Show Doctors Now Noun Detect and Treat Defective Babies Before Birth By HENRY L L. NADLE R MD M.D. Assoc Prof of Pediatrics Northwestern University Medical School Chia Chicago o Every woman wonders atone at atone atone one time or another whether her children will be normal The question is especially urgent for those thousands of women who know that someone in their family or their husbands husband's family was born with a birth defect Until recently doctors have seldom been able to offer meaningful answers to worried worried worried wor wor- ried families but now they can effectively counsel prospective prospective prospective pros pros- parents After family histories are taken and diagnostic diagnostic diagnostic nostic studies performed doctors doctors doctors doc doc- tors often can determine before before before be be- fore conception or during pregnancy whether a child will be normal Genetics Provides Clues This developing medical specialty is called genetic counseling Such advice or referral referral referral re re- re- re ferral to genetic services is isnow isnow isnow now available at many of the themore themore themore more than March of Dimes Birth Defects Centers across the nation I What information can these I doctors offer Well Mrs Collins Collins' Collins Collins' Collins Collins' Col Col- lins' lins husband has a year five-year- old brother who is a mongoloid mongoloid mongoloid mongo- mongo loid child Mrs Wilsons Wilson's brother died from the effects of hemophilia Mrs Jenkins Jenkins' sister almost lost a child to Rh blood disease disease disease dis dis- ease Naturally these are not their real names Each of these couples wants to know What chance do we have for fora a normal healthy baby Doctors usually can now supply answers answers and and in some cases medical treatment to help assure a healthy child Physicians can offer two kinds of answers to these par par- Based on his knowledge of genetic inheritance he can cantell cantell cantell tell them the odds of having havinga a defective child Prenatal detection of genetic genetic genetic ge ge- ge- ge disorders has brought a anew anew anew new dimension and precision to genetic counseling Now in in some instances the physician can give a precise answer Studying s Child To study the unborn baby the physician sometimes uses a procedure called A thin hollow needle is is inserted through the pregnant womans woman's abdomen into the amniotic sac or bag of waters n National Institutes of Health Photo Dr Henry L L. center explains chromosome structure to a couple considering parenthood Genetic counseling often provides provides pro pro- vides answers to questions about inheritable health problems to withdraw a little of the fluid that surrounds the baby The procedure is virtually painless and can be performed as early as the week It is done however only when a doctor has a good reason reason reason rea rea- son to suspect that the fetus may be defective For instance instance instance in in- stance the mother might al already already already al- al ready have had an abnormal child or she might be over 40 The amniotic fluid contains cells shed by the growing baby In the laboratory the cells ceils are carefully analyzed to determine whether or not a achild achild achild child has one or more known genetic defects Defect Detection The presence of disorders due to extra broken or missing missing missing miss miss- ing chromosomes can often be detected Such defects include mongolism as well as other conditions Many diseases caused by inborn errors of body chemistry chemistry chemistry chemis chemis- try can also be detected Examples Examples Ex Ex- Ex amples are maple syrup urine disease and two enzyme disorders Both diseases diseases diseases dis dis- eases if not detected and treated can lead to mental retardation What is done with this information information information mation Once the diagnostic procedure has been completed several avenues may be open The knowledge that a mother moth moth- er is carrying a fetus with a severe defect such as mongolism mongol mongol- ism raises the question of termination termination termination ter ter- ter- ter of pregnancy The parents must face the many moral ethical and legal questions questions questions ques ques- that are raised when therapeutic abortion is con con- But in many instances knowing that a defect is present present present pres pres- ent may enable the doctor to take steps to stop further damage damage damage dam dam- age from occurring Prenatal treatment is available available available avail avail- able for potential victims of Rh blood disease If parents know that their Rh blood factors factors fac fac- fac tors are incompatible and that their child runs the risk of damage a doctor can perform amniocentesis and cell examination examination nation to determine whether the fetus is in danger If he learns that the infant infantis is suffering severely from Rh blood disease a blood transfusion transfusion transfusion trans trans- fusion can be performed directly directly directly di di- through the mothers mother's abdomen Intrauterine transfusions transfusions transfusions trans trans- fusions of whole blood into the fetus vastly improve the chances for survival Although this procedure cannot reverse damage that had already been done before the transfusion was given it may stop further damage Research into the causes and prevention of birth defects defects defects de de- de- de is providing more information information information mation every day As this knowledge is coupled with new developments in prenatal diagnosis we can move toward toward toward to to- ward further prenatal treatment treatment treatment treat treat- ment of defective babies These accomplishments are arc bringing about an important advance in the fight against birth defects |