Birth defects (anomalies) affect three to five percent of all children at the time of birth. If post-natal genetic disorders are added the total rises to five to eight percent by late childhood. These categories encompass a large number of diverse diagnoses. Most of these disorders range from uncommon to rare to reportable. While these disorders are uncommon, their cost is considerable. (Macleod, 1993). Cystic fibrosis has been estimated to cost $6,000 a year for the 1/3000 children effected. Congenital heart disease has been estimated to cost $13,000 a year for an affected child. Hemophilia has been estimated to cost $10,000 a year. Spina bifida has been estimated to cost $10,000 to $20,000 a year. It is of course, crass and somewhat emblematic of our society’s approach to our fellow man, that we tend to focus more on the monetary cost than the human cost. However, in a crude way there is at least some correlation between the monetary cost and the severity of the diseases and thence the human cost. (Macleod, P.M. 1993) .

The approach which medicine takes toward this problem in the secular world is based on a medical ethics which is ‘pro-choice.’ The philosophical underpinning of the this approach tends to be utilitarian. The suggested solution is so-called selective abortion. As a solution abortion is simple, allegedly cheap, putatively easy and purportedly reliable. The pre-natal diagnosis industry tends to refer out abortion cases to the abortion industry. As a result, abortion is thought to be safe and since the patients have gone elsewhere, evidence to the contrary is easy to ignore and may not even be known. While there is evidence of the harmful physical and psychological effects of abortion, (Hilgers, T.W. 1972; Ney, 1994; Rue, 1994) these are not widely known. The complications of abortion seem to be glossed over in clinical counseling.

A pro-life alternative needs to be developed to counter the selective abortion paradigm. Several questions are thus raised. Can genetic disorders be treated? Can birth defects be treated? Can birth defects be prevented?

When the current generation of physicians was in medical school, the adjective "genetic" strongly suggested that a disorder was untreatable. For most of us it is breathtaking that each month week new treatments are being reported for genetic diseases. The cause of these disorders is being specified in such a precise way (the DNA sequence as determined by the Human Genome Project) that the cause often suggests approaches to treatment. Those of us who have finished our training need to discard the old idea that genetic disorders are untreatable. We should embrace the exciting news that treatments are being developed at a rapid pace for disorders once thought to be hopeless. The review of Beaudet et all (1995) lists so many types of treatments that they defy summarization. To give a flavor of all these new ideas I will just mention one representative treatment from each of several categories. Thus, I am not enumerating treatments, but categories of treatments. Even still, some categories were skipped.

Skeletal disorders include a large number of genetic disorders. They, like many other genetic disorders, can be treated by standard clinical means and these therapies are rapidly improving. Thus surgical reconstruction for skeletal disorders is an example of clinical treatment. The disease phenylketonuria is caused by an inability to metabolize the amino acid, phenylalanine (Beaudet et al 1995). Like numerous biochemical genetic disorders one way to treat this disease is by restriction of the substrate in the diet. Dietary phenylalanine restriction represents the category of substrate restriction as a type of treatment for genetic disorders (Beaudet et al. 1995).

Various types of congenital adrenal hyperplasia are genetic disorders in which there is a weakness in the ability to synthesize essential products. One way to treat this group of disorders is to provide the product as treatment. This category of treatment thus represents product replacement (Beaudet et al, 1995).

There are many biochemical genetic disorders which involve the production of a defective protein. Frequently the defective protein is an enzyme. In many cases the defect of the protein derives from the fact that it only binds weakly to co-factors which are essential for its proper function. Provision of what would normally be seen as excessive or pharmacologic amounts of the co-factor can overdrive a weak enzyme to the point that its function is more normal. One example would be the treatment of maple syrup urine disease with thiamine, also known as vitamin B₁. This category of treatment is called protein activation with co-factors (Beaudet et al 1995).

Another category of treatment is protein replacement. In this type of treatment a protein product which is not being produced in the proper amounts is replaced. One of the more obvious examples of this category is treatment of hemophilia A with factor VIII (Beaudet et al 1995).

Yet another treatment category is organ transplantation. The expression of many diseases is primarily within a particular organ. Replacement of the defective organ by organ transplantation could be called a form gene therapy. An example would be bone marrow transplant for beta- thalassemia (Beaudet et all 1995).

More dramatic, but less widely available therapies include various types of gene therapy. In one type of gene therapy, cells are removed from the body, transfected with a working version of the gene of interest, and then the cells are transfused back into the body through the bloodstream. The cells will often deposit within the appropriate organ. Liver cells could be removed from the body, transfected with the gene of interest and infused into the blood stream and may subsequently be found to have deposited themselves within the liver. This approach could be called in-vitro or extra-corporeal gene therapy (Beaudet et al 1995).

