First blog post

This is the post excerpt.

Dear all,

This is Dr Rachna Gupta, Fetal Medicine Specialist in Sonepat, Haryana, India. I have started writing blog to discuss about prenatal screening.

The couples/families who visit us usually ask after the scan if everything is normal or if it can be made sure that unborn child is perfectly normal. We need to understand that there are limitations of the prenatal tests in defining health the way we define it. Medically, health is defined as being free from physical or mental illness or injury. Most of the kids who are born are free from physical or mental illness and are so called healthy. Still, India has huge burden of genetic / chromosomal / congenital diseases (26.7 million live births per year):

Disorder Incidence Births/year
 Congenital malformations 1:50 534,000
All chromosomal disorders 1:200 133,500
Down Syndrome 1:800 34,300
Metabolic Disorders 1:1200 22,250
B-thalassemia + Sickle Cell Disease 1:2700 14,000
Congenital Hypothyroidism 1:2500 10,700
Duchenne’s Muscular Dystrophy 1:5000 (M) 2,700
Spinal Muscular Atrophy 1:10000 2,700
All single gene disorders 1:100 267,000

We’ll discuss in upcoming blogs how much we can identify on prenatal scans and tests and how much we actually need to identify.