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Patient Stories

Every woman is different and needs to understand the benefits, risks and limitations of genetic testing.

Here are two stories of women who decided to have genetic testing.

Gina

Amniocentesis/Amniotic Fluid Testing

Gina’s ultrasound showed that the baby’s kidneys were dilated, which might indicate a chromosome problem. Additionally, Gina’s husband had a family history of chromosome abnormalities. Therefore, her doctor recommended that Gina have an amniocentesis. “My husband and I were scared of having a sick baby; a baby with kidney problems…” Read more about Gina’s story.

Leah

Chorionic Villi Sampling (CVS)

Leah’s second child was born with myotubular myopathy, an inherited disorder with various abnormalities in muscle development and muscle tone. With their fourth child, whether Leah and her husband were having a boy or a girl was the big issue. A girl could be a carrier, but she wouldn’t have the disease. To find this out, both her son’s geneticist and her OB/GYN suggested CVS. “In my other pregnancies, I had no idea about CVS.” This test can provide results by 12 weeks. Read more about Leah’s story.