on Birth Defects Virginia Apgar, M.D. For mothers, for fathers, Cor 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 virr president for medical aflairs, Thr !Vatioiinl Foundation-March of Diines. .She is the rreutor of tlie "Afigar .Score" n'liicli is rioiir strindarc1 pocrtliirr in tnnny hospital^ throughout the umrld. Afade within 60 seconds after birth to rlrterrnine a baby's or~rrall condition, this uital cliirical rvalnution set71~~ to alrrt pliysirinns to the nred for enicrg~ricy pro- rerlicrec. A jiratliiute of tlie ColiiriiDin l:ni7~.tity College of PlipsirianA /ind Surgrons rclierr slie iiws the fiut u~otrian plrysirim to tiold 11 fit11 l,rofr,s\or.\tiit), the i11t~i liolrlt u itinitc,r'c r1egrr.c iii piilili( Ireultli ~IOIII tlir \oliris No/~kiii\ l'nirwsity. )Ire is tli/, n11tlior of mort 1hn 60 pitblirali~iiis for pliyiiriaiii oil ciiirstlirtiolog~, rc~rtsri~c~~ior~, nnrl rongrnitu I anoniciliec. our time in hospitals or in the homes of the physically or inen- tally ill know only too well that etery Ixtby is not born healthy. .\I;iny seem condernnetl from birth to ;I life that some l)elie\e is worse than cleath. I xldress tliis not to those n.110 Iimg their heads and think, "FIow tragic!" when they see ;I child with multiple tleforinities, but to those who look such children squarely in the eye and ask, "IVhat can I Some kinds of birth defects can be prevented. Many otlier condi- tions which we cannot yet pre\ent, we cxi treat. But before medical profession;ils try to prevent or treat these conditions, they should un- derstand what birth defects are and what causes them. Hirtli defects-those 1,000 01- more disorders that c;in kill, (rip pie or t-et;irtl-;u-e mistakes in hocly forination or function that happen wlien a I):tl,y conies into being. They may be caused by heredit), by tlise;ise, or by something that li;tpl)en5 to tlie fetus in the womb. khcli pi-, in thc United Stirtea iilone, ;in e5tini;itctl 2550,000 Ixibieh -ow ;iliiiost every t\\m minutes- (onie into tlie world serioitsly de- lec tive in mine way. Some of tliese do to llelp?" conditions ;ire so slight tltat the ;rt-e but minor inconveniences. f& or blindness, for example, usuag means that the intliviclunl c:innH tell red from green. On the otha hand, the baby born with multipg tlefec ts involving niany organs ma die almost at once. Isetween tllw extremes there are many con4 tions that disable boclies am inirid~, such as cleft lip, cleg p:iIate, water on tlie brain, )pea bpine, dwarfisin, ahortenetl or rnisg ing :trim, diabetes, cystic filjrosiq heart defects, mongolism, and oth, er forms of intellectual impaim tit en t . In ;il)solute nutnljcrs, more than Iialf it million lives are &lime& each year by birth defects. .>ome (i0,OOO deaths among children and ;rditlts :inniiall) can be traced ta tlefecti1.e pren;i tal dewlopment .\ti csiirnatecl 500,000 fetuses a year i11-e spoiit;ineously :ihorted or still. born Ijecaiise of al,noi-rn~tlities. 'l`liese ;~ppalling st;itistic~ ex- ])lain 1v1iy The Sational Fotinda. tion-,\l;irc Ii of I)imeb, after organiz- ing and directing the conquest of Imlio, turned its attention mid its rese;ircli resources to the fight against birth defects. \That are the causes of birth defects? Let us begin with a fevJ points about some of the thin@ that do not cause birth defect3 Tliere is a great (leal of supersti. tiori about birth defects that dat& back to mtiquity and that even totlay Iias a surprising number ol believers. For example, when a tliiltl was born with a hareli,,, iW mother W:IS often thought to have ljceri friglitenetl by ;I rabbit during ~~iqn:cncy. Also, the arrival of a tiefornieci t Iiiltl W;IS sometimes in- terpreted ;IS c;otl's punishment. The guilt and sIi;inie felt by Some parerits of cliiltlren born with IJii-tIi tletects Iias its 1-oots in ;in( ierit 1)eliefs. ~cit~ier the sutltlen jumping of r;iI)I)itj nor tlie wratli ot