By Robert M. Arensman
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What’s new in prenatal screening and diagnosis? Prim Care Clin Office Pract 2004; 31(3):564. Prenatal Screening Maternal Serum Analytes All women should be offered serum analyte screening between 15 and 21 weeks gestation. Maternal serum alpha-fetoprotein (MSAFP) concentrations are increased in many abnormal fetal conditions including open neural tube defects, abdominal wall defects and defects of the genitourinary and gastrointestinal systems. Low MSAFP levels are observed in trisomies 18 and 21.
Thus, the primary genetic indication is evaluation of mosaic results found on amniocentesis or CVS. Additionally, PUBS is used for assessment of fetal anemia, infection and thrombocytopenia. This procedure is usually done between 18 and 20 weeks of gestation. The risk of miscarriage is about 2%. Results of analysis are usually available within 2-3 days. Fetal Sampling On rare occasions, analysis of other fetal tissues may be required. Conditions in which the genetic defect is not expressed in the amniotic fluid or fetal blood can be discovered by sampling from the skin, muscle, kidney and liver.
In utero erythrocyte transfusion can improve the neonatal outcome for fetuses with hydrops fetalis from many causes. Some congenital anomalies have debilitating or lethal consequences in the fetus or neonate. The allure of fetal surgery is the possibility of interrupting the progression of an otherwise devastating disease process. ). Although no large series have proven any long-term benefits, work continues (and should continue at a few centers with close supervision) on the use of fetal surgery for: 1.