Prenatal Genetic Testing

Reasons for undertaking Prenatal Genetic Testing

There are multiple circumstances in which genetic testing in pregnancy is clinically warranted, for example, 

  1. There is a known family genetic condition

  2. There were other modalities of evaluating the pregnancy, such as ultrasound scans, that indicated a possible abnormality

  3. There is a history of birth defect or stillbirth. 

Each patient’s circumstances differ and the focus of appropriate genetic testing needs to be tailored to reflect the individual circumstance.

Our expertise

Our clinic has for over 20 years provided Clinical Genetic support to Obstetric and Fetal Medicine colleagues in their management of patients requiring such personalized and individual care during pregnancy.

How we work

0ur Prenatal Genetic Testing involves the following interactions, assessments and research,

  1. close interaction with other Specialists, 

  2. assessment of genetic analyses undertaken by others with less expertise in genetic analysis, 

  3. refinement of other investigations which might benefit the patient and

  4. detailed discussion of the findings of the tests and their meaning for the patient and the pregnancy.

The focus when patients come to us is often on the procedure they have had i.e. 

  • CVS (chorionic Villous Sample), 

  • Amniocentesis (cells taken from the fluid around the baby) or 

  • Cordocentesis (sample of fetal blood from the umbilical cord blood vessels). 

It is important to know that the above are different ways of harvesting a sample. However the value and expertise that we bring is

  1. the genetic analysis of that sample, and 

  2. the appropriate discussions which should attend such specialist genetic tests.

For any prenatal predictive test we look at establishing our focus will be on;

  1. careful counselling as to the scope of the available options

  2. the suitability of individual approaches to analysis for a particular genetic problem

  3. the likelihood of a successful diagnosis and any attendant risks

We treat each case as unique that requires a bespoke solution.

NIPD (non invasive genetic diagnosis)

Latterly we have been offering NIPD (non invasive genetic diagnosis) on free fetal DNA in Mother’s blood) for some, carefully selected disorders working closely with colleagues internationally who have pioneered this development.