an angry tIcit) caiises I)it-tIi (Iefects. flow mer. ~ve (;iii I)laine 11eretlity for x\miit 20 per cent of these ({read tonclitions. PKCJ, :is ;til es;l lplee i\ ;in in1)oi.n ct-ror of nietaWsm 20 The Journol of PRACTICAL NURslNq ,ilse, 1)) iiitcrlcrciitc in 11ic eii. 11 I en t of t lie tlc\.clopi rig t et u\. ,?I~~~~OII 01 the 1~iotlicl- 1)) (;CIF :t7" 11le;rslc~s 01' 11w 01 the tlrug r~.ali(lomitle tlrtr-ing certain stages ,J pregnancy are en\ ironmcnt;rl wliicli nl;ry li;r\-e clisastimu5 A , ornl,in;ition of environnien- a11c1 Iiereditary Lic-tors working iogetlier causes the great majority trt birtli defects. The mother youngel- than eighteen or older forty i-um a greater risk of Iiirth to a baby with a tle- feet than ;I woman in Iier LTventiea or tli .]ties. Tlie rate of mongolisni, whicli is caused by a chromoso- mal almorrnality, increases greatly among mothers over forty. Just as wme indi\~iduals, because of in- herited sensiti\,ity, are allergic to enviroriInerita1 things like pollens and drugs, so the hereditary make- up of an unborn bal)y may pre- dispose hiin to damage from out- side influences that would not affect another baby of differenc genetic- cons tit 11 tion. Once we know something about tlie auses of birth defects, we (:in begin to see way of pre- wnr.tig tliese tonclitions from oc- curing at all. Birth defects preven- tion hnld begin before marriage. Proper diet, inaintaining normal weight antl good hygiene, as every nurse knows, are conducive not only to the good health of parents, but also to that of their potential offspring. Tlie couple with a family his- tory of hereditary abnorniality may want to seek professional counsel- ing on their risk of having a de- fective c1iiId. Certainly a11 people BhodcI realize that marrying a ch' relative is potentially clan- gerous because it increases the chances of bringing together po- tentially harmful genes. Also, tests have Ileen tlevelopetl for spotting hereditary carriers of a few disease "hits such as galactosemia, sickle Cell anemia, and the blootl cIe- ficicncy, agammaglobulinernia. It shld be noted that there are tests for German measles immunity, and h'ithin the next few months we *f:l ,,fiect~ 011 tlie fetrls. Y~I/r.~ sririiifi 711Ctif:, of I, , i~;~di/ioii r1.lrir11 roii\c.rl Iriiii 111 I:, Ooin ii,iiliotit or??!> I\ rrcrl tliriclpict Sl/~i/rs t:. fz\tier at liic fil./?f'/('(/ IJY 71111>C ~hi<>/ill /{llffl/l(/tt 07ld f)/l,)\~ lji1/11 Defects (:t,liii'7 nc,(~r io/rr/ willi tll~ 1 'irivrrtity of Kii! /ii (,~( iolinii Srtrool of ,3frrlicinr, CIlnprl ffill nl. Algal 111 f/I? (/f'//I'/'?-S 100771 b dio~ltl Iia\c :I ciiic' to prevent tlie kintl of 11 ;rgeti) tliis "niilti" di5ease c;in c;iiise ~vlien a woiii;iii Iias it in early 1)iqn:inc!. Perliaps the greatest xl\xnc e- ment in birth tlefcc t~ prevention is tlie Kli vaccine tlixt is now on the market. KIi iiiconil';rtil,ility is ;I condition which once killed or caused brain tl;image in 10,000 Ixibies born in (lie LJnitctl Statcs e;rcIi year. In recent )'eat-s about !)5 per cent of tliese babies werc s;rvetl at birth by means of es- c 11 ;in ge tr ;I 11 s f11si on 5, .L\ 11 es t i In ;I I et1 40 per cent of stillborn Rli 1)al)ies could lie saved by new techniques of ti-msfusion before birth. Eut, with the new gamma glo1)ulin in- jections given to Rh negati1.e women within 72 hours after the birth of their first baby, complete prevention of the condition is now possible. For about nine months, the most important thing an expectant mother has to think ~I,OUC 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, antl if the baby is born premature- ly, this difference could affect its jiir\.ival) ; ;ind drugs (an expcc- txit inother diould not take any (I r ugs- i 11 c1 u d i ng a s pir i n and pain kiIIei.s-.cvitIiout a prescription from :I doc tor who knows she is pregnmt) . Tt'lien ;I lxiby is born with ;I birtli defect there is