Sequanon’s Test for Down Syndrome Raises Hopes and Questions

While the test may reduce the need for riskier invasive procedures such as amniocentesis, it also raises ethical issues.

Prohost Biotech submits: When Sequenom (SQNM) was welcoming analysts and shareholders who are “interested in discussing the results for the first quarter of 2011,” the firm’s CEO was quite aware that most attendees were, in fact, much more interested in the progress of the firm’s plans for the non-invasive prenatal tests, especially the Down Syndrome test.

DNA in a pregnant woman's blood can reliably show whether her foetus has Down's syndrome, thus hugely reducing the need for invasive test procedures such as amniocentesis, research published on Tuesday said.Down's syndrome, a major developmental disorder also called trisomy 21, occurs in around one in every 800 live births.Pre-natal diagnosis mainly entails sampling fluid, drawn by a needle, from the amniotic sac enveloping the foetus. Another technique is called chorionic villus sampling, and entails taking a sample of placenta.

A test designed to spot chromosome abnormalities in eggs could be a "revolution" in fertility, helping older women determine their chances of having an IVF baby, doctors said on Monday.But in developing the test, they added, worrying evidence emerged that in-vitro fertilisation (IVF) may boost the risk of a baby with Down's syndrome.

A less risky non-invasive procedure based on maternal DNA to diagnose Down's syndrome could be generally available to pregnant women by 2013, a Cyprus researcher said Tuesday."Down's Syndrome, or Trisomy 21, is the most common cause of mental retardation with an incidence of one in 600 births," Philippos Patsalis of the Institute of Neurology and Genetics in Nicosia told reporters."This method can apply to all pregnancies not only those at risk," he added, describing it as "one of the most important milestones in the history of the institute."

Yves here. NC guest writer Doug Smith also dug into these issues in his book Of Value and Values.

Advocates are concerned that a non-invasive test to determine if a fetus has Down syndrome will lead to more pregnancies being terminated.

Bryan offers the most extensive version of his view I've seen him blog.  On overall method and meta-ethics, I'm not so far from Bryan (and someday he will get a post in praise of him).  But I usually disagree with his applications of the method.  For instance he seems to argue that because employees are allowed to discriminate against employers, we should allow for a reciprocal right of employer discrimination.