Premium
Pseudomosaicism for trisomy 13: Three case reports
Author(s) -
Malin Joanne,
Singer Niecee,
Warburtons Dorothy,
Kardon Natalie,
Kim Hyon J.
Publication year - 1987
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.1970070604
Subject(s) - trisomy , prenatal diagnosis , genetic counseling , aneuploidy , abnormality , medicine , down syndrome , obstetrics , chromosomal abnormality , pregnancy , fetus , pediatrics , karyotype , gynecology , chromosome , genetics , psychiatry , biology , gene
Pseudomosaicism is of particular concern in prenatal diagnosis when it involves mosaicism for a cytogenetic abnormality associated with a clinical syndrome which is compatible with postnatal life, such as trisomies for chromosomes 13, 18, and 21. The lack of data regarding the outcome of pregnancies involving these specific kinds of pseudomosaicism makes genetic counselling difficult. Three cases of prenatal diagnosis of pseudomosaicism for trisomy 13, each of which had a normal outcome, will be presented (Tables 1 and 2). The three main areas for consideration are: (1) the genetic counselling issues, (2) the additional prenatal diagnostic options available to evaluate the status of the fetus in an attempt to identify some of the clinical features of trisomy 13, and (3) the outcome of the pregnancies.