a great deal Inetlical pr~fessionals can do to help. 12'e an control many con- genital diseases, repair hantlicap- ping conditions, or in other ways restoi-e cliilclren to health and ;I iisetul life. One of the key to jut( ess is the earliest possible tle- tection of tlie condition and prop er treatment. Here are some ex- :iiiiples of what can be done: Open Spine. Little more than a tlecatle ago, the child born with spina bifida, or open spine, was niore often than not tlie victim of fatal infection. Today, surgeons tan 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 dani- age need the attention of various specialists to see them 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 antl gratifying as simi- lar triumphs by victims of acci- dents, polio, and other crippling conditions. Hydrocephalus. For the victims 21 A niirse at the Birth Defects Center in the Boston City Hospital looks after a "preeinie" iiz an Isolette. itlany preernte\ are vzctztris of somc type of birth drfect. of hydrocephalus, or water 011 the brain, special tube devices called shunts have been developed to clrain excess fluid harmlessly from the head into other parts of the I)ody. This life-saving device can often prevent ret;ircl;ition ant1 ab normal skull expansion. Clubfoot. Babies born with club- loot twenty or more years ago tcei-e, iiiore otten than not, left utitre;itecl in their early nionths in hope that spontmeoiis improve- iiient would occur. Pediatrici;rns ,ind ot-tliopcclists now know tli;i t the idea of any spoiit;iiieoiis im- /)I ovenieiit in true t Iiibfoot is rcrong-r;ither, growth ant1 in- ( i-eased tvciglit increase the pol)- Imi. Totliiy, doctors treat ( Iubfoot iiiiinetli;itely by forcing the feet into ;I iiorni;il position thu\ ,tt-etthing tlie dlortenetl muscles itid 1ig;iiiictits ;ind dignitig thc `)ones into ;I more n;itural relatiori- 22 ship. In the large majority of cases, casts, braces, and corrective shoes will correct the condition before the child is ready to walk. Occn- 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- tlenirietl to invalidism and early death can grow up to lead normal lives. Incomplete esophagus, tlia- phragmatic hernia. These ant1 oth- er once-fatal malformations of in- ternal organ\ may now be repaired within hours aftcr birth by 1)etli- atric surgeons. Genito-urinary defects. Surgeons have Ixen making great strides in (leveloping tech iques lor treat iiig iil)tlort1i;ilit ies in kidneys, ureters, t)la&lcr~, :ind tlie wliole genito- 11 ri t1ai-y j) stem. Otfier defects can be trc;itetl by special diets to eithei rein food substmce the body (< haitclle ot to pro\ide amounts of `I substance the b needs. Such diets do not cure, they can prevent damqe from cui I ing. Lven children with ing or imperfect mns or legs be helped. hlany of these chi1 ne) Artliwgryposis is a birth defect twists and stiffens the arms and legs. 3 ~1ear-old victim Laui-a Wagoner, it,&; doe3 not come easily. Here slit, is ed ut the Birth Defects Centei- usso- d with tlie liniversity of North Cnro- School of Medicine, Clicrpel Hill, by Loren G. AlnrKinney. ht) Joan Rutten, 6, Falls Church, J'a., riously crippled by multiple birth de- . Nurse Alary A. Jackson removes body et arid leg braces prior to check-tip ination at Children's Hospital of the ict of Colitrn bia. er provides complete diagnostic Lwicer and the best of care in ;I `single setting. Perhaps as mmy as 16 speci;iliats will ex:unine the child, evaluate his probletils, ant1 1)lan w1i;it (;in be done aborrt tlicni. Tliih is the teaiii concept of niedical c;il-e. \Vlieii we spe;ik of tre;ititig tlie "total child," we meat1 we ;ire interested in inore than tlie metli- (211 ;ispects of his problem. l'l?ei e are niedical social workers on the center teams to help the Ixirents whose pro1)lerns with :I birth tle- fects child do not end when they leave the clinic.. It sliould be bBER, 1968 23