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Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy
Author(s) -
Cartolano Rosa,
Guerneri Silvana,
Fogliani Roberto,
Galimberti Andrea,
Nicolini Umberto
Publication year - 1993
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.1970131110
Subject(s) - trisomy , prenatal diagnosis , aneuploidy , obstetrics , fetus , medicine , cell free fetal dna , biopsy , amniocentesis , pregnancy , gynecology , genetics , pathology , biology , chromosome , gene
Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42‐year‐old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.