Prenatal diagnosis of enzyme defects

Article Abstract:

Approximately 250 enzyme deficiencies have been associated with 750 or more human recessive disorders, which are inherited diseases carried by a recessive gene. One hundred of these disorders can be diagnosed prenatally (before birth), and this number should increase with the development of methods to detect enzyme defects in the fetus. However, enzyme testing of fetal tissue may be limited by absence of the enzyme to be tested in the available tissue, such as cells from the amniotic fluid. The enzyme may be tissue-specific, or present in only certain types of tissue. Also, the enzyme may be present only at certain stages of fetal development. These problems can be avoided by the use of recombinant DNA technology, which detects defects in DNA contained within the genome. However, DNA methodology has been used to evaluate only a small number of enzyme defects. A wider use of DNA analysis will depend on the identification of genes that code for enzymes, and identification of the genetic basis of enzyme deficiency disorders. The various enzyme defects that can be detected prenatally are reviewed. In addition, the authors discuss the relationship of the method of detection to: the molecular basis of the enzyme defect; the site of action of the enzyme at the tissue and cell level; and the type of fetal tissue sampling. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Enzymes, Recombinant DNA, Genetic disorders

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Bowel abnormalities in the fetus - correlation of prenatal ultrasonographic findings with outcome

Article Abstract:

Ultrasounds performed midway through pregnancy and soon after delivery appear to be effective in detecting abnormalities in the small intestine but not in the large intestine. Doctors detected 89 abnormalities along the intestinal tract out of 15,090 fetuses scanned midway through pregnancy or later and after birth. All of the small intestinal abnormalities but only 7.7% of the large intestinal abnormalities confirmed at birth were identified on prenatal ultrasounds. Indications of small intestinal blockage included small intestines that were excessively active and those that widened over time.

Evaluation, Abnormalities, Ultrasound imaging, Intestines, Fetal diseases

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