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  • Title: First trimester diagnosis of beta-thalassaemia in a twin pregnancy.
    Author: Monni G, Rosatelli C, Falchi AM, Scalas MT, Addis M, Maccioni L, di Tucci A, Tuveri T, Cao A.
    Journal: Prenat Diagn; 1986; 6(1):63-8. PubMed ID: 3952059.
    Abstract:
    This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous beta 0-thalassaemia (beta 0-39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the beta-39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the alpha-globin gene provided useful genetic markers for twin differentiation.
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