Congenital,Anomalies,Question, health Congenital Anomalies

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Question: What are examples of congenital anomalies?Congenital anomalies include bone disorders, cataract, cleftpalate, cretinism, Down's syndrome, congenital heart disease,hemophilia, joint disorders, pyloric stenosis, and spina bifida.Blindness, deafness, hydrocephalus, and jaundice are also often due tocongenital anomalies, although in other cases they are the result ofevent that occurred after birth.Limbs or organs may be malformed, duplicated, or entirelyabsent. Organs may fail to move to the correct place, as incryptorchidism; fail to open correctly as in imperforate anus; or failto close at the correct time, as in patent ductus arteriosus.Congenital anomalies often occur together. For example, 33 percent ofbabies born with Down's syndrome also have heart disease.Question: What may cause the development of congenital anomalies?Congenital anomalies arise from the faulty development of afetus, caused either by genetic disorders or other factors. Someanomalies arise from a combination of factors, and the underlying causeis far from clear in all cases.Question: How are genetic disorders responsible for congenital anomalies?Inherited congenital anomalies generally result from thepresence of abnormal genes or chromosomes. Heredity is determined bycorresponding pairs of genes, called alleles. One of these paired genesis dominant and the other recessive, and it is the dominant gene thatgoverns the transmitted trait or characteristic. Thus, if the abnormalgene of a pair is dominant, the abnormal or anomalous trait will beconveyed to the embryo. If the abnormal gene is recessive, then bothgenes in the pair have to be abnormal for a congenital anomaly tooccur.Some congenital anomalies, such as hemophilia, are linked to adefect of one of the sex chromosomes. Many genetic disorders, however,are neither wholly dominant, recessive, nor sex-linked, but may becaused by more than one abnormal pair of genes.Question: What other factors may cause congenital anomalies?Infection in the mother is a common cause of abnormality in ababy. For example, an attack of rubella during the first three monthsof pregnanacy may cause her child to be born deaf or have cataracts,heart disease, jaundice, or other anomalies. Cytomegalovirus (CMV) andtoxoplasmosis also cause congenital anomalies.Certain drugs taken by a woman during pregnancy are oftenresponsible for abnormalities in the child. For example, large doses ofcorticosteroids can cause a variety of congenital defects, as can someanticonvulsants given to control epilepsy. Other drugs includeanticancer drugs; narcotics and sedatives; tranquilizers andantidepressants; antibacterials, especially tetracycline;anticoagulants; drugs prescribed to treat cardiac conditions andhypertension; oral hypoglycemic used to treat diabetes in the mother;and, of course, heavy consumption of alcohol. Other drugs may causegross abnormalities, such as the defects arising from thalidomide. Apregnant woman should, thus, avoid taking any medication without firstconsulting with her physician.Injury to a pregnant woman or to a fetus is another cause ofcongenital anomalies. For example, limbs may be malformed if anintrauterine device (IUD) is not removed early in the pregnancy.Smoking during pregnancy is implicated as one factor in the incidenceof abnormally low birth weight in babies, and malnutrition seems to berelated to a high incidence of congenital anomalies. The age of thewoman at the time she conceives can also be a factor. For example,Down's syndrome occurs more frequently when conception occurs after theage of about 35.Congenital anomalies have also been attributed to the effects of X-ray examination made early in a pregnancy.Question: Is it possible to diagnose congenital anomalies in a fetus?Yes. The most reliable method of diagnosis is to examine asample of fluid from the amniotic sac, sometime between the fifteenthand eighteenth week of pregnancy. The sample is obtained byamniocentesis. Microscopic examination of the cells in the fluid thenreveals possible abnormalities in the chromosomes. Congenital anomaliesthat can be diagnosed in this way include Down's syndrome, spinabifida, and anencephaly. Sometimes, the diagnostic use of ultrasoundcan detect abnormalities of the skull or spine.Question: Can congenital anomalies be treated?Treatment depends entirely on the nature and severity of thecondition. Many anomalies can be treated, but for some there is notreatment.Question: In what circumstances might abortion be considered?Abortion might be considered if serious fetal disorders arefound early in a pregnancy. The decision to abort rests with theparents and is made after considering the advice of the physician andspecialists on the nature of the disorder and the consequences ofabortion.Question: Are congenital anomalies more likely to occur in first-born babies?No. Statistics disprove this commonly held belief.Question: Does a congenital anomaly in a baby indicate that subsequent babies will be similarly affected?Genetic counseling deals with such questions. In many cases itis possible to state risks numerically. For example, a baby withcongenital heart disease is likely to be followed by a similarlyaffected child in 2 percent of pregnancies instead of the ordinary riskof one percent. Spina bifida occurs in about 1 child in every 1,500,but if a previous child was born with the condition, there is about a1-in-20 to 1-in-50 chance that it will occur in a later child. Article Tags: Congenital Anomalies, Down's Syndrome, Heart Disease, Spina Bifida, Genetic Disorders