Antenatal and Prenatal care for couples at risk of having a child with a major haemoglobin disorder

What are the risks of having a child with a haemoglobin disorder?

Most haemoglobin disorders are recessive, that is that the carrier parents are by all intents healthy and may be unaware they are carriers, but by having a child together have a 1:4 chance of having a child with a major haemoglobin disorder e.g. sickle cell disease or thalassaemia.

What can be offered to carrier parents in the prenatal and antenatal period?

It is entirely possible to identify people pre-pregnancy with highly specialised blood tests, counsel them as to the risk and then offer pre-implantation genetic diagnosis where it is wanted. Pre-implantation is a method of testing the very earliest stage of a pregnancy in a laboratory prior to healthy unaffected embryo being inserted into the women. It is also possible to match this embryo as a stem cell/ bone marrow match for an affected existing child and collect cord at delivery for a potential future bone marrow transplant. For families who do not want to go down that path it is possible to test pregnancies in the antenatal period from just over 10 weeks of pregnancy with a result given within the week. By working closely with dedicated obstetricians and fertility experts Dr Trompeter can lead you through these difficult and challenging choices.

Wellington Hospital Harley Street Hospital