Prenatal diagnosis of enzyme defects - an update

Article Abstract:

Several inherited enzyme defects can now be diagnosed prenatally, or before birth. New methods of prenatal diagnosis include sampling of the chorionic villus, the outer portion of the membranes surrounding the fetus; early amniocentesis, the removal and analysis of fluid surrounding the fetus; analysis of fetal cells in the circulation of the mother; and analysis of DNA, the genetic material of the cell. In addition, in cases of in vitro fertilization, genetic defects in the embryo can be diagnosed before implantation to the uterus. These new techniques of prenatal diagnosis are discussed in detail. A small number of enzyme defects can be treated in utero (while the fetus is still in the uterus). Fetal treatment of enzyme defects can sometimes improve fetal outcome and provide an alternative to termination of the pregnancy. Fetal treatment may involve vitamin supplementation, diet control, or drug therapy. The earlier the diagnosis and onset of treatment, the more effective the therapy. For example, if adrenal hyperplasia (the excessive proliferation of adrenal gland cells) is diagnosed in the first trimester, drugs can be used to prevent the masculinization of female genital organs. However, one study showed that only five of 15 infants treated prenatally, had normal genital organs. Many factors can influence the effectiveness of fetal treatment, and the biochemical events in fetal development require further study. Additional enzyme defects that can now be diagnosed prenatally are discussed. (Consumer Summary produced by Reliance Medical Information, Inc.)

Methods, Prevention, Birth defects, Prenatal diagnosis, Enzymatic analysis

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Ultrafiltration for intractable ascites after liver transplantation

Article Abstract:

Ascites (accumulation of fluid in the abdominal cavity) can be a consequence of obstruction of veins within the liver, as well as to alterations in the way the body handles sodium. A case is reported of a 5.7-year-old boy who continued to have severe intractable ascites despite treatment with a liver transplant. Signs of transplant rejection accompanied return of ascites after surgery, and this was treated with high-dose steroids. The volume of ascitic fluid loss increased, and a significant level of blood-derived proteins, including those needed for proper blood clotting, were lost with it. The ascitic fluids were reinfused through the femoral (thigh) vein, which corrected the clotting problem, but the ascites volume was the same. After 18 days, ultrafiltration with readily available equipment was used to retain proteins by concentrating them on a membrane. The protein concentrate was then reinfused while excess filtered fluid was discarded. The rate of protein infusion was decreased as the abdominal girth decreased from 80 to 65 centimeters over a six-day period. Ascitic drainage was stopped two days later. The report indicates that this method of ultrafiltration of ascitic fluid is simple and effective. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Care and treatment, Ultrafiltration

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Fetal ascites: an unusual presentation of Niemann-Pick disease type C

Article Abstract:

Niemann-Pick disease type C is a bodily storage disorder characterized by abnormal cholesterol metabolism. Two cases are reported that describe, for the first time, the accumulation of serous fluid in the abdominal cavity (fetal ascites) of developing fetuses associated with Niemann-Pick disease type C. Ultrasound scan during pregnancy detected the fetal ascites in both cases. In the first case, the disease was confirmed when bone marrow contained distinctive storage cells. No special treatment was given and the ascites cleared up over 12 weeks. Further development was considered normal. In the second case, the disease was suspected but could not be confirmed by screening the bone marrow for characteristic storage cells. This patient died after 19 days from apparent liver failure. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Ultrasound imaging

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