[Complex biochemical and molecular approach to prenatal diagnosis of mucoviscidosis].
Prenatal diagnosis of 62 cases of cystic fibrosis was performed in high-risk families at 18-21 gestational weeks using biochemical and molecular tests. The diagnosis was ruled out in 42 and confirmed in 20 cases. The incidence of false-positive results was 8.3% (5 of 62) and that of false-negative results 3.7% (2 of 62). Reliability of prenatal diagnosis in concomitant use of biochemical and molecular tests was over 95%. Advantages of prenatal diagnosis of cystic fibrosis using DNA probes and requirements for its wider adoption in the first trimester are discussed.
Baranov
V S
VS
Gorbunova
V N
VN
Ivashchenko
T E
TE
Aseev
M V
MV
Prozorova
M V
MV
Mikhaĭlov
A V
AV
D000135:Acid Phosphatase / Q000737:chemistry; D000626:Aminopeptidases / Q000737:chemistry; D000649:Amniocentesis / Q000379:methods*; D000653:Amniotic Fluid / Q000737:chemistry / Q000201:enzymology*; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D004247:DNA / Q000737:chemistry; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D005723:gamma-Glutamyltransferase / Q000737:chemistry
D004247:DNA; D005723:gamma-Glutamyltransferase; D000135:Acid Phosphatase; D000626:Aminopeptidases
Kompleksnyĭ biokhimicheskiĭ i molekuliarnyĭ podkhod v prenatal'noĭ diagnostike mukovistsidoza.