TY - JOUR
T1 - Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins
AU - Fassihi, H.
AU - Ashton, G. H.S.
AU - Denyer, J.
AU - Mellerio, J. E.
AU - Mason, G.
AU - McGrath, John A.
PY - 2005/3
Y1 - 2005/3
N2 - Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.
AB - Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.
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U2 - 10.1111/j.1365-2230.2004.01704.x
DO - 10.1111/j.1365-2230.2004.01704.x
M3 - Article
C2 - 15725250
AN - SCOPUS:15044351027
SN - 0307-6938
VL - 30
SP - 180
EP - 182
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
IS - 2
ER -