CHARGE and the next pregnancy

[Guest guest]

For those of you asking about next pregnancies and CHARGE…

You've already gotten lots of really good information from the

wonderful families on the list. I'll try to add a bit. In addition,

if you have questions you would prefer to discuss off list, feel free

to contact me (meg@...) directly. And just so you

know, besides CHARGE, what I do at my job is prenatal genetic

counseling, so I deal with these issues every day.

As you know, the recurrence risk for CHARGE is about 1-2%. This is

based on experience – many, many years ago I collected data on

families by surveying everyone on the CHARGE mailing list (this was

pre-listserv!) as well as every genetic counseling center in the

country. Since then, others have kept track informally, and we agree

that the risk is no higher than 1-2%. That chance also fits perfectly

with CHARGE being caused by a new mutation in a single gene. The

overwhelming majority of kids with CHARGE are the first one in the

family with the gene. In a small number of families, a parent also

has CHARGE (and carries the gene). And in a small number of families,

one of the parents has additional eggs or sperm with the mutation.

When that happens, it is called " gonadal mosaicism. " In other words,

some of the gonads (eggs or sperm) carry the mutation and others

don't, making a " mosaic. " In families with more than one child with

CHARGE, the chance for CHARGE happening a third time could be very high.

Can we look for CHARGE prenatally? If a CHD7 mutation has been

identified in the child with CHARGE, prenatal diagnosis by testing DNA

from CVS or amniocentesis is possible. If the fetus has the CHD7

mutation, it tells us the baby will have CHARGE. It does NOT tell us

which features the child will have. In families with more than one

child with CHARGE, the features of the two children can be quite

different, even covering the whole range of CHARGE.

The other thing that can give you information prenatally is ultrasound

(US). US can look for some of the structural features of CHARGE, like

heart defects, cleft lip, and kidney abnormalities. Indirectly, US

can give information about some other things. Excess amniotic fluid

can be present if there is choanal atresia or esophageal atresia, for

example. 3D US can be used to look at the ears. Not all children

with CHARGE have unusual ears, but if they do, it might be detectable

by US. Many of the US features of CHARGE would not be detectable

until 20-24 weeks of pregnancy.

Everyone with a child with CHARGE (or any other issue, for that

matter) worries about problems (CHARGE and others) during another

pregnancy. That is normal. It does not mean you reject the child you

have or that you know what you would do if you knew you had another

child with issues. Everyone simply tries to do the best they can

given their own personal situation. I see this every day at work. My

job as a genetic counselor is to help families understand their

options so they can make the decisions that are best for them. I hope

you guys have good experiences with the people you see during your

pregnancies.

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO

meg@...

[Guest guest]

Meg,

I see you answered this. It is remarkable that you are able to do this for

the parents. A true blessing.

Bonnie, Mom to Kris 24, Patty CHARGE 22, and wife to

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