“You tested positive for Klinefelter Syndrome, therefore you’re expecting a boy,” stated the genetic counselor, sitting across from me with a large binder of what appeared to have an image of a chromosomal sequence with the words “47 XXY” splashed across the cover. This appointment was supposed to represent a day of joy upon discovering the sex of our baby and instead, I became paralyzed with a flood of emotions—fear, confusion, skepticism, and sadness as I digested this new and unexpected information. This certainly wasn’t my idea of fun gender reveal. My biggest question was “now what?”
I’ve created the below Klinefelter prenatal testing guide for expectant mothers (and fathers, of course) to help guide your next steps after undergoing genetic testing in the first trimester of pregnancy. Pregnancy is already a difficult journey, but adding additional tests and uncertainties surrounding a potential genetic condition with your unborn child can be unnerving. I hope this guide helps bring clarity and direction, while offering hope. No matter which outcome or route taken, my best advice is to enjoy your pregnancy, embrace parenthood, and love your child.
*The below diagram “Klinefelter prenatal testing guide” is based on my own experience and the content in not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you have regarding Klinefelter Syndrome.
If only we were talking apples oranges. In these stories we always seem to have these young, supportive and investigative parents. My mother was older with two other children, eight and twelve and another surprize baby on the way. It was 1952 and I’m not even sure if “Since amniotic fluid is primarily made up of fetal urine, low amniotic fluid volume, or oligohydramnios, typically indicates either fetal urine output or leakage of amniotic fluid from the uterus, such as when the patient’s water breaks”. My mother had rheumatoid arthritis. “XXY”‘s seem to be high in autoimmune disorders. My father was again in the sanitorium, The only treatment for TB at the time. It wasn’t just booms that killed our boys in WW-2. My oldest sister got “Type 1- Diabetes” when she was 14, just more troubles for that troublesome age, for girls in particular. The middle child had Crohn’s “which we didn’t know at the time and of course I had XXY, KS, which I wasn’t aware of until I was around 19 years old and had my first girlfriend and the problems that became obvious at the time. I think I had every peak and trough that is a hallmark of XXY. Life has been quite the challenge, that looking back, if only I’d had a parent like you supporting me, what heights could I have reached.