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First trimester diagnosis of β‐thalassaemia in a twin pregnancy
Author(s) -
Monni Giovanni,
Rosatelli Cristina,
Falchi Angela M.,
Scalas Maria T.,
Addis Maria,
Maccioni Liliana,
Tucci Anna Di,
Tuveri Teresa,
Cao Antonio
Publication year - 1986
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970060109
Subject(s) - pregnancy , prenatal diagnosis , obstetrics , medicine , first trimester , twin pregnancy , second trimester , hemoglobinopathy , gynecology , genetics , biology , fetus , hemolytic anemia
This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous β°−thalassaemia (β°−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 β−39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the α‐globin gene provided useful genetic markers for twin differentiation.