MISDIAGNOSIS OF HOMOZYGOUS ALPHA-THALASSAEMIA 1 MAY OCCUR IF POLYMERASE CHAIN REACTION ALONE IS USED IN PRENATAL DIAGNOSIS

• Published in: Prenatal diagnosis Vol. 17; no. 6; pp. 505 - 509
• Main Authors: KO, TSANG-MING, TSENG, LI-HUI, HWA, HSIAO-LIN, HSU, PI-MEI, LI, SHWU-FAN, CHU, JO-YU, LU, PEI-JEN, LEE, TZU-YAO, CHUANG, SOU-MING
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.06.1997; Wiley
• Subjects: alpha-thalassaemia; alpha-Thalassemia - diagnosis; alpha-Thalassemia - genetics; Biological and medical sciences; Diagnostic Errors; Female; Gene Deletion; Globins - genetics; Gynecology. Andrology. Obstetrics; Homozygote; Humans; Management. Prenatal diagnosis; Medical sciences; misdiagnosis; Multigene Family; Polymerase Chain Reaction; Pregnancy. Fetus. Placenta; prenatal diagnosis; Prenatal Diagnosis - methods; Reproducibility of Results; Retrospective Studies; Sensitivity and Specificity; Human; Prenatal; Polymerase chain reaction; Hemoglobinopathy; Fetal diseases; Sensitivity; Hemolytic anemia; α-Thalassemia; Error; Hemopathy; Diagnosis; Genetic disease

The polymerase chain reaction (PCR) is a quite sensitive diagnostic tool but its specificity may be hampered because of contamination of foreign DNA. In order to determine the diagnostic accuracy of PCR in diseases due to gross gene deletion, a total of 180 fetuses at risk of homozygous South‐East A...