APPROACH TO GENETIC PROBLEMS IN A RURAL SETUP

Dr. Shantanu Abhyankar

M.D. (Ob & Gy)

Modern Clinic,
Wai (Satara)
Maharashtra, INDIA

PIN 412 803

Mb 98220 10349

INTRODUCTION

Though India is being looked upon as a rapidly urbanizing society it is still a long
way to go before the medical services available to the urbanites are as readily available to
the rural masses. Rural practitioners find themselves in a very peculiar predicament. They
are faced with a demand for the best out come with minimum expenditure. Financial
considerations often overrule necessity. Medical insurance is non-existent and companies
that do offer medical insurance, anyway exclude pregnancy and related disorders.
Illiteracy, especially amongst the women, blind faith, social taboos, the low social status
of women, ill conceived notions about pregnancy, birth defects and untoward out come
all contribute to a rural practitioner’s woes.

In rural areas, Doctors are (still) next to god. They are expected to provide clear
unambiguous directions as to what to do next and ‘yes’ or ‘no’ answers to all queries. All
the talk about counseling in a non-judgmental and non-directional manner comes a
cropper when faced with such a clientele.

This not to suggest that it is a lose-lose situation; it is quite the contrary. With a
little bit of insight in the subject, a rural practitioner can offer his expertise and services
to the optimum.

WHAT DOCTORS CAN DO?

Be net Savvy.

Doctors need to net savvy. This is the least that they are expected to do. With
internet, access readily available, getting on the net is as easy as breathing. Sites such as
http://www.nlm.nih.gov/medlineplus/geneticbirthdefects.html
http://www.cdc.gov
http://www.birthdefects.co.uk
http://www.marchofdimes.com/pnhec/4439_1206.asp
provide a wealth of information.
Promote Rubella vaccination

Rubella is a mild disease in adults but causes serious disorders in their babies.
Fortunately, we have a single dose, effective vaccine. Though many rural women are
likely to be immune from natural infection, giving the vaccine is not going to cause any
harm. Textbooks advise an IgG test to access need for vaccination. This test is costly, not
readily available, and has to be interpreted with caution. It is better to vaccinate, than to
test and vaccinate, if need be. Not many rural women will seek pre concept ional advice
and avail of this service. They visit a doctor only several weeks after missing a period.
Nevertheless, there are three groups of women who can be readily offered vaccination.
Women undergoing treatment for infertility may be advised vaccination after due
counseling. So also, post-partum and post-abortal patients may be offered this injection.
Contraception for a period of three months post vaccination has been advised for the fear
of iatrogenic vertical infection, since this is a live vaccine. Nevertheless, these fears are
now considered more imaginary than real.

Promote preconception folic acid

Folic acid prophylaxis can be offered to prevent neural tube defects. A dose of
400 to 500 mcg daily is suggested for at least three months before conception. Though all
couples are expected to seek counseling before conception, no one really turns up for this
in rural areas. Practically we can offer this to post-abortal women, to women on O.C.
pills and to women taking treatment for infertility.

Picking up Thalassemia

Thalassemics are the tip of the iceberg and thalassemia traits are much more
common than we presume. Thalassemia is common in certain communities in India.
Consanguinity will add to the problem. Ideally, a person needs to undergo Hb & CBC
with blood indices, hemoglobin pattern analysis and HbA2 determination by HPCL
method for a diagnosis as normal, trait or thalassemia major. However, certain features in
the heamogram can help as indicators, and thus be used as cheap, universally available
screening test. One may thus cull cases that are high risk for having the thalassemia trait.
An RBC count of over 4.5million/cmm, with a MCV of <72fl and MCH of <22 pg is
indicative of some type of hemoglobinopathy. This simple test should be a part of your
antenatal profile.

Correct interpretation of TORCH tests

There are misconceptions galore as far as these tests are concerned. Certain
guidelines need to borne in mind. Firstly, none of the TORCH agents is responsible for
recurrent pregnancy loss. Secondly if ever we have to rationally diagnose and treat
TORCH we should be running the test, on paired sera, drawn at least three weeks apart.
Testing just once is useless, not informative enough and a waste of money. While a raised
or rising IgM (regardless of the quantum) will suggest active infection, which beckons
attention; a raised IgG suggests that the woman is presently immune to infection by that
particular agent. A rising IgG, where levels rise by over 4 times in those paired tests, will
indicate rekindling of disease and will need to be tackled. For all the agents maternal
infection does not mean fetal affection. TORCH is not a routine screening test and in
absence of any stigmata in the fetus, the results will throw up more questions than
answers.

Get recognized as a genetic center.

Any place undertaking prenatal diagnostic studies needs to be recognized under

the PNDT act. Such recognition is necessary even to undertake the simplest of tests such
as amniocentesis. The conditions to be fulfilled are very simple and all gynecologists will
find it very easy to conform to these conditions. It is thus advisable to get your place
recognized as a genetic center and not just as an ultrasound clinic. By so doing, you will
be able to undertake any of the prenatal diagnostic procedures yourself. Most of these
procedures are simple and easy (many certainly easier than a vaginal hysterectomy).

Follow up problems to the hilt

Advise patients to follow up and investigate any anomaly to the hilt. Mental
retardation, blindness, hearing loss, abnormal facies, physical deformities, chronic
anemia or jaundice all need to be thoroughly investigated and diagnosed to the last
syllable. Usually when a condition is incurable or fetal loss has occurred, the relatives are
not very enthusiastic about correct diagnosis. Getting a consent for autopsy is always
tricky. They should be told that a correct and complete diagnosis may lead to better
management of the next pregnancy.

Consanguinity

This has its disadvantages as well as advantages! It maintains family ties and
retains property within the family. The practice has evolved and is prevalent in many
communities around the globe. In India, marriages between first cousins (children of a
brother and sister marrying each other) and uncle-niece marriages are frequent.
Counseling for a prospective nuptial relationship is very tricky. It should made clear at
the very outset that by accepting or refusing a prospective relationship one is only
reducing (or increasing) the risk of undesirable consequences of consanguinity. One can
never nullify the risk of having a child with birth defect. The risks for multifactorial
(NTD, cleft lip/palate, etc:) and autosomal dominant disorders are increased for the
progeny of a consanguineous couple. However, these always appear to be exaggerated.
The population risk is 2 to 3% while for the couple it is around 5 to 6%!
CONCLUSION
Though faced with many hurdles the rural practitioner can contribute to reducing
the burden of birth defects in the society. With the advent of internet, the gap
between a village and a city is narrowing. The rural practitioner thus should keep
up with the times.