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FAQ - Pregnancy and childbirth

This is a collection of questions that usually arise in the content of pregnancy and EB. We hope this information will help you understand the possibilities of having a baby when you have EB and of options to get tested. It should also bring some light into the darkness regarding complex matters of genetics and the probability of passing on EB to your baby.

Can I have a baby?

Many young adults with the severer forms of EB are unaware that it is a possibility for them to have children. We know a number of women with both dystrophic and non-Herlitz junctional EB who have given birth to healthy children and who have gone on to raise them successfully. In addition we also know of men affected by both dystrophic and non-Herlitz JEB who have fathered children and have participated in childrearing.

Will my baby have EB?

In order to be able to give you information about the chances of your baby inheriting EB it is important that you have a firm diagnosis with clear information on the way your EB has been inherited. If you are unsure about this you should make an appointment to see your dermatologist or EB specialist in order to clarify this information or to have the necessary tests done.
You may also find it useful to read 'The Genetics of EB' by Professor Irwin McLean. This is available from the DEBRA UK office.

If you have recessively inherited dystrophic EB (RDEB)

There is usually no family history of EB in this situation, and both of your parents will be 'healthy carriers' of the genetic mistakes leading to RDEB. There is only a very remote possibility that your baby will inherit EB. One article on the subject refers to the risk as being negligiblere. This is because we all inherit one gene for each of our characteristics, e.g. hair colour, eye colour and skin structure from each of our parents. In a recessive condition both copies of the gene have to be defective in order for the person to have the disorder. This means that although you can only pass down a gene for skin structure that is affected by EB, your partner would also have to pass down a gene carrying the mutation for EB in order for your baby to be affected. It is thought that the carrier rate for recessive dystrophic EB in the general population is about 1:350. This gives an overall risk of 1:700 of your having a child with EB. In genetic terms, this is thought to be a very minimal risk indeed. We do however appreciate that this is a very real concern for many prospective parents, given that for anyone to be affected by EB is the result of a very rare chance phenomenon.

If you have recessively inherited non-Herlitz Junctional EB

The situation is as described above for RDEB, however the carrier rates for JEB in the general population are estimated to be about 1:300, therefore your chances of having a child affected by EB are about 1:600.
It must be noted that if your partner is a close relative, e.g. a cousin, or has a family history of EB, you should seek expert advice before embarking on a pregnancy as the risks of having a child with EB are greatly increased.

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Can my partner be tested to see if he/she is a carrier?

Unfortunately the present state of the science does not allow for carrier testing in RDEB. This is because the genetic mutations responsible for causing RDEB are to be found on the gene encoding for a protein called collagen VII.
Collagen VII is a crucial component of anchoring fibrils, which hold the epidermis to the underlying dermis. The gene encoding for collagen VII (carrying the genetic instructions) is one of the largest genes we know of and the mutations (or mistakes) that cause RDEB can be found in numerous sites on this gene.
Therefore, although we will be able to find your mutation and tell you if your partner carries this or not, we will not be able to tell you that they do not carry another mutation that can also cause RDEB. To search the entire collagen VII gene is a hugely difficult task and can be thought of as akin to 'looking for the proverbial needle in the haystack' without actually knowing what the needle looks like.
However you may be comforted by the fact that we know of a number of children who have been born completely healthy where one parent has recessively inherited EB. The situation is very similar in non-Herlitz JEB, and as a general rule, carrier testing is not offered.

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Can my baby be tested prenatally?

Prenatal testing when one partner has a recessively inherited form of EB

Prenatal testing of the foetus is not offered in this situation. This is because the risks of having an affected child are so small - 1:700 for RDEB and 1: 600 (approx) for Non-Herlitz JEB. The other issue to consider is that even in the most skilled hands it is still possible to provoke a miscarriage when carrying out prenatal testing. The chances of provoking the miscarriage of a perfectly healthy foetus outweigh the risks of having a child with EB. The rate of excess miscarriage (i.e. a rate above what would normally be expected) in chorionic villus sampling (taking a small piece of the early placenta) is about 3% and therefore far exceeds the risk of having a child with EB. Most doctors therefore consider it is unethical to offer this procedure in this situation.

Prenatal testing when one partner has a dominantly inherited form of EB

Dominantly inherited forms are dominant dystrophic EB (DDEB) and EB Simplex (EBS). In this situation you will normally be aware of a strong family history of EB with one of your parents having the condition.
There is no carrier status in a dominant condition and the chances of your having a child with EB are 1:2 with each pregnancy. Very occasionally an individual will be born with DDEB where there is no family history and both parents are unaffected; this is known as a de-novo mutation, i.e. you have developed a new dominant mutation all of your own. In this rare situation you will have again a 1:2 chance of passing DDEB to each of your children. On the whole, dominantly inherited forms of EB are milder than the recessively inherited forms of the condition.
Only if you or your partner has EBS Dowling-Meara EB (EBS-DM), you will be offered prenatal testing. This is because babies born with EBS-DM can often be very severely affected at birth and in the early years. In other forms of dominantly inherited EB, prenatal diagnosis is not offered. This is because it is felt that the dominant forms of EB, whilst troublesome and distressing for some people, are in fact too mild to warrant prenatal diagnosis and potential termination of any affected foetus. In addition one also has to consider the potential loss of a healthy foetus incurred following prenatal testing. The rate of miscarriage attributed to prenatal testing is thought to be about 3%.

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What is pre-implantation diagnosis?

Pre-implantation diagnosis is being offered in some centres in order to detect an embryo affected by a genetic disorder. In order to carry out the test the mother's eggs are fertilised outside the body and one cell is taken from each developing embryo to ascertain which are affected. A small number of unaffected embryos are then placed in the mother’s womb. In some centres this test is used in situations where a severe recessively inherited form of EB is a likely outcome of any pregnancy, and where the family have had a previously affected child. This test is particularly indicated for couples where termination of pregnancy will not, for whatever reason be countenanced.
However, this is not an easy option as the technique is akin to IVF and as such it is not easy to establish a pregnancy.
It should be carefully noted that one form of EB cannot become another form, as the genetic mutations causing each form of EB are different. It is also usually the case that a child affected with a dominant form of EB will be affected in a similar way to his or her affected parent.
For further advice it is best to contact an EB centre or medical specialist in your country (see EB-CLINET). Practices regarding prenatal diagnosis do vary from country to country.

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