recently released by the Preventive Medicine Department at the Ministry of Health, 5% of children in the world are born with congenital and hereditary disorders and 40% of adults are genetically predisposed to such diseases during their lifetime. Further, congenital anomalies accounted for 324 and 321 deaths, respectively, in 2002 and 2001. 44% of congenital disorder related deaths occurred during the first seven days of life in 2002. According to the report, 2 million out of the world’s 100 million annual births are accompanied with major congenital malformations.

Some of these problems are very immediate where the child has serious problems and may need a corrective surgery; some of them happen later and may involve mental or physical abnormalities in the child. But the heartening news is that Foetal Medicine today has come of age and specialists in the field are able to identify if not all, many of the problems that can happen at various stages of intra-uterine development of the baby and in some cases even take remedial measures, assures, Dr.Natrajan.

According to the same report from the Pre¬ventive Medicine Depart¬ment at the Ministry of Health, “the progress of the international human genome research and development witnessed in the field of genetic tech¬nology will be helpful in identifying the genetic risk factors that cause different diseases as well as an effec¬tive treatment for these ailments.”

Dr Natrajan feels that it is the moral responsibility of the specialists to translate these rapid advancements in the field of Foetal medicine, to the practical benefit of the population at large. He would encourage couples to go in for pre-pregnancy counseling when they decide to have a baby. This is done with a view to avoid preventable abnormalities in the baby. Dr Natrajan explains, “We want to reach out to women during pre-pregnancy and early pregnancy, screen them and advise certain precautions to avoid tragedies. We want them to be alert to the idea of early detection so as to avoid heartaches following childbirth. Ideally, a consultation before pregnancy will lead to a proper planning should there be suspicions of any problems. “People plan for their weddings, months in advance, ask for advice, consult and visit their tailors a hundred times….why not make just one visit to be counseled before they plan a pregnancy..?”

When do problems in pregnancy start appearing? To begin with, pregnancy starts off with the meeting of the egg and the sperm, bringing dramatic changes in a woman’s womb and body. The moment the first cell is formed, it starts dividing and begins progressing into multiple cells out of which a streak of tissue is formed. This tissue slowly develops and becomes an embryo out of which the baby develops. So it’s a series of very, very complicated steps that results in a complex human baby to develop in the mother’s womb, from a single cell.

Problems can begin right at the fusion stage of the egg and sperm reveals Dr.Natrajan. This is because certain diseases are caused by inherited abnormalities and these inherited problems could be chromosomal, gene, or metabolic in nature, which the egg and sperm bring along with them. The result could be that a baby may be affected with Thalassemia, Down’s syndrome, Cystic Fibrosis and a host of other diseases caused by one or more these three factors. (The presence of these damaging factors in a couple, for very specific diseases can often be determined by simple screening tests. For example thalassemia carrier status is suspected by doing a simple blood count called “CBC with Indices”).

From this point onwards, as development begins to take shape, external insults, can cause problems in the developing baby. For instance, the mother could be exposed or contract an infectious disease like chickenpox, German Measles, or she might accidentally take a tablet or get exposed to radiation from X Ray without knowing she is pregnant.

As the pregnancy progresses further, the treating gynaecologist may observe that the child is not growing adequately in the womb or that the amniotic fluid (fluid around the baby) is not normal. Finally as the woman reaches the last four weeks of her pregnancy, a supply-demand compromise to the baby can occur which can, in severe circumstances, have a lasting effect on the child’s ability to develop certain important skills

Then there are the high risk pregnancies in which the babies may develop disabilities due to lack of oxygen or failure to grow caused by pregnancy complications. In such instances, the baby may be saved from serious damage by delivering them prematurely.

Yet another category of women who develop pregnancy related problems are those who repeatedly loose pregnancies or lose a child. These may happen as early as the 6th week and even as late as, the 9th month of pregnancy. It is possible that these cases could have a genetic cause for their problem and these couples who desperately seek answers can be helped with information.

Thanks to advancements in foetal medicine, many of these categories of women, having problems at various stages of pregnancy, can be helped, their inherent problems can be picked up as early as in the 10th week of pregnancy, identified and a solution given, either in terms of treatment options, management or coping skills to accept and deal with what may be inevitable in the case of non-modifiable risks, explains Dr.Natrajan.

