The pregnant promise of fetal medicine

As prenatal diagnosis and treatment advance, we are entering difficult ethical territory

HAVING children is still a risky business, even in the west. Around 1 in 25 babies is born with a genetic disorder, and up to a quarter of infant deaths are caused by genetic diseases. The burden of suffering and trauma is immense.

But fetal medicine is advancing. Within 10 years we can expect fetal genome sequencing to be routine, which will improve diagnosis enormously. Options for treating diseases while a child is still in the womb are also set for rapid expansion (see "Fetal healing: Curing congenital diseases in the womb").

Given the option, most parents would probably prefer to know in advance if their child will be among the 1 in 25. But this knowledge will not necessarily end the suffering. If fetal sequencing becomes routine, diagnosis is likely to run ahead of treatment, with many more genetic defects being detectable than can be treated.

To put it in perspective, a recent study found that the average person carries around 400 potentially damaging DNA variants and that 1 in 10 people is at high risk of developing a genetic disease as a consequence (American Journal of Human Genetics, vol 91, p 1022).

That suggests prospective parents who choose fetal sequencing will be faced with a bewildering range of diagnoses, prognoses and treatment options, often for non-life-threatening conditions or ones that will only manifest later in their child's life. We may find ourselves hankering for a simpler time when only the most serious genetic disorders were diagnosable early on.

An even more difficult collective decision is looming: do we want to intervene in human evolution? The technology for genetically repairing the germ line - the fetal cells that go on to form sperm and eggs - is in development. That raises the prospect of being able to cure genetic diseases not just in one's own children, but in their children, and so on.

At present that is considered ethically unacceptable. But germ-line engineering could rid us of conditions such as cystic fibrosis and muscular dystrophy. If the technology is there, surely the unethical option would be not using it? These are decisions for the future, but we need to start thinking about them now.

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