Chandigarh: To avoid genetic defects, close relatives should not marry each other, and thalassemia minor testing should be done. Dr. Suman emphasized the need for advancements in the medical field over time; as such programs are beneficial for knowledge enhancement for doctors. Dr. Neeraj, former President of IMA Chandigarh, mentioned that such programs provide an opportunity for collective discussions on genetics, fetal medicine, and high-resolution ultrasound.
Approximately one or two out of every 100 children have genetic defects, but not all genetic defects require terminating the pregnancy, according to Dr. Harpreet.
Around 100 specialists from North India gathered at Hotel Mariott for the Trisomy Perinatology Meet, where Dr. Neeraj Kumar, Dr. Poonam Kumar, Dr. Harpreet, and Dr. Pallav Gupta were present.
Dr. Harpreet advised that if a family has a history of genetics, they should consult a specialist before planning a pregnancy. Ultrasound plays a significant role in pregnancy, and as soon as pregnancy is confirmed, the first ultrasound should be done, with genetic screening between 11 to 14 weeks and again between 19 to 20 weeks to detect any birth defects.
For the diagnosis of genetic defects:
Consult a specialist before planning a pregnancy.
Confirmatory ultrasound
Repeat screening in the 11 to 14 weeks and 19 to 20 weeks
Anti-scan in the last trimester
Some misconceptions related to pregnancy
Pregnant women often receive more advice from their families than doctors. Advice from experienced elders can be valuable, but not all advice should be followed, especially considering the potential side effects of ultrasounds.
Non-invasive prenatal testing (NIPT) is also necessary for accurate prenatal testing during pregnancy. It is an effective, accurate, and safe way to detect chromosomal abnormalities like Down syndrome well before the birth of the baby.