From uncertainty to awareness: making sense of genetic screening

Exploring prenatal testing for genetic risks 

Margot and Gerard’s first child, Joseph, was born healthy. However, as time passed, Joseph began to show developmental delay, missing the usual milestones. When he was 7 months old, he was diagnosed with Williams Syndrome, a rare genetic microdeletion of genes on chromosome 7, affecting for instance intellectual and psychomotor development.

The couple knew that the risk of having a second child with the same syndrome was very low, but they became more conscious of the numerous other hereditary conditions that could affect a baby. It was important for them to ensure that they received a complete prenatal screening for their second pregnancy.

Navigating pregnancy with informed choices

Initially, they struggled to find local professional guidance. Through a friend, they learned about SYNLAB Porto and scheduled an appointment with Dr Margarida Reis-Lima to discuss the many options available to them. With Dr Reis-Lima’s assistance, Margot and Gerard were able to navigate, understand, and choose between various tests and the optimal times to take them. Ultimately, the couple decided to undergo carrier screening before pregnancy, to identify any risk of severe recessive genetic disease. Once they were successfully pregnant, they also performed a choriocentesis with Comparative Genomics Hybridization Array (aCGH), to exclude possible chromosomal anomalies (including Williams syndrome) in the baby.

Margot, Gerard and Joseph have now happily welcomed a healthy daughter, Mary, to their family. The parents are grateful for the support and clarity provided by the Genetics team, which allowed them to fully understand their options and make informed decisions at their own pace. 
 

With special thanks to Margot, Gerard and Joseph, and also to Dr Margarida Reis-Lima, Clinical Director of SYNLABHEALTH Genética Médica, Porto.