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"The prime
aim of antenatal care is to have healthy mother and healthy baby.
Despite adequate antenatal care, in about 2-4% of cases, the pregnancy
can be complicated by structural or chromosomal abnormalities,"
said Dr. Shama Munim, Consultant Obstetrician and Gynaecologist
at Aga Khan University Hospital (AKUH). She was giving a presentation
on "Screening for Chromosomal and Structural Abnormalities" at the
'Signs, Symptoms and Care' a public health awareness programme held
on April 25, 2003 in Hyderabad.
Dr. Munim stressed, "Congenital abnormalities can be broadly classified into chromosomal
or structural abnormalities. These rarely can be a part of some
genetic syndrome. Apart from producing varying degrees of physical
disability the chromosomal abnormalities can also result in some
form of mental handicap. Looking after a baby with physical or mental
handicap is not only devastating but is also a burden on the finances
of the family. These vary from minor form to the most severe form.
Down's syndrome is the commonest chromosomal abnormality and results
in 70% live births. The prenatal diagnosis of Down's syndrome is
therefore an essential part of antenatal care."
Although women above the
age of 35 are among those that are at high risk of developing these abnormalities
along with those with a previous baby with chromosomal abnormality. The vast
majority of these malformations occurs in pregnancies of low risk women and
therefore cannot be anticipated.
"Screening for these abnormalities
can be done based on the previous history and maternal age alone or can be combined
with a blood test. This test is called triple test. Various pregnancy related
hormones are measured and a risk score is given to the mother. It is performed
at 16 weeks. More recently an ultrasound test is available that will give the
risk of having a baby with Down's syndrome (Mongol baby). Here fluid behind
the baby's neck is measured at around 12 weeks of pregnancy. The added benefit
of this ultrasound is that it can diagnose other major abnormalities, explained
Dr. Munim.
Dr. Shama Munim concluded
by saying, "If either of the above mentioned test comes back positive then tests
like amniocentesis or chorion villus biopsy are performed to confirm the diagnosis. The basic principle of the test is to insert a needle in the water around the
baby or in the placenta and testing for chromosomes."
Dr. Zafar Nazir, Associate
Professor, Section Chief of Paediatric Surgery and Consultant Paediatric Surgeon
at AKUH also talked about the surgical treatment of structural abnormalities
diagnosed antenatelly.
The speakers participated
in the question and answer session at the end of the programme.
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