To begin with, simple blood tests on the mother in the 10th and 15th weeks of pregnancy will give information on the probability of a woman giving birth to a baby with common chromosomal abnormalities, neural tube defects, etc. These are screening tests to identify patients who have otherwise low risks for the conditions mentioned above. Those found to have a higher risk can then be counseled and offered a specific prenatal diagnostic (PND) test to prove or disprove the suspicion raised by the screening test. Even in the low risk category (Low risk is not zero risk) some patients may want to have a definitive answer about for e.g. Down syndrome. They can be counseled and offered a PND test. The screening blood tests, together with serial ultrasonography done during the various stages of pregnancy, will be able to reveal the existence of many problems in the child. Screening tests in pregnancy should be offered to every pregnant woman after counseling them, emphasizes Dr.Natrajan.

He further explains about PND tests, “Through these techniques we can reach many parts of the pregnancy including taking a biopsy from the placenta, collecting a sample of the amniotic fluid, collecting a blood sample from the baby from the umbilical cord. In fact, we can even take a sample from the foetus itself, like a liver or kidney biopsy if we suspect that there is a particular disease for which the information needed can only be obtained by taking these samples. The tiny samples obtained from these techniques can be analysed in very special laboratories to try and identify the presence or absence of a specific disease. Many types of tests can be carried out for e.g. Hormone levels in the baby can be estimated and if a baby has thyroid deficiency, we can pick it up because thyroid deficiency can cause mental retardation. There is as yet no technology by which we can detect all known diseases from one single sample, so our procedures for collecting a sample and the technology used in the laboratory has to be very specific. We must therefore know in advance what we are looking for and select our methods for that specific problem. It also depends on the stage of pregnancy at which we address the issue. For instance, if a woman comes to us in the 5th month, we can only do certain types of tests like the amniotic fluid or the blood test.”

Though done in an active ongoing pregnancy, none of these tests involves any harm to the baby itself if conducted by a specialist, says Dr.Natrajan, reassuringly. He explains that the procedures are guided by ultrasonography, and hence can be done with extreme precision, reaching within ½ mm of the target, causing, if any, the most minimal disruption to the pregnancy. It is delicate and precise. It is therefore important that these tests are carried out only at centres having experts with vast experience in the field (for internationally quoted risk figures related to PND please see the BOX). These are very useful techniques and mothers who need to avail of these scientific advances also need to have the reassurance that they are in the best hands. A Foetal Medicine Unit (FMU) under the leadership of Dr Natrajan has been created at the Canadian Specialist Hospital in Dubai to offer these services for this region. This is a unique centre, explains Dr Natrajan, because it is an “all under one roof” service. His FMU is supported by in house infrastructure (Advance genetic Laboratories) and specialists (Clinical Geneticists, Cyto Geneticists and a Molecular Genetic laboratory).

The importance of such early diagnosis cannot be overstressed since it increases the range of choices for parents and from the treating doctors point of view for the further management of pregnancy or where relevant for prompt after delivery correction to maximize a successful outcome of the pregnancy.

Pregnancy induced hypertension and diabetes in the mother, growth retardation and decreased amount of amniotic fluid around the baby, are all complications that are required to be dealt with. These are monitored by doing serial sonographies and watching the growth of the baby in the womb very closely on growth charts. This would allow the specialists to assess whether the baby’s growth is deviating from the normal and what is the significance of the deviation should it occur. Similarly, the baby’s heart rate can be monitored, from which a lot of information can be obtained about the neurological competence of the baby. The quantum of blood flow to the baby and the oxygen supply to the baby’s brain can be metered, explains Dr.Natrajan.

All this and more is being offered at the Foetal Medicine Unit which aims to reduce the incidence of children born with disabilities. When an ultrasound scan is performed, the question, uppermost in the parents’ mind is whether their baby is normal. Every parent worries about the possibility that his or her baby will have a birth defect or a medical condition that may threaten the child. OSCAR-the soon to be introduced One Stop Clinic for Assessment of Risk is a boon for pregnant women.

Dr.Natrajan explains the objective behind this idea is, “When a woman comes in, after obtaining a history , we counsel her as to what exactly we are going to look for, the value of these tests, the. After doing an ultrasonography, we have her blood sample taken in our lab. In a short time, the lab report will be ready and together with the sonography result, we will be able to tell her the chances of her having a child with a problem. If, however, we observe that there may be a risk of anything going wrong , we can discuss it with her and with her consent; we can straightaway perform the next test to provide a 100% confirmation of the problem. Because most of our tests do not require a great pre-operative preparation, we can offer it to her on the spot. So in one visit she can have almost most of the doubts clarified and feel reassured.”

