I’m pregnant and have genetics questions

Looking for answers? We can help.

Medical care during pregnancy often includes screening for genetic conditions. We take special care at AXYS to provide scientific information and unbiased support. We hope you will find the resources and links on these pages helpful, while also feeling free to contact us directly for additional assistance.

If you had a genetic test that indicates one of the following conditions, click the link for more information.

47,XXY

Frequently Asked Questions

Can a prenatal test tell me whether my child will have an X or Y chromosome variation?

It depends on the test. A non-invasive prenatal blood test can suggest only that your fetus is at risk, but is not a diagnosis. But two other invasive tests—amniocentesis and chorionic villus sampling (CVS), serve as a definitive diagnosis. Click here for more information on prenatal testing.

What is the role of a genetic counselor when I've been told I may have a baby with an X or Y variation?

Genetic counselors receive a great deal of training on various genetic conditions and can be of tremendous assistance when discussing the implications of various tests. They can be particularly valuable after you’ve had a blood test indicating your fetus may be at risk for a genetic condition. AXYS maintains a list of qualified genetic counselors across the country, and can assist you in making contact with them.

Will a child born with an X or Y variation look any different than children with 46 chromosomes?

Generally, children born with an extra X or Y chromosome do not have any obvious physical differences, which is why so few children are diagnosed soon after birth. In children with two or more extra X or Y chromosomes, there may be more pronounced physical signs. Consult the links above for the specific condition of your child for more information.

What should I tell relatives, friends and others about my baby having an X or Y chromosome condition?

These conditions are common enough that they need not be revealed as something disturbing. Every person is different, and an X or Y variation is just one more way human beings are shown to be unique. However, before disclosing a diagnosis to relatives such as grandparents, siblings and others, it may pay to be patient. You may wish to consult with a genetic counselor or trusted, informed advisor about what to say and when to say it. It is reasonable to wait with a prenatal diagnosis until your child shows some symptoms associated with the condition, such as developmental delay or learning difficulty. It is well-known that such delays vary greatly with the different conditions and among different individuals. For a more extensive discussion on this matter extending further into your child’s life, scroll to the bottom of this site’s Frequently Asked Questions page.

More Information

Variations

Candace’s Story

“My little guy is 3 and has been a beautiful addition to our family. He has the sweetest most loving personality. He seems to be progressing well in all areas, with the exception of expressive speech, which is very delayed. I think with the right therapies in place and a willingness to learn, parents need not fear an extra X or Y chromosome diagnosis. It’s all in what you make of it.”

Candace