In one case out of 25, even in advanced Western countries, a baby is born with a physical or chemical defect that may doom him to an early death or a lifetime of illness. Until a few years ago it was assumed that little or nothing could be done about most of these misfortunes. Then, in 1958, the National Foundation-March of Dimes, having conquered polio, turned its attention and resources to the problem of birth defects. Last week in The Hague, at the Foundation's third birth defects conference of the decade, 975 scientists from 35 countries listened to 194 progress reports and some clarion calls for a more massive offensive.
The conference provided fresh evidence of a radical shift in medical emphasis from treatment of adult ills to the health of the child, the infant and even the embryo. But medical researchers do not intend to stop even there. They are also considering the health of the mother at the time of conception, the health of both parents before conception, and even the health of the mother's mother at the time she conceived.
Broad Categories. As honorary president of The Hague meeting, March of Dimes' President Basil O'Connor acclaimed "the beginnings of achievement in a worldwide, concerted effort of sciencethe first in historyto improve the quality of human life at birth." But he went on to warn: "This means that you must also be prepared to protect the human heritage from a possible proliferation of defective genes. It is humane to save the lives of sick children. It is neither humane nor morally defensible to permit the cause of their illness to be perpetuated if that can be prevented."
The term congenital malformations covers all three broad categories of defects present at birth:
> Inherited. Something goes wrong either in one or more of the genes themselves, or in the chromosome packages in which the genes are arranged.
> Accidental. At the time of conception or shortly thereafter, cell division goes awry, causing such conditions as abnormal twins.
>Environmental. There are unfavorable factors in the embryo's uterine surroundingssome nutritional deficiency in the mother, drugs in her bloodstream crossing the placental barrier, or viruses infecting both mother and fetus.
Mongolism, or Down's syndrome, probably the most common major congenital malformation, occurs once in every 600 births and can be caused by either inherited or environmental factors. Both severe heart defects, next in frequency with an incidence of one in 700, and cleft palate, one in 800, can result from any of the factors.
That geneticists still have much to learn was shown by the disagreement over the importance and effects of an extra Y chromosome in males. Jerome Lejeune held fast to his controversial contention that this chromosomal aberration is closely associated with criminality. Delinquency, he said, is 20 times as common among men with XYY defects as among those with normal chromosome endowment.
