Dr Emili - Your Genetic Guide

It was a gloomy evening, a couple came to me for genetic counseling with many reports. prescriptions, previous counseling reports, invasive testing reports and many more. They were looking very depressed. By a long conversation with them I came to know their first born son is diagnosed with Tuberous sclerosis type 2, after his genetic diagnosis parents also underwent WES analysis and though the reported pathogenic variation detected as a de novo variation. parents came out as carrier for 2 common genes with variations. That time they were pregnant with their second gravida. and amniocentesis followed by prenatal WES reported that fetus as compound heterozygous for one of those common gene reported in parents. Incidentally in that gene both the variations were of uncertain significance, and no anomalies reported in that fetus, but due to lack of understanding and their fear with their first child's genetic problem. they took the decision for MTP. Now they took the decision to proceed with IVF with donor o**m, as they were concerned regarding genetic diseases, they opted for carrier screening in the anonymous donor. Which reported her as a carrier for a X linked recessive pathogenic variation. Now they shattered and somehow reached me. I have done the common gene variations status checking and found now one of the variant reported as Likely Benign. Counselled them. explained all possible outcomes and after two times of counseling, they took the decision they will try to conceive normally. With them I planned for every screening, from conceiving to prenatal testing to delivery, they were with me. Today morning I received the good news. And this great honor of being the mother of a newborn, whom I did not gave birth. I am overwhelmed. As a genetic counselor this is a blessing a honour for me. I am not a clinician, a researcher a genetic counselor, till we can have the honour

Going for District Learning Assembly, Rotary 2026

Tiday my morning started with this message, feeling blessed

An woman going through estrogen treatment for her ART treatment reported with a alarming LFT profile, which was consistently getting worsen in spite of preventive treatment. So the clinician refer for genetic counseling, to find out the reason. UGT1A1 gene TA repeat no test reported she is homozygous for 7/7 repeat allele. Which is reported to cause reduced UGT1A1 function. Here my query is whether it will be good to test genetic variants which are reported to cause fatal effect on estrogen treatment?

Ray of hope for thalassemia cases