When you baby is about a week old your midwife will carry out a few other tests, the one that is most commonly spoken about is The Guthrie Test. These tests are carried out to test for rare genetic conditions.
The Guthrie test
This is a blood test that is done routinely towards the end of your baby’s first week. Your midwife will take a drop of blood from the baby’s heel by pricking it, which will be tested for a rare genetic condition called phenylketonuria.
This condition means that the body cannot process a particular substance in food, and as it accumulates it can lead to brain damage. It can be controlled by a special diet but it is important to pick it up early to prevent any damage occurring.
Poglycaemia
In some cases, especially if your baby is small or premature, you may be advised to have his blood sugar level tested in his first couple of days to make sure that he doesn’t have hypoglycaemia (low blood sugar), which can cause various problems, some of them serious. This usually involves testing a blood sample taken by pricking his heel.
Babies with hypoglycaemia need extra feeding, and if your baby has low blood sugar it may be recommended that you give him additional feeds.
Screening test for Cystic fibrosis
Blood spot screening for cystic fibrosis (CF) will be available to all newborn babies in England.
The heel prick blood spot test is taken by the midwife when the baby is around a week old. Samples are then sent to one of a network of laboratories across the country. Other conditions that are screened for using the same newborn sample are sickle cell disease, phenylketonuria (PKU) and congenital hypothyroidism (CHT).
Diagnosis by newborn screening means treatment can be started in the first few weeks of life and prevents the sometimes long period of stress and anxiety families suffer before the diagnosis is made, and guarantees that high quality treatment in a specialist centre is started as early as possible.
Find out about PGD (pre-implantation genetic Diagnosis) a complex test to identify embryos with genetic defects and chromosonal abnormalities to ensure only healthy ones are implanted in the womb. It can look for specific hereditary diseasese such as cystic fibrosis.
Read more about cystic fibrosis here
