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[Rapid prenatal diagnosis for thalassemia].

Jiangyue Liu

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Abstract

By means of polymerase chain reaction (PCR), prenatal diagnoses were successfully made in 20 fetuses at risk for beta-thalassemia homozygotes and 2 at risk for Bart's hydrops fetalis. Six pregnancies with homozygotes or double heterozygotes of beta-thalassemia were therapeutically terminated. Ten fetuses were predicted to be beta-thalassemia heterozygotes and 4 were normal. Hydrops fetalis was excluded in two fetuses. The predictions have so far been confirmed after delivery or therapeutic abortion, and no discrepancy was found. The advantages of this technique are discussed.

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What this paper is about

By means of polymerase chain reaction (PCR), prenatal diagnoses were successfully made in 20 fetuses at risk for beta-thalassemia homozygotes and 2 at risk for Bart's hydrops fetalis. Six pregnancies with homozygotes or double heterozygotes of beta-thalassemia were therapeutically terminated. Ten fetuses were predicted to be beta-thalassemia heterozygotes and 4 were normal. Hydrops fetalis was excluded in two fetuses. The predictions have so far been confirmed after delivery or therapeutic abortion, and no discrepancy was found. The advantages of this technique are discussed.

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Available abstract

By means of polymerase chain reaction (PCR), prenatal diagnoses were successfully made in 20 fetuses at risk for beta-thalassemia homozygotes and 2 at risk for Bart's hydrops fetalis. Six pregnancies with homozygotes or double heterozygotes of beta-thalassemia were therapeutically terminated. Ten fetuses were predicted to be beta-thalassemia heterozygotes and 4 were normal. Hydrops fetalis was excluded in two fetuses. The predictions have so far been confirmed after delivery or therapeutic abortion, and no discrepancy was found. The advantages of this technique are discussed.

Key concepts: Hydrops fetalis, Prenatal diagnosis, Thalassemia, Fetus, Heterozygote advantage, Medicine, Beta thalassemia, Obstetrics

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