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Updated: Aug 10, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
[Prenatal gene diagnosis of alpha-thalassemias]
1Third Affiliated Hospital, Sun Yet-sen University of Medical Sciences, Guangzhou.
Objective:
To study the value of polymerase chain reaction (PCR) in prenatal diagnosis of alpha thalassemias.
Methods:
Amniotic fluid prenatal gene diagnosis with polymerase chain reaction was carried out on eleven fetuses whose parents are both heterozygotes with alpha-globin gene deficiency. A DNA fragment of 224bp in the production means normal alpha-globin gene sequence, while a 630bp fragment indicated the alpha-globin gene deficiency. Both 224bp and 630bp fragments in the same sample means heterozygote.
Results:
Three of the 11 fetuses (one pregnancy was twin) were with normal alpha-globin gene sequence, while 4 were homozygotes and the other 4 were heterozygotes. For the 3 fetuses with ascitic fluid under ultrasound examination, 2 were homozygotes and the other one was heterozygote by gene diagnosis. Two of the 4 homozygotes from induced abortion were typical Bart's syndrome, one was edema in the whole body and the other one with short limbs and abdominal hernia.
Conclusion:
The method of PCR in prenatal diagnoses for detection of alpha-thalassemias is simple, accurate and rapid.
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