Recent advances in the development of large-scale genomic sequencing now allow its application in neonatal genetic screening. This means that, from the moment of birth, it is possible to detect the risk of developing genetic diseases, thanks to the identification of variants in the DNA of the newborn associated with monogenic diseases. What is newborn […]

Cystic fibrosis (CF) is the most common severe recessive genetic disease in the Caucasian population, affecting about 1 in 4,500 people. The reason it is so prevalent is that one in 25 people is an asymptomatic carrier of the disease; this carrier rate is very high indeed. CF affects several organs of the body, so […]

Newborn screening is one of the first tests performed on a newborn baby to detect whether he or she has certain health problems that may require specific care. The first test performed on a newborn, before newborn screening, is the Apgar test. It is carried out just one minute after the baby is born, and […]

Congenital heart disease is the most common malformation at birth, but what role do genetics play? Are all cases the same? In this blog we will explain congenital heart disease, its causes and detection methods. What are congenital heart diseases? Congenital heart disease (CHD) is defined as any malformation in the structure of the heart […]

Rare diseases are more common than we can imagine and a large number of people are affected by this type of diseases globally. In this article, we explain some common characteristics of this type of diseases and the importance of diagnosing them appropriately. What are rare diseases?   Rare diseases can be defined as those […]

Did you know that the probability of having a boy or a girl is determined by genetics? After all, foetal sex depends on whether the sperm cell carries an X or Y sex chromosome. Do you want to know why? It’s all in this article, where we also talk to you about the new methods for […]

Pregnancy is a period full of excitement and also doctors’ visits. It’s important to ensure there are no health complications for both mother and unborn child. There are different routine tests and check-ups for pregnant women to make sure everything is going well. However, thanks to advances in technology and science, it is possible to […]