Family planning

Since BHD syndrome is genetic, family planning is an extra consideration for those thinking about having children. If you or your partner has BHD, each child has a 50:50 chance of inheriting BHD too.

There are two options available for BHD patients who want to ensure their child does not inherit BHD: prenatal diagnosis (PND) which takes place during pregnancy, or pre-implantation genetic diagnosis (PGD) which is an IVF technique, so happens before pregnancy.

It is worth bearing in mind that BHD generally only affects adults, and is rarely life threatening if managed properly. The only BHD symptom seen during childhood is pneumothorax; five children aged between 7 and 18 have been reported to have had collapsed lungs. So far, the skin and kidney symptoms have not been seen in children and currently expert advice is to only start kidney screening at the age of 20.

Before you make any decision about prenatal diagnosis or pre-implantation diagnosis, we strongly suggest seeing a genetic counsellor for advice and to properly discuss the health and emotional implications of such a test.

Prenatal Diagnosis (PND)

It may be possible to test an unborn child to see if they have BHD. If you are researching this option, you may see it called prenatal testing or prenatal genetic diagnosis as well.

In most cases, the test can be done at 11-14 weeks into the pregnancy by chorionic villous sampling (CVS). Another alternative is amniocentesis, which in most cases is done at 15-20 weeks.

Prenatal diagnosis is not universally available and you should consult your doctor or genetic counsellor if you would like to locate a lab that does prenatal testing.

Pre-implantation Genetic Diagnosis

Pre-implantation genetic diagnosis (PDG) takes place after in vitro fertilization (IVF), and embryos are screened for a genetic mutation. Only embryos without the mutation are implanted into the mother.

Different countries have different legal positions on PGD, so you will need to discuss with your doctor whether this is an option for you.

Seeing a geneticist or a genetic counsellor before choosing PGD may be required and is certainly recommended.

We understand that the Genesis Genetics Institute has successfully conducted PGD for BHD syndrome in the US and the UK, and has facilities worldwide.

Do you have any outstanding questions or issues you’d like to discuss? Why not post on the BHD Syndrome Facebook Group for some advice?

Last Updated: May 2021
Review date: May 2024