Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia.
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.
Schuetzle
Marie N
MN
Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA. schuetzle.marie@mayo.edu
Uphoff
Timothy S
TS
Hatten
Bonnie A
BA
Dawson
D Brian
DB
D000032:Abortion, Therapeutic; D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D018895:Microsatellite Repeats; D010922:Placenta Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics