ANTENATAL SCREENING OF WOMEN FOR GENETIC RISK
Kulkarni M.
L, Patil S. A
J. J. M.
Medical College, Davangere, India
Objectives: To explore the burden of genetic risk
among pregnant women attending an antenatal clinic attached to major
teaching hospital in Davangere, Karnataka, India.
Method: 1500 consecutive pregnant women attending
the antenatal clinics attached to our teaching hospitals were studied using
a pretested oral questionnaire. Detailed history regarding maternal age,
parental consanguinity, maternal illness, pregnancy associated
complications, family history of genetic disorders including various
congenital malformations, previous obstetric performance with particular
emphasis on pregnancy loss was enquired into. A four-generation pedigree chart
was drawn in all cases to get a better insight, regarding genetic
disorders.
Result: 54.9% of the study population had one or
more genetic risks, 6.3% were elderly primies (³ 35 years), 22.5% were
consanguineously married, 20.9% had an exposure to passive smoking. 0.93%
of mothers had given birth to a child with malformations in previous
pregnancies, family history of congenital malformation in 0.4% of cases,
2.6% had three or more spontaneous abortions and 0.5% had diabetes
mellitus.
Conclusion: In view of this large hidden risk of
genetic disorders among the pregnant women attending the antenatal clinics,
we recommend routine USG at 20 weeks for congenital anomalies, TORCH
screening, triple test for screening Down syndrome and carrier detection
for thalassaemia.