prenatal-testingAt AXYS, we consider providing information and support to parents who receive a prenatal diagnosis of an extra X and/or Y chromosome in their fetus to be one of our most important tasks. Our Help Line volunteers and support parents give priority to providing information to expectant parents.

It is important for parents to understand the nature of individual tests. A non-invasive prenatal blood test on the mother can only suggest a risk that the fetus has an extra X or Y chromosome. It is not a diagnosis. Parents should follow up such a test result by consulting with a genetic counselor who can help interpret the results and discuss options.

On the other hand, amniocentesis (a needle inserted into the uterus to draw out fluid-containing cells surrounding the fetus) and chorionic villus sampling (CVS, in which a small sample of the developing placenta is taken) can both show whether extra chromosomes are for certain present, and can serve as a definitive diagnosis.

Whatever result you may find from prenatal testing, it is always worthwhile to consult a genetic counselor. Call or e-mail us at 888-999-9428 or info@genetic.org for information on and referral possibilities for counselors in your area. You can also contact us to speak with an AXYS volunteer who has a child with a similar genetic profile.

Children with sex chromosome aneuploidy are unlikely to have severe developmental disabilities. These genetic conditions tend to involve speech delay or learning disability, not profound delays that prevent independent living. Many families find that early intervention and special education services minimize the impact of the extra chromosome.

AXYS is pleased to provide you with the following letter written by a parent of a child with Klinefelter syndrome, but relevant to all parents of a child with an x or y variation:

I am writing this letter to parents who have received a prenatal diagnosis of sex chromosome aneuploidy (SCA), one or more extra X and/or Y chromosomes.  First, I want to tell you that I have been in your shoes, having learned at 18 weeks pregnancy that I was carrying a boy with an extra X chromosome… Read entire letter

Prenatal Genetic Testing: Making an Informed Decision