A more visionary type of gene therapy would be administration of a vector containing only the gene. The vector might be a virus like retro-virus or Adeno-associated-virus. This approach has only rarely succeeded but holds great promise.

In this section we have mentioned many different categories of treatment for genetic disorders. Within each category many individual treatments could be described for individual diseases. The point is that many treatments are available for many genetic disorders.

For a long time fetal surgery has been the unfulfilled "great white hope" of fetal therapy in obstetrics. More recently widespread appreciation of the enormous difficulties of successful fetal surgery has led to a widespread and perhaps excessive pessimism with regard to fetal surgery.

One overarching and very formidable difficulty of fetal surgery is the risk of premature delivery. Leaving a scar on the wall of the uterus is a significant irritant to the womb and uterine irritability means contractions. In many cases expectant or post-natal therapy is often better than intrauterine surgery. Fetal surgery has been suggested for urinary obstruction (Adzick and Harrison, 1992). It may be beneficial, but, many cases do not require intrauterine therapy and those that do are challenging. Intrauterine surgery has also been suggested for congenital diaphragmatic hernia. It would be fair to admit that the number of authors reporting successful therapy of human cases of congenital diaphragmatic hernia treated by intrauterine surgery is dismally low.

Expectant management is reasonable and humane if the prognosis is poor (Adzick & Harrison, 1992). Care should be taken to distinguish expectant management, with the avoidance of heroic measures where they are not necessary, from active intervention to abort, euthanize or starve the fetus or neonate. Anencephaly, trisomy 13 or 18, and bilateral renal agenesis are conditions regarded as lethal. Expectant management is an ethically acceptable approach in these cases.

Expectant management accomplishes several important goods. Birth, with family and supportive staff in attendance, can be psychologically and spiritually healing. Birth facilitates family support, and allows relatives to share the mother’s suffering. It also allows the mother to present her baby to family and the world. Mothers want to feel their baby is appreciated and loved by the world. Despite their seeming impotence, these babies can bring something wonderful to the world.

Cesarean delivery is beneficial for spina bifida, as it prevents the exposed membranes of the central nervous system from passing through the vaginal canal. Cesarean delivery may be useful for hydrocephalus if the head of the baby is so large it would not pass through the birth canal. Cesarean delivery is possible but not always necessary for abdominal defects as omphalocoele or gastroschisis.

Early delivery has been recommended as a therapy in some cases for intestinal ischemia and urinary obstruction. The fact that these options are possible does not necessarily mean that they are advisable. Use of early delivery as a treatment means that prematurity may be added to the baby’s other problems. These cases need to be individualized.

Neonatal surgery is effective for many anatomic birth defects. Thus children with hydrocephalus can be shunted postnatally. Babies with spina bifida can be repaired after cesarean birth. This repair will close the skin defect but will usually not prevent paralysis. In many cases urinary obstruction can be treated postnatally. Gastroschisis and omphaloceole can be repaired after birth.

There are numerous cardiac malformations, a growing number of which are amenable to surgical therapy and/or transplant. In some cases this treatment should be considered heroic. Costs may be several hundred thousand dollars, despite only a 50% survival. Transplants require long term immunosuppressant agents, which are far from benign in themselves. Infections can occur when the immunosuppressants dosage is too high, and rejection when the dosage is too low. Some birth defects require staged reconstruction, thus requiring a sequence of operations. These cases need to be individualized.

Pediatric surgeons of different surgical specialties prefer to have their patients in the best possible condition for surgery. As long at the patient is not actively getting worse, his or her ability to withstand and recover from surgery may improve with advancing gestational age. This consideration is often an impediment to fetal surgery. The opposite side of the coin would be that if this condition were serious and getting worse, and intervention would truly be remedial, then one could build a case for earlier intervention fetal surgery. The fact that fetal surgery is so rare in part reflects that the latter consideration often does not apply.

It may be that the surgical nature of obstetrics and gynecology may have blinded physicians to the non-surgical needs of the fetus. Perhaps the successful development of surgical therapy for the fetus, just as for the child and adult, requires an adequate basis of adjunctive medical therapy. Recessive fetal biochemical disorders have on rare occasion been treated before birth. In general these cases are candidates for medical fetal therapy. Many fetal biochemical disorders, even if treated immediately from the time of birth, do not necessarily achieve an entirely normal neurologic outcome. Early in pregnancy the fetal metabolism could be thought of as a drop in the maternal ocean. Toward the end of pregnancy, toxic accumulations of metabolites in the fetus can still dialyze across the placenta. The growing size of the fetus, though, makes this dialysis a little less effective. Disorders of fetal metabolism may affect brain development before the time of birth. As a result, even immediate diagnosis, and appropriate therapy beginning right at the time of birth, does not always necessarily result in an entirely normal fetal neurologic outcome. For these reasons fetal biochemical disorders may in some instances be suitable fetal therapy. Several such cases have been reported.