As part of their objective to create awareness among the population, the hospital would be hosting a permanent exhibition in its premises where people can walk in and get information that can be useful to ensure a smooth pregnancy reveals Dr.Natrajan. We also intend to go out into the community and offer screening for some common disorders like thalassemia.

The Fetal Medicine Unit of the hospital will offer counseling for couples with a background of bad obstetric history like a previous intra-uterine death, repeated miscarriages, stillbirths and women who have given birth to abnormal children.

Women who have taken certain medications or have been exposed to infectious diseases during pregnancy, will also be counseled by the specialists and appropriate tests and assessment, will be advised accordingly.

Elaborating on this aspect Dr.Natrajan explains, “For instance, if someone has been taking medication for epilepsy. This may lead to a higher chance of neural tube defects in the baby. But you can counter that by giving the woman certain vitamins. However for this counter-measure to be taken, the women had to be first aware of the implications of these hazards during pregnancy and also know that they could have the opportunity to be counseled before they plan a pregnancy

Since the final four to six weeks of any pregnancy are very crucial from the point of possible compromise of oxygen supply to the baby’s brain, the hospital offers a programme of targeted monitoring of pregnant women from 34 weeks onwards. This is done with the aim of monitoring the fetal wellbeing so as to avoid any fetal compromise by fine tuning the time and method of delivery. This can be an “add-on” care, carried out in collaboration with the obstetrician with whom the patient is registered for her antenatal care and delivery.

An important activity is a special “pregnancy loss assessment (phone-in) service to gynaecologists in other hospitals and clinics. Explaining the rationale behind this Dr.Natrajan says, “If for example, a gynaecologist from a hospital or clinic has a patient who has had a missed abortion or intra-uterine death. She/he can call us so that we can collect a sample before they remove the pregnancy because once a pregnancy is removed; often the material is lost or contaminated. For our part, we would study this sample and gain information on the possible reason for the woman’s repeated mishaps. We can preserve some of the important material like DNA so that in case a future research shows that we can come to a definitive conclusion on a particular case we will have the means to offer the couple the benefit of this scientific advance. This information will enable us to suggest remedial measures if available, to prevent repetition of the event or our ability to identify a problem early, when the woman plans a pregnancy the next time.”

The 24-hour phone-in service would also come in handy when fellow-gynaecologists from other hospitals and clinics would require urgent information on certain aspects of the pregnancy. Dr.Natrajan explains, suppose a pregnant woman walks into her gynaecologist’s room and says she’s accidentally taken a certain drug or that she has a has had a child in the past with a certain problem. The gynaecologist may immediately get to us, through our phone-in service to learn the implication of her patient’s possible risks.” The hospital is here to make its impact felt, both at the level of the general public and at the level of the medical fraternity.

Box Item on Dr. P.G. Natrajan

Dr.Natrajan, a graduate and post graduate from the University of Bombay, underwent specialist training in Prenatal Diagnosis in the UK from 1975 to 1981 during which period he was admitted as a Member of the Royal College of Obstetricians and Gynaecologists, UK. In 1990 he was awarded the Fellowship of the Royal College.

Dr.Natrajan established the Prenatal Medicine Unit at the Nanavati Hospital Bombay, in 1987. This was modeled on the Foetal Medicine Unit service at the Obstetric Hospital, UCH, London. He also set up the Thalassemia Control Programme at the Bai Jerbai Wadia Hospital for Children, Bombay, in technical collaboration with the Perinatal Centre and the Department of Obstetrics and Gynaecology, University College Hospital, London. He was the Project Coordinator and Consultant Obstetrician to this programme which was funded by the Overseas Development Agency, UK and was recognized by the World Health Organisation. He has performed over 5000 prenatal diagnostic procedures for the detection of many genetic conditions.

Having been trained in Obstetric Ultrasonography in London, he has performed over 30,000 investigations in the Prenatal Medicine unit in Bombay. The ultrasonograph assessments were for early pregnancy detection, Foetal Abnormality Surveys, growth assessments and Biophysical profiles for foetal wellbeing and as part of prenatal diagnostic procedures.

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