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Genetic Counseling - Introduction |
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As the ultrasound department grew and complex
antenatal diagnosis were made, it became important to provide information,
guidance and counseling for families faced with problems. This resulted
the development of an exclusive genetic counseling department. Couples
who have had problems in previous pregnancies and those who have genetic
disorders in their families are counseled here. |
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Four Categories of Counseling: |
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Pre-pregnancy counseling |
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People with family /personal history of physical
/ mental deformities with or without consanguinity are offered counseling
regarding the probability of the risk they carry for the particular
disorder. |
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Example:
Mr. x and Mrs. x came for premarital counseling. They were
first cousins. Ms X had lost her brother at 20 years of age.
The boy was born at term, had birth asphyxia, neonatal jaundice
and convulsions from day 4. All motor and mental milestones
were delayed. He was kept stable on anticonvulsants. He was
admitted for prolonged and recurrent seizures at age seven.
The possible diagnosis after a series of investigations was
Adrenoleukodystrophy. There was neuroregression from 12 years
of age. The boy progressively lost acquired milestones. He
died at 20 years of age. There are no other affected members
in either side of the family. The exact etiology of his condition
is not clear. Adrenoleukodystrophy is an X linked disorder.
50% of female offsprings could be carriers and 50% of male
offsprings could be affected. However, no confirmatory diagnosis
has been done. Hence we will not be able to predict the risk
of a similar nature in his sister's offsprings. |
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done karyotyping for Ms X and Mr. X to rule out chromosomal
abnormalities. The reports are normal. We have started her
on periconceptional folic acid and Vitamin B12 supplement
from now onwards.We extend our best wishes to the couple.
They may contact us for further advice when her pregnancy
is confirmed. |
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Antenatal Counseling |
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Antenatal counseling is done at our centre for women with |
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Abnormalities detected in pregnancy
Prior pregnancy losses
Previous pregnancies / children with abnormalities
Need for antenatal diagnosis of problems. |
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Counseling is also done for downs syndrome screening.
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Downs syndrome occurs in about 1 in 600 pregnancies
all over the world. Down’s Syndrome is a chromosomal abnormality
where the child is born with an extra chromosome 21. This manifests
as varying levels of mental retardation, heart defects, low muscle
tone and some gastrointestinal (stomach and bowel) defects.
Any woman can have a baby with Downs syndrome and therefore there
are screening tests for this.The risk of having a baby with Downs
syndrome varies with the mother’s age. Even though as the
mothers age increases, the risk increases, 70% of babies with Down’s
Syndrome are born to younger mothers and therefore screening is
offered to all women. |
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At our centre,
we counsel women for screening and offer definitive or invasive
testing when indicated... click
here |
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Work up of Index case with
anomaly |
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Parents with an affected child are offered
counseling. The nature of the problem of the previous child and
its recurrence risk. Is worked up and explained to the parents.
If diagnosis is not assigned for the index child, the child is subjected
to diagnostic tests. In case of an ongoing pregnancy prenatal diagnosis
is attempted to diagnose the problem in the fetus. This process
facilitates the parents to know that the current pregnancy is normal
or carries a baby with the same defect.. The state of the art Cytogenesis
laboratory and the Clinical laboratory of the organization cater
to these patients. For molecular diagnosis of specific and rare
genetic disorders samples are sent abroad for diagnosis. |
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Example: A couple
had come to us for pre pregnancy counseling. On reviewing their
history, both their children were affected with Farber's disease.
Farber's disease is a metabolic disease due to Ceramidase
enzyme deficiency. We had contacted laboratories abroad
where enzyme estimation as well as mutation analysis are being
done. Since it is a very rare disease, very few laboratories
are involved in this process. |
| One of the
professor in France - Dr. Levade was willing to do the test
at free of cost (patient belonged to a low socio economic
group) parents sample along with the child's blood sample
was sent to France and there it was detected as Farber's disease.
With this index child's work up, now we can proceed with the
prenatal diagnosis in the subsequent pregnancies. Presently
the mother has an ongoing pregnancy and Prenatal is planned
in January 05. This will be first prenatal procedure
in INDIA for Farber's Disease |
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Fetal autopsy counseling |
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Also parents
with complete work up of previous bad pregnancy outcome
with postmortem report of the previous child or
with bad obstetric history are also counseled in
detail and guidance given for planning the next pregnancy. |
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| Related services |
| Apart from counseling services and meticulous
documentationof records all patients, the department is also actively
involved in the activities of the Birth Defects Registry of India
and the Support Group for MPS. The Cytogenetics Laboratory and the
Fetal Pathology Unit of the organization work in unison with the
counseling department for the benefit of the patients. |
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