Methylmalonic acidemia has been diagnosed in the fetus. Maternal supplementation with vitamin B₁₂ was used to activate the enzyme. Multiple-carboxylase deficiency has also been diagnosed in the fetus. Maternal supplementation with biotin was used to activate the deficient enzyme. (Evans and Johnson, 1992).

From the pro-choice perspective, selective abortion is thought to be prevention of birth defects. From the pro-life perspective it is laudatory to prevent birth defects but this cannot be done after conception. Since life begins at conception, ‘prevention ‘ of birth defects by selective abortion is not prevention, it’s just abortion.

As mentioned above, birth defects affect three to five percent of all children at the time of birth. A more precise enumeration of this number will cast some light on where the problem really is and suggest some approaches to prevention (Beaudet et al 1995). If the frequency of the seven most common chromosomal disorders were added up the combined frequency would be 3.7/1000. If the frequency of the four most common biochemical disorders were added together the combined frequency would 0.4/1000. If the frequency of the seven most common molecular disorders were added, the combined frequency would be 5/1000. If the frequency of the six most common isolated structural abnormalities were added together the combined frequency would be 29/1000. This illustrates that isolated structural/anatomic lesions are much more common than any other category or even all the other categories taken together.

The presence of isolated structural and anatomic birth defects is a common cause of so-called fetally indicated abortion. If our goal were to develop a program to prevent birth defects and thus fetally indicated abortions, the overwhelming majority of the problem is isolated structural anatomic birth defects. This is a cause for great optimism.

There are many causes of birth defects, both multiple and isolated. Infections, such as rubella, syphilis, and cytomegalovirus are reasonably common causes of birth defects. (The use of the words common, uncommon and rare as they relate to birth defects should be set in the proper perspective. What passes for ‘common’ as a genetic syndrome would generally be thought of as a rare frequency in most other fields).

Drugs of abuse are frequent causes of birth defects. Some think alcohol may cause as much as 10/1000 birth defects, affecting 1% of all births. This could be an overestimate. On the other hand, most feel that it almost certainly causes 1-2/1000 cases of fetal alcohol syndrome. Since alcohol can cause other birth defects besides fetal alcohol syndrome, the lower estimate is probably too low. Since it is used so widely in our culture, one is tempted to suspect a higher frequency, but it is hard to know exactly what that frequency is. The most vulnerable are those people who don’t realize that they are pregnant yet. Similarly, tobacco and cocaine both cause birth defects. Tobacco use is much more common than cocaine use. On the other hand, cocaine is much more deleterious.

Certain commonly used medications may cause birth defects, especially anti-seizure medications. Diabetes is a common disorder and a major cause of birth defects, especially when it is not controlled before conception. Phenylketonuria has a frequency of about 1/10,000. Both these disorders cause birth defects if uncontrolled before conception. When they are controlled before conception, the frequency of birth defects is about the same as that in the general population. The background rate for the general population is about 3-5%.

Environmental toxins such as lead are known to birth defects. It’s difficult to know how common environmental toxins are as causes of birth defects. (Stevenson, R.E. 1993).

Many recent news reports have praised the beneficial effects of folic acid, otherwise known as vitamin B_9, in the prevention of birth defects. These reports extol the benefits of folic acid in preventing neural tube defects which include spina bifida and anencephaly. While this is a great breakthrough and it is true as far as it goes, an important part of the story has not been emphasized. Folic acid has not only been shown to prevent neural tube defects, it has also been shown to prevent urinary tract anomalies, some cardiovascular defects, some limb deficiencies and cleft lip and cleft palate (Czeziel, 1997). Its not just neural tube defects, but multiple different birth defects which can be prevented by folate.

Numerous deficiencies of one or more of the B vitamins have been associated with birth defects either in humans or animals or both. These include thiamine (Vitamin B₁), riboflavin (Vitamin B₂), niacin (Vitamin B₃), pantothenic acid (sometimes imprecisely known as Vitamin B₅) pyridoxine and its congeners (various forms of Vitamin _B6), cobalimin (Vitamin B₁₂), folate (see above), and choline.

With other vitamins, birth defects, (in humans or animals or both) can be caused either by deficiency or by excess of those vitamins. These include vitamins A, C, D, and E. Since vitamins A, C, and E are all antioxidants and since antioxidants can be toxic it is not unreasonable for that general principle of vitamin toxicity to apply as well in the situation of nutritionally induced birth defects. (Shaffer, 1993; Hurley, 1980).

