Fetal cells in maternal blood: NIFTY clinical trial interim analysis

✍ Scribed by Diana W. Bianchi; Joe Leigh Simpson; Laird G. Jackson; Mark I. Evans; Sherman Elias; Wolfgang Holzgreve; Lisa M. Sullivan; Felix de la Cruz

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 115 KB
• Volume: 19
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199910)19:10<994::aid-pd662>3.0.co;2-h

✦ Synopsis

Several prenatal diagnoses on fetuses at risk for MPS IIIA disease have been performed in our laboratory by measuring sulphamidase activity in amniocytes or in chorionic villi using the radioactive assay (Di Natale et al., 1993), and more recently the fluorimetric assay (Karpova et al., 1996). In both cases, however, a difficulty may arise in the presence of very low normal values in control samples. With the cloning and the sequencing of the human sulphamidase gene and the elucidation of mutations causing sulphamidase deficiency, it is now possible to perform, at least in the characterized families, prenatal diagnosis using molecular analysis. This certainly avoids the problems found when using enzyme measurements. Accurate and reliable diagnoses either at biochemical or molecular level can occasionally be influenced by the presence of some contaminating maternal material in the chorionic villi or maternal cells in amniotic fluid. Such a contamination, however, can be excluded through methods based on DNA polymorphisms (Budowle et al., 1990). We did not perform such analysis since the fetus resulted to be affected (homozygous for the S66W alteration). In conclusion, we have shown that prenatal diagnosis based on mutation analysis for Sanfilippo type A syndrome is possible, fast and reliable.