My Wife and I Have Been Offered a New Prototype DNA Test for Our Pregnancy

Doctors here in Northern Virginia offered to give us a prototype DNA test for my wife's pregnancy (10 weeks into the pregnancy). This is a brand new technology that detects chromosome issues such as Down's Syndrome and Edwards/Trisomy 18. Currently tests such as amniocentesis and the CVS test are used to detect these issues. Our OBGYN says this new test may replace those older tests within 5 years or so. Because they are invasive, amnio and cvs carry some risk of miscarriage. This new test analyzes fetal DNA in the mother's blood and therefore is virtually risk free.

We used IVF (In vitro fertilisationin order to get pregnant. I have an incredibly bizarre mild form of cystic fibrosis. Normally people with CF die before reaching adulthood. I'm 40. Johns Hopkins is still scratching their heads. As my wife always suspected, I'm a mutant. CF in mild cases causes males to not develop the vasa deferentia tubes that deliver sperm, so I essentially had a natural vasectomy. My wife does not have CF, and isn't a carrier, so there's no increased chance of our child having it. Also, it looks like they are closing in on a cure. The doctors had to extract sperm from my testicles using a needle (called a testicular aspiration). Men out there, I can tell you - needles in the balls is not a fun thing at all. After being extracted, the sperm was then cryogenically frozen (ala Han Solo :^) ).  The fertility doctors also gave us the option to cryogenically freeze embryos. I expressed concern over potential birth defects because of this and was surprised to learn that cryogenically frozen embryos tend to have *LESS* of a chance of birth defects. I hypothesized that maybe only the stronger survive the freezing process. Researched this and indeed this appears to be the likely reason.

All of this genetic testing has me thinking about various science fiction, e.g. Gattaca lately, whether in the near future it will be used for "designer babies". I used to have this "let nature do what nature's going to do" way of thinking in regards to genetic engineering. Lately, I'm not so sure. Is it so much to ask to want a healthy child?

My previous post about genetic testing, etc.


  1. Congratulations! I hope things test okay. I appreciate knowing about this because I am 41 and thought I was too old to have kids but maybe if this turns out to be an option for me someday, I'd definitely want state of the art testing. -H

  2. Thanks H. BTW At age 40 for females the chances for birth defects is about 1 in 100. I think at age 45 it goes up to 1 in 30. There are charts around the Internet at reliable sources. Not sure if you'll get this reply.