American researchers identify “urgent global opportunities to prevent birth defects.” Guess what is included in the list of birth defects to be prevented (and how)?
Vijaya Kancherla, Godfrey Oakley, Jr., and Robert L. Brent published their survey of birth defects prevention methods and the opportunities to apply them globally. Why? Because:
Birth defects are one of the leading causes of infant mortality in the world … . Their impact is immeasurable, having life-long health and economic implications for the affected individual, the family , and society.
This is regrettable, in the authors’ estimation, because
As with polio and smallpox, many birth defects are preventable and can be completely eliminated by timely primary prevention.
What birth defects are the authors talking about and how can they be prevented? We’ll count them down until we get to one that doesn’t seem to be prevented in the same way as the others.
Congenital rubella syndrome
For pregnancies infected with rubella, the child can “suffer with cataracts, hearing loss, congenital heart defects, and both physical and mental retardation.” How can this condition be prevented: through simple vaccination. So, fine–clearly a condition that can be prevented through immunization programs of young girls.
Folic acid-preventable spina bifida and anencephaly
Almost 250,000 cases of folic acid-preventable spina bifida and anencephaly occur each year. The way to prevent this condition is in its very name: through folic acid supplementation. How is this done? Through folic acid fortification of centrally processed food. Again, nothing controversial here (aside from those concerned with vaccinations for rubella and those concerned with modifying food).
Fetal alcohol syndrome
Sure. Of course this should and can be prevented. Fetal alcohol syndrome (FAS) can cause lifelong disability with no cure and it can be prevented by the pregnant mom avoiding alcohol during pregnancy. So, the prevention method is public education and counseling for pregnant mothers struggling with alcohol abuse. Something I would expect no one would object to.
Maternal age and Down syndrome
Wait a tick. How is this condition to be prevented?
The authors note that Down syndrome births are on the rise in lower and middle income countries of the developing world. This is due, primarily, to more mothers having more children later in life, since maternal age is associated with the chance for having a child with Down syndrome. As the authors put it:
Despite improved knowledge and screening, about 5400 births in the USA are affected with Down syndrome each year.
Telling, that “despite,” isn’t it?
What are the prevention methods the authors recommend?
Both individual and societal changes that encourage lowering the age of conception among women will serve as the single most cost-efficient and effective intervention to prevent Down syndrome in future births.
Again, not that controversial, beyond advocating a cultural change to discourage women from having children later in life.
But, then we get to the second:
Implementation of universal screening and counseling (both pre and post conception) is urgently required in middle- and low-income countries. Improving organizational and cultural factors to reduce variation in prenatal screening will better contribute towards Down syndrome prevention in several countries.
You have to read up a bit further in the section on preventing Down syndrome, though, to learn precisely how “universal screening and counseling” will “better contribute towards Down syndrome prevention”:
A large majority of prenatally diagnosed Down syndrome cases (~90%) are medically terminated.
The remaining conditions identified, and their prevention, are:
Rhesus hemolytic disease–“urgent need for prenatal screening for RhD antigens, & access to immune prophylaxis”
Maternal diabetes–periodic screening and management along with fostering healthier lifestyles
Valporic acid (associated with spin bifida)–eliminate valporic acid prescriptions among women of childbearing age
Iodine deficiency–salt iodization
Close to nil
The authors conclude calling on all medical professionals and public health practitioners in the field of birth defects to
[I]ntensify prevention efforts, and undertake comprehensive and integrated efforts to accelerate the pace of prevention at a global scale for preventable birth defects. … Only then can we achieve our goal of bringing current rates of major preventable birth defects close to nil.
So, let’s recap: there are a defined list of conditions identified by the authors that are ripe for being prevented. For all but Down syndrome, the measures of prevention consist of vaccination, folic acid supplementation, stop drinking alcohol, screening for RH incompatibility and maternal diabetes and treating those during a pregnancy, eliminating valporic acid prescriptions for expectant mothers, and iodizing salt–all measures that actually contribute to the health of the mother.
And, how to prevent Down syndrome? Discourage older women from getting pregnant, and if any woman is pregnant, then have prenatal testing and abort the pregnancy.
Anyone have a problem with this?
Note: the graphic featuring the company “Prevention Genetics” is shared as its name & tagline echo the recommendations of the study’s authors. The study’s authors are not connected with Prevention Genetics. The corresponding author listed on study is Godfrey Oakley at firstname.lastname@example.org.