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pubmed:otherAbstract |
PIP: Improved testing procedures now allow prenatal screening for a wide range of congenital defects, including cystic fibrosis and muscular dystrophy. An emerging technique also allows diagnosis of congenital anomalies during the pre-implantation stage of in vitro fertilization. Thus, clinicians need an established criteria to use as a guide when counseling parents about what prenatal testing is possible, feasible, and desirable. For example, there are limits to prenatal testing for conditions like mutations in the breast cancer gene because affected individuals do not necessary develop the condition and a cure may be found by the time the condition develops. It is even questionable if parents should be given this information until the child reaches an appropriate age. One approach to development of guidelines is to classify congenital abnormalities according to severity, age of onset, and type (structural-functional versus mental). This system reveals anomalies that are clearly lethal, lead to moderate or severe disability with little or no prospect of improvement or cure, are characterized by early onset, and/or involve obvious mental retardation. This approach is particularly relevant in cases of trisomy 21, and progressively invasive screening techniques are available to detect this most common pattern of malformation in humans.
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