Prenatal diagnosis policy without routine amniocentesis in pregnancies with a positive family history for neural tube defects.
The recurrence risk for neural tube defects in pregnancies of women with a family history of neural tube defects greatly exceeds the general population risk. In these high risk pregnancies, we used a prenatal diagnostic method differing from that usually employed, relying mainly on the results of maternal serum alpha-fetoprotein (MSAFP) and ultrasound examination, without routine amniocentesis. During the 6 years reviewed in this study, this method was applied in 539 pregnancies. Of a total of 20 neural tube defects, 19 were detected using this combination of MSAFP, ultrasound, and selective amniocentesis, and the authors estimate that about 8-10 spontaneous abortions were avoided because only 28 amniocenteses were carried out instead of 539. The risk of recurrence was found to be lower than that experienced earlier.
D000649:Amniocentesis; D005260:Female; D006801:Humans; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins