Apgar on Birth Defects Virginia Apgar, M.D. For mothers, for fathers, for grandparents, indeed, for all mem- bers of every family on earth, there is no greater gift than that of a normal, healthy baby. Yet those of us who spend much of Dr. Apgar is vice president for medical affairs, The National Foundation-March of Dimes. She is the creator of the “Apgar Score” which is now standard procedure in many hospitals throughout the world. Made within 60 seconds after birth to determine a baby’s overall condition, this vital clinical evaluation serves to alert physicians to the need for emergency pro- cedures, A graduate of the Columbia University College of Physicians and Surgeons where she was the first woman physician to hold a full professorship, she also holds a master’s degree in public health from the Johns Hopkins Unwersity. She is the author of more than 60 publications for physicians on anesthesiology, resuscitation, and congenital anomalies, 20 our ume in hospitals or in the homes of the physically or men- tally ill know only too well that every baby is not born healthy. Many seem condemned from birth to a life that some believe is worse than death. I address this not to those who hang their heads and think, “How tragic!” when they see a child with multiple deformities, but to those who look such children squarely in the eye and ask, “What can I do to help?” Some kinds of birth defects can be prevented. Many other condi- tions which we cannot yet prevent, we can treat. But before medical professionals try to prevent or treat these conditions, they should un- derstand birth defects are and what causes them. Birth defects—those 1,000 or more disorders that can kill, crip- ple or retard—are mistakes in body formation or function that happen when a baby comes into being. They may be caused by heredity, by disease, or by something that happens to the fetus in the womb. kach year, in the United States alone, an estimated 250,000 babies —one almost every two minutes— what come into the world seriously de- fective in some way. Some of these conditions are so slight that tha are but minor inconveniences. Cg or blindness, for example, usualy means that the individual canng tell red from green. On the othg hand, the baby born with multipy defects involving many organs ma die almost at once. Between the extremes there are many cond] tions that disable bodies and minds, such as cleft lip, cle palate, water on the brain, peng spine, dwarfism, shortened or Misgg ing arms, diabetes, cystic fibrosig: heart defects, mongolism, and Othe er forms of intellectual impaire ment. In absolute numbers, more thay half a million lives are claimed each year by birth defects, ome 60,000 deaths among children and adults annually can be traced to defective prenatal development, An estimated 500,000 fetuses a year are spontaneously aborted or still. born because of abnormalities. These appalling statistics ex. plain why The National Founda tion-March of Dimes, after organiz- ing and directing the conquest of polio, turned its attention and its research resources to the fight against birth defects. What are the causes of birth defects? Let us begin with a few points about some of the thing¢ that do not cause birth defects There is a great deal of supersti- tion about birth defects that dates back to antiquity and that even today has a surprising number of believers. For example, when a child was born with a hareli:,, its mother was often thought to have been frightened by a rabbit during pregnancy. Also, the arrival of a deformed child was sometimes in God's punishment. The guilt and shame felt by some parents of children born with birth defects has its roots in such ancient beliefs. terpreted as Neither the sudden jumping of rabbits nor the wrath of an angry deity causes birth defects. How ever, we can blame heredity for about 20 per cent of these dread conditions. PKU, as an. exe iple, Is an inborn error of metabvlis@ The Journal of PRACTICAL NURSIN@ quse>. by interference in the en: onient of the developing fetus. nfection of the mother by Ger: gan measles or use of the drug palidomide during certain stages of pregnancy are environmental agents which may have disastrous eitects on the fetus. oA combination of environmen- ral aud hereditary factors working rogether causes the great majority of birth defects. The younger than eighteen or older than forty runs a greater risk of giving birth to a baby with a de- mother fect than a woman in her twenties or th-rties. The rate of mongolism, which is caused by a chromoso- mal abnormality, increases greatly among mothers over forty. Just as some individuals, because of in- herited sensitivity, are allergic to environmental things like pollens and drugs, so the hereditary make- up of an unborn baby may pre- dispose him to damage from out- side imfluences that would not aflect another baby of different genetic constitution. Once we know © something about the causes of birth defects, we cin begin to see ways of pre- ventng these conditions from oc- curing at all. Birth defects preven- tion should begin before marriage. Proper diet, maintaming normal weight and good hygiene, as every nurse knows, are conducive not only to the good health of parents, but also to that of their potential offspring. The couple with a family his- tory of hereditary abnormality may want to seek professional counsel- ing on their risk of having a de- fective child. Certainly all people should marrying a clos: relative is potentially dan- ®erous increases the chances of bringing together po- tentially harmful genes. Also, tests have been developed for spotting realize that because it hereditary carriers of a few disease traits such as galactosemia, sickle fell anemia, and the blood de- ficiency, agammaglobulinemia. It Bhould be noted that there are tests tor German measles immunity, and Within the next few months we ‘DcToBeR, 1968 This young victtn, of @ condition which caused him to be born without arms is greeted by nurse Sisan Brompass and plrys- ical therapist Shirley ©. Fisher at the Birth Defects Cenier associated with the University of North Carolina School of Medicine, Chapel Hill Dr. Apgar in the delivery room > should have a vaccine to prevent the kind of tragedy this “mild” disease can cause when a woman has it in early pregnancy. Perhaps the greatest ment in birth defects prevention is the Rh vaccine that Is now on advance- the market. Rh incompatibility is a condition which once killed or 10,000 babies born in the United States caused brain damage in each year. In recent years about 95 per cent of these babies were saved at birth by means of ex- change transfusions, An estimated 40 per cent of stillborn Rh babies could be saved by new techniques of transfusion before birth. But, with the new gamma globulin in- jections given to Rh_ negative women within 72 hours after the birth of their first baby, complete prevention of the condition is now possible. nine months, the