Prenatal Detection and Diagnosis

 

There are tests available to pregnant women, which can be used to detect Spina Bifida before a baby is born.  Maternal serum alpha fetoprotein (MSAFP) blood test can be done on the mother’s blood around the 16th week of pregnancy.  However, most cases of Spina Bifida are detected by ultrasound scan at 18-20 weeks during an anatomy scan and this blood test is not often used.  It should be stressed that blood test results are not 100% accurate.  As a parent you have the choice whether to participate in any antenatal screening programme.

 

So what happens when a diagnosis of Spina Bifida is made antenatally?

You will be referred to the Maternal Fetal Medicine Unit at your nearest major hospital for a review and discussion of the findings and a detailed discussion about possible outcomes.

Although in the majority of cases Spina Bifida is an isolated birth defect, it may be associated with other conditions.  Usually ultrasound has already detected other abnormalities in these cases.  Genetic counselling and further genetic testing, such as amniocentesis, may be offered.  If your baby is diagnosed with any other condition in addition to Spina Bifida, your Specialist will discuss this with you.  Most cases are not offered amniocentesis.  You will be offered a range of options and support for managing your pregnancy.