It is a very rare disorder that might cause severe malformations 

• After three miscarriages, a couple of carriers of this disease, obtained a healthy baby.

 

CREA (Medical Centre for Assisted Reproduction in Valencia) and Sistemas Genómicos took a step forward in the fight against rare disorders transmission. Two parents carriers of Escobar Syndrome, a very rare disorder of 100 cases diagnosed all over the world, have obtained the birth of one healthy baby, not affected by this disease.  

Thanks to the DNA analysis of embryos obtained from the father’s sperm and the mother’s eggs, the baby is the first Spanish born free from Escobar syndrome, a disease that might cause severe malformations and, in serious cases, the death of the foetus. 

Indeed, the mother has suffered three miscarriages since 2011 after being alerted by consultants that the foetus had malformations on the neck, warning sign of some congenital disease. Although she didn’t know it, both her and her husband are carriers of a recessive genetic disease. Each one is carrier of a different mutation in the same gene. One of those mutations alone doesn’t provoke the disease, but if the baby inherits both mutations, one from each parent, he will suffer from the diseases. There was a 25% possibility that this happened in each pregnancy. Fate and genetic made it happen three times in a row. 

In 2014 the couple decided to turn to Sistemas Genómicos where Xavier Vendrell, Head of the Genetic Reproductive Unit, and Sonia Santillán, clinical geneticist, started to study the case. Testings performed detected two mutations in the CHRNG gene, responsible for Escobar Syndrome. 

The team has sequenced that specific gene of the father and the mother to know which mutation was carried by each one. This was something essential given that 50% of the eggs of mother are carriers of that mutation and the other 50% don’t. The mother was 38-years old at that time and her partner had a prostate inflammation that was affecting his sperm quality. That’s when they both decide to undergo a fertility treatment at CREA where the team led by the Clinic’s co-director, Dr. Carmen Calatayud, selected the father’s sperm with intact DNA to fertilize the mother’s eggs. In total, 14 embryos were obtained among which, only one resulted as healthy and it was transferred to the patient. “A normal couple, naturally, has a 25% chances of getting pregnant and of those 25%, a 30% loses the baby”, Dr. Calatayud explains, who met the baby when he was just a simple egg. The birth took place on 15th January and it meant a major milestone in science, genetics and in assisted reproduction in Spain.