When Genetics Becomes Personal

As medical professionals, we often stand on the secure side of the consultation table. We counsel families, we explain test results and we break news with care. We then step back into the clinic’s rhythm. But when the storm knocks at your own door, the entire perspective turns upside down. 

This was not a planned pregnancy. And yet, once we saw those two lines, hope quietly anchored itself in our lives. My wife, a gynaecologist, carried on with her work despite the exhaustion and discomfort of pregnancy. She took night shifts, stayed on her feet in the labour room, and soldiered through the demands of her profession. She did all this even while managing her own swelling, nausea, and backache. We believed that if we just kept going, the journey would be fine.

The early scans gave us reassurance. Growth was fine, fluid was normal, Dopplers were steady. The only quirk was a single umbilical artery. A red flag, yes, but one that we had managed many times before in patients. At 25 weeks, we even did a detailed fetal echocardiogram, since SUA can be linked with heart defects. It came back normal. For a while, we allowed ourselves to breathe.

At 21 weeks, the femur (thigh bone) measured at the 27th centile. Respectable. At 29 weeks, it had slipped to the 4th centile. Tibia (leg bone) and fibula too, borderline short. The humerus (arm bone) held its ground. There were no bowing bones, no fractures, no rib cage abnormalities. The fetal medicine team reassured us that skeletal dysplasia was unlikely. Nevertheless, as a geneticist, I knew that comfort is not the same as certainty.

We proceeded with an amniocentesis at 29 weeks. I had counselled hundreds of couples for the same procedure. Now it was my counterpart and I sitting in the chair, filling out consent forms. Karyotype came back normal. CMA was normal. For a moment, we exhaled. But then came the WES report.

A de novo pathogenic variant in the CAPRIN1 gene. This gene has been linked with neurodevelopmental disorders, speech delay, autism, ADHD, and intellectual disability. Not a structural problem, not something ultrasound could ever capture. But a molecular shadow that could follow the child for life. The risk of neurodevelopmental involvement was high, the severity impossible to predict. Some children do fine with extra support. Others struggle deeply. It is the kind of uncertainty that bombards you at three in the morning, when you stare at the ceiling and wonder whether you have the audacity to gamble with a life you are responsible for.

We took the findings to our seniors in genetics and to the fetal medicine team. Every perspective was sought, every angle reviewed. The consensus was clear. This was a serious, non-lethal, but unpredictable condition. It was not skeletal dysplasia, it was not Down syndrome, it was something more sporadic. A variant that could shape a lifetime in ways we could not forecast.

At 32 weeks and 3 days, we made the decision no parent wants to make. We opted for medical termination. Watching my wife go through that ordeal was agonizing. Despite an epidural, the pain was immense. Labour came, and with it the grief of knowing we would not take our baby home. After delivery, she had postpartum hemorrhage, managed with skill by the obstetricians. Even in the best centers, even with ample precautions, the human body has its own language of risk.

And here is where my dilemma surfaced. As my wife screamed in pain, I lost the ability to think like a geneticist. I was no longer weighing penetrance and expressivity. I was thinking like a husband, like a father. I kept asking myself, was there a 10% chance our baby might have been less affected or even unaffected? Did I take the wrong call and make her endure all of this? I was the one who had explained the report to her, the one who discussed the findings with my seniors, the one who helped her reach the decision to terminate. In that moment, the logic I had built felt fragile against the weight of emotion. I even wished there were some ultrasound findings typical of this disorder, something visible, something concrete. This could have made my job easy to convince myself that the decision was inevitable. Instead, we were left with molecular certainty and emotional turmoil.

She is now recovering. The doctors, nurses, and anesthetists handled the situation with extraordinary care, and for that we are grateful. But no one can script the emotional aftermath. You walk out of the hospital with empty arms, but your heart is heavy with memories that never had the chance to become real.

This experience has made me pause as both a geneticist and a father. On the scientific side, I now appreciate with brutal clarity the value of trio-exome testing, the role of incidental findings, and the thin line between growth variation and true pathology. On the personal side, I realize how raw and powerless families feel when choices must be made. We often speak of “options” in counselling sessions, but in reality, every option has a cost that lingers long after the consultation is over.

For families reading this, the message is simple. Genetic testing is powerful, but not omnipotent. It can reveal truths that machines detect but our hearts struggle to process.

We will move forward. The recurrence risk is low. We will try again, armed with the audacity of science and the fragile hope of parenthood. But this baby, our baby, will remain part of our story. A reminder that genetics is not just about molecules and databases. It is about life, loss, and the choices that define us.