Deficiencies of minerals have also been associated with birth defects either in humans or animals or both. This list is intended only to indicate the scope of the problem, but it is not exhaustive. Deficiencies of minerals commonly present in large amounts including calcium, magnesium and potassium have been associated with birth defects (Shaffer, 1993; Hurley, 1980). Copper and iodine have been associated with birth defects either in humans or animals when either deficient or excessive. (Shaffer;1993; Hurley; 1980). Manganese and Zinc have been associated with birth defects when present in deficiency. Selenium and chromium have been associated with birth defects when present in excess. (Shaffer, 1993; Hurley, 1980.) It’s not yet clear how many more minerals should be added to this list.

Links between nutritional deficiencies and excesses and birth defects have been known for a long time. While this information has been known in the animal literature for decades, it has only recently begun to be applied in human studies. The work which has been done in humans has been largely limited to folate, or to folate-containing multivitamins. Little has been done in humans with other vitamins. Aside from the work of Czeziel, little has been done in humans to extend these findings to a comprehensive program.

^1. Laurence KM, James N. Miller MH (1981). Br. Med Journal 282:1509^2. Czeziel A. Fritz G. (1989) JAMA 262:1633^3. Vergel RG, Sanchez LR, Herdero BL et al (1990). Prenatal Diagn 10:149^4. MRC Vitamin Research Group (1991) Lancet 338:131

Studies of the frequency of different causes of birth defects usually don’t mention nutrition as a cause. They do indicate, however, that unknown and multi-factorial causes represent by far the majority of the causes of birth defects. Neural tube defects are birth defects whose causes are thought to be multi-factorial. As noted above, their studies indicated that each of these birth defects can be reduced by nutritional intervention. Thus some portion of the multi-factorial and/or unknown causes of birth defects could be reduced by nutritional intervention, and it is uncertain how large this group is. The way then is open to develop a comprehensive program of birth defect prevention based on improving nutrition and eliminating causes of birth defects.

Since preconception care prevents birth defects before conception, it should be an area of keen interest for pro-life perinatalogists and pro-life geneticists. Nutrition has often been underestimated because it is thought to be simple and ineffective. Since nutrition is the practical application of biochemistry, nutrition couldn’t any simpler than biochemistry. There is the potential to do a great deal of good and to avoid outcomes which may be either economically prohibitive, ethically abhorrent or both.

The above information could be organized and synthesized into a comprehensive and practical program to prevent birth defects. Such a program should begin six months before conception. Since many conceptions are not planned, or they are planned but not six months in advance, it would be ideal to consider all premenopausal women and their husbands as candidates for preconception care.

Any chronic maternal medications, particularly anti-seizure drugs, and maternal disorders should be considered and possibly addressed. While it’s a tall order, drugs of abuse such alcohol, tobacco and street drugs should be avoided in women of reproductive age.

All are recommended to follow a healthy diet. Depending on who is using this term, it may either be either a dismissive platitude or a comprehensive and significant concept. The latter is intended here. A comprehensive multi-vitamin, multi-mineral is recommended. The difficulty of choosing a good vitamin should not be underestimated.

While most consider oral contraceptives to have low risk for non-genital birth defects, the risk may not be zero. Contraceptives are class X drugs, and so from the author’s perspective they should not be used by anyone who could become pregnant, if the intent is to prevent birth defects. There has been some concern about an association between oral contraceptives and VACTERL association (Briggs et al, 1994), although this concern is not widely accepted. VACTERL stands for vertebral, anal, cardiac, TE fistula, renal and limb anomalies.

As a general principle it would be valuable to evaluate and either treat or vaccinate against certain infections. Any toxin exposures need to be addressed.

The foregoing presumes that we are all the same on a biochemical level. In fact, though, each of us has a certain degree of biochemical individuality. The whole program may need a degree of individualization.

While such a program would not be a trivial undertaking, providing an alternative to "fetally indicated termination" is an exciting prospect. It is hoped that such a program would be cheaper, more widely applicable, more effective and certainly more ethically palatable than the current selective abortion industry. Preconception care is an area which warrants further research. It should be extended to reach is maximum potential.

Alternatives to termination for "fetal indication" exist and are gradually becoming plentiful. An ever increasing number of genetic disorders can be treated. There are many different ways to treat genetic disorders. In some cases fetal therapy may be applicable. Non- intervention is always ethically superior to fetally indicated abortion.

Contrary to popular misconception, most birth defects are not genetic in origin. Birth defects can be caused by deficiencies and excesses of nutrients, toxins, infections, drugs and/or diseases. Clinical intervention trials have demonstrated that birth defects can be prevented by folate and/or multivitamins. The concept needs to be extended further.

The assistance of Mrs. Suzanne Baggot is gratefully recognized. Part of this work was done at the Pope Paul VI Institute in Omaha NE, which is directed by Dr. Thomas Hilgers.

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