most important thing an expectant mother has to think about is prop- er prenatal care. By prenatal care I mean, generally, what is or is not done during pregnancy. The first thing any woman should do when she even suspects she is pregnant is to see a doctor. He will advise her on some of the important aspects of prenatal care such as X-rays (low back and pelvic X-ray pictures are to be avoided); heavy smoking (studies show that when the mother smokes excessively, the baby may weigh less than normal, and if the baby is born premature- ly, this difference could affect its For about survival); and drugs tant mother should not take any drugs—including aspirin and pain killers—without =a from a doctor who knows she is pregnant) . When a baby is born with a birth defect there is a great deal professionals can do to (an expec- prescription medical help. We can control many con- genital diseases, repair handicap- ping conditions, or in other ways restore children to health and a useful life. One of the keys to success is the earliest possible de- tection of the condition and prop- er treatment. Here are some ex- amples of what can be done: Open Spine. Little more than a decade ago, the child born with spina bifida, or open spine, was more often than not the victim of fatal Today, surgeons can close and repair the spinal opening in all but the most severe cases. Many of these children who are partially paralyzed below the waist because of spinal nerve dam- age need the attention of various specialists to see through years of learning to walk with braces, adapting to special proce- dures because of loss of bladder and bowel control, and adjusting mentally and physically to family, school, and community life. The results—victory over handicap—are as inspiring and gratifying as simi- lar triumphs by victims of acci- dents, polio, and other crippling conditions. Hydrocephalus. For the victims infection. them 21 t ma ) A nurse at the Birth Defects Center in the Boston City Hospital looks after a “preemie” in an Isolette. Many preemies are victims of some type of birth defect. of hydrocephalus, or water on the brain, special tube devices called shunts have been developed to drain excess fluid harmlessly from the head into other parts of the body. This life-saving device can often prevent retardation and ab- normal skull expansion, Clubfoot. Babies born with club- foot twenty or more years ago more often than not, left untreated in their early months in hope that spontaneous Improve- ment Pediatricians and orthopedists now know. that were, would occur. the idea of any spontaneous im- provement in true clubfoot is wrong—rather, growth and in- creased weight increase the prob- lem. Today, doctors treat clubfoot immediately by forcing the feet position — thus stretching the shortened muscles ind ligaments and aligning the hones into a more natural relation- into a normal 22 ship. In the large majority of cases, casts, braces, and corrective shoes will correct the condition before the child is ready to walk. Occa- sionally, surgery is also needed. Congenital heart defects. It is possible to correct many congeni- tal heart defects so that children who would otherwise be con- demned to invalidism and early death can grow up to lead normal lives. Incomplete esophagus, dia- phragmatic hernia. These and oth- er once-fatal malformations of in- ternal organs may now be repaired within hours after birth by pedi- atric surgeons. Genito-urinary defects. Surgeons have been making great strides in developing techniques for treating ureters, and the whole genito- urinary system. Other defects can be treated by abnormalities in kidneys, bladders, special diets to either remove food substance the body cangj handle or to provide ex are now being fitted with artifict limbs almost as soon as they ready to walk or grasp. A decade ago many of them, look for babies born with birth defects. A great deal of research # of these complex Much of it is being conducteg with government funds; some ig supported by groups devoted t@& one or another kind of defec¢ i The National Foundation March of Dimes finances a broadg nationwide program of research i ins to the causes of birth defects wi an eye toward both prevention and, better treatment. Scientists are 08 ploring the nature of the her tary material, DNA. ‘They studying cells, chromosomes, chemistry, body systems, and numerous problems of diagno and treatment of specific cond! tions, At the same time it is expanditl its nationwide network of B . which now nuf bers more than 100, to provid what we term “the team concep of treatment for the “total chil When a baby is born with & birth detect, his parents need advice, reassugg Defects Centers, most immediate ance, and perhaps financial °, The baby ma necd the kind of care that only.§ other assistance. number of specialists can provi This “might involve taking oe gist to neurosurgeon pedist. It might mean refe from physician to physician, from town to town. ; . : 2 Ca A Birth Defect Treatment The Journal of PRACTICAL NUR bove) Arthrogryposis is a birth defect t twists and stiffens the arms and legs. x 3 year-old victim Laura Wagoner, alhini.s does not come easily. Here she is ped at the Birth Defects Center asso- ted with the University of North Caro- na School of Medicine, Chapel Hill, by . Loren G. MacKinney. ight) Joan Rutten, 6, Falls Church, Va., seriously crippled by multiple birth de- ects. Nurse Mary A. Jackson removes body set and leg braces prior to check-up amination at Children’s Hospital of the istrict of Columbia. fer provides complete diagnostic services and the best of care in a ‘single setting. Perhaps as many as Bcroser, 1968 examine the 16 specialists will child, evaluate his problems, and plan about them. This is the team concept of medical care. When we speak of treating the “total child,” we interested in more than the medi- cal aspects of his problem. There are medical social workers on the center teams to help the parents whose problems with a birth de- fects child do not end when they leave the clinic. It what can be done mean we are should be noted, also, that these Birth De- fects Centers are associated with medical schools or teaching hospi- tals. “Feaching medical students and other professionals to care for birth defects victims is thus an integral part of the center pro- gram. With the expansion of facilities, the blossoming of research, the improvement of medical care, and the awakening of interest in the American people, the victim of birth defects can hope to lead a relatively normal and useful life and certainly a life that is well worth living. Moreover, medical science is on the threshold of new discoveries that will lead to the prevention of many of these dread conditions. Litthe more than a decade ago there were relatively few professionals or private citi- zens who had any hope for the victim of birth defects. Today there is more than hope—there ts the joy and triumph of progress. 23