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Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia
Author(s) -
Schuetzle Marie N.,
Uphoff Timothy S.,
Hatten Bonnie A.,
Dawson D. Brian
Publication year - 2007
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.1879
Subject(s) - microsatellite , multiplex ligation dependent probe amplification , prenatal diagnosis , angelman syndrome , microsatellite instability , multiplex , polymerase chain reaction , biology , genetics , medicine , microbiology and biotechnology , pregnancy , fetus , gene , allele , exon
Abstract Objective To demonstrate a role for microsatellite analysis in the evaluation of prenatal cases with possible placental mesenchymal dysplasia (PMD). Methods We present a case report in which several molecular analyses of amniocytes and products of conception were used in combination with cytogenetic and ultrasound studies to evaluate a pregnancy with a clinical suspicion of PMD. A combination of Southern blotting analysis, methylation‐sensitive polymerase chain reaction (PCR) and multiplex ligation‐dependent probe amplification (MLPA) was utilized to evaluate methylation patterns in the Beckwith–Wiedemann syndrome (BWS) and Prader–Willi/Angelman syndrome (PW/AS) critical regions. A series of microsatellite markers were used to evaluate the possibility of an androgenetic cell line. Results Methylation studies performed for the BWS and PW/AS critical regions were abnormal and consistent with a molecular diagnosis of BWS and Angelman syndrome. Further studies of amniocytes using microsatellite markers identified androgenetic and biparental cell lines in approximately a 10:1 ratio, respectively. Conclusions Prenatal ultrasonography, karyotyping and molecular genetic evaluation for BWS alone were not sufficient to identify the underlying etiology of PMD in this case. The androgenetic cell line was only identified after microsatellite analysis. Copyright © 2007 John Wiley & Sons, Ltd.