Περίληψη:
The presence of maternal cells in fetal samples constitutes a serious
potential source for prenatal misdiagnosis, Here we present our approach
for detecting maternal cell contamination (MCC) at prenatal diagnosis
for eight monogenic disorders (autosomal recessive: beta-thalassaemia,
sickle-cell anaemia, cystic fibrosis, prelingual deafness’ autosomal
dominant: achondroplasia, Huntington disease, myotonic dystrophy.
neurofibromatosis type 1: X-linked: spinobulbar muscular atrophy). Our
aim was to apply a simple and low-cost approach. which would easily and
accurately provide information on the fetal tissue MCC status. MCC
testing was applied to cases of recessive inheritance adhere the primary
mutation screening of the fetus revealed the presence of the maternal
mutation. to cases concerning dominant inheritance and to cases of
multiple gestation, The potential presence of maternal cells was
determined by the amplification of the 3’-HVR/APO B. D1S80, THO1 and
VNTRI of vWf polymorphic loci, which have previously demonstrated high
heterozygosity in Caucasians. Among 135 prenatal diagnoses. 44 finally
needed to be tested for MCC (32.6%). MCC was detected in four cases,
where DNA was isolated directly from chorionic villi samples (CVS). and
in one case with DNA isolated directly from amniotic fluid (AF). In
almost 90%, of cases a simple test of one polymorphic locus provided
sufficient information about MCC. The choice of the appropriate locus is
therefore essential, while the simultaneous screening of both parents
provides the means for distinguishing non-informative sites about MCC.
Copyright (C) 2002 John Wiley Sons, Ltd.
Συγγραφείς:
Antoniadi, T
Yapijakis, C
Kaminopetros, P
Makatsoris, C and
Velissariou, V
Vassilopoulos, D
Petersen, MB
