by Dr. Hsien-Hsien Lei
Posted February 27, 2008 in DNA Podcasts and Videos, DNA Testing
I am now 26 weeks pregnant with my second baby and the second most popular question people ask me is: “Do you know if it’s a boy or girl?”* And, yes, we do know based on an ultrasound at week 22. Of course, the technician would say nothing more confirmatory except: “It appears to be a girl. I saw the McDonald’s sign. Three lines together looking like a hamburger.” (The following is not my own ultrasound.)
Fetal gender prediction is big business. Some parents, like us, just want to know so as to prepare for the new arrival. While others have strong cultural and personal preferences. Unless parents have availed themselves of sperm sorting or preimplantation genetic diagnosis, people previously relied on the following methods to figure out if their baby is a boy or girl (from Pregnancy & Childbirth at About.com):
Chorionic villus sampling (CVS)
Old wives tales
Chinese lunar calendars
Fetal heart rate
Belly size and shape
The latest and most controversial way of determining a baby’s sex is by analyzing the mother’s blood for fetal DNA. Two such tests are the Early Baby Gender Mentor and Pink or Blue Early Gender Test. A mother who’s pregnant with a boy is expected to have circulating amounts of Y-chromosome DNA. If no Y-chromosome bits are detected, then the baby is presumed to be a girl. But, of course, it’s not so straightforward.
Last summer, Karen Kaplan of the LA Times began gathering personal stories for a piece on gender DNA tests that was published this past weekend: Accuracy of gender test kits in question. The focus of the article is on sex determination but there’s also mention of quality control issues in the genetic testing market.
Marketing directly to consumers, the new crop of companies has jumped into a realm of dubious science, mining DNA to offer information on ethnic heritage, long-lost relatives, personalized dieting plans — even the sports for which one is best suited.
The tests are loosely based on legitimate scientific research, much of which has been funded by the National Institutes of Health, among others. But often, the companies’ claims of accuracy have not been backed up by independent laboratory analysis.
Thousands of consumers have bought tests — and analysts say the number will only grow as entrepreneurs find more ways to market the mysteries of the human genome.
The Federal Trade Commission, which protects consumers from false and misleading advertising, has warned buyers to be skeptical of at-home genetic tests, which are now unregulated.
In most cases, customers have no way of judging if their test results are accurate. But if a prenatal gender test is wrong, parents will surely find out.
Some consumers of genetic testing services, like Dr. Ann Turner, will test their DNA with more than one company, but most people rely on only one test from a company that may or may not have standards that indicate good business practices. We cannot rely on regulation from government bodies like the FDA even though they have been discussing what to do.
Here are my tips for choosing a reputable genetic testing company (also see my tips for how to prepare yourself for a genetic test):
The company should state specifically the genetic markers they are testing and the reasons for selecting those marker for the test.
The company should have a clearly stated standards page that demonstrates their commitment to quality.
- The company should say which labs are processing your DNA sample and indicate certifications, such as CLIA.
The company should have clearly stated contact info that includes mailing address, phone number, and emailing address.
The company should respond quickly to any queries you may have.
The company should have a good reputation which you can check online via search engines, such as Google.
While mistaken results from genetic genealogy testing may not affect life or death decisions, the same can’t be said for medical genetic testing or gender determination DNA testing. As William Saletan said in Slate:
Notice how the new transforms the old. What’s old is sex selection: choosing whether to abort your fetus based on whether it’s a boy or a girl. What’s new is the combination of ease, safety, and privacy with which you can now do this deed.
According to a UK Parliament publication (pdf), here are some of the reasons why a family may want to engage in sex selection.
There are several hundred known genetic diseases that affect only males â€“ e.g. haemophilia and Duchenneâ€™s muscular dystrophy.
Rebuild a family after the death of a child with another of the same sex
To fulfill a general preference for children of one sex over another because of economic, cultural or social reasons.
Whatever the reason for sex selection/preference, it seems that predictions are often inaccurate and babies are born every day who surprise their parents by being the opposite of what they’re “supposed to be.” I’m lucky enough to be happy with whatever our little one turns out to be. Sadly, that’s not the case for everyone.
Perfect world, just in time
Perfect babies, by design
Purge the ones that canâ€™t run
Judge the lives wonâ€™t be much fun
Labs getting patents, DNA owning
Remaking people, through human cloning
Used to love any kid that breathed
But now we donâ€™t want â€˜em unless theyâ€™re Ivy League
*The most popular is: “When are you due?”
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American Society of Human Genetics (ASHG) Statement on Direct-to-Consumer Genetic Testing...
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