2008 Barcelona - European Society of Human Genetics

Concurrent Sessions
317,503 single nucleotide polymorphisms (SNPs) was carried out in a
sample of 986 individuals from Vis island, Croatia, in which about 100
quantitative traits were (QT) measured . Pedigree-based genome-wide
QT locus association method was used .
Results. SUA was strongly associated with three SNPs (P3mm before 14 weeks or >6mm thereafter, ultrasound
abnormalities (excluding single soft markers), from families
with a previous chromosome abnormality (excluding common trisomies)
and to follow up abnormal QF-PCR results. During the first eight
months of service, 1502 AF and 628 CVS were received . 26% of AF
and 44 .9% of CVS were karyotyped . 8% of AF and 22% of CVS were
abnormal . In the groups targeted for karyotyping, 3 .6% of AF and 7 .1%
of CVS had non-trisomy abnormalities . There was one discrepant QF-
PCR (trisomy 13)/karyotype (normal) case due to mosaicism (possibly
confined to the placenta). The first year of this innovative approach to
prenatal diagnosis will be discussed .
c09.2
chromosomal abnormalities detectable by prenatal screenings
cover only half of the significant fetal chromosomopathy: an
evaluation based on 115’576 invasive prenatal diagnoses
F. Maggi 1 , F. R. Grati 1 , A. Barlocco 1 , M. Di Lernia 2 , B. Grimi 1 , S. De Toffol 1 , G.
Frascoli 1 , A. M. Di Meco 1 , R. Liuti 1 , S. Milani 1 , A. Trotta 1 , S. Babucci 3 , F. Dulcetti
1 , A. M. Ruggeri 1 , G. Simoni 1 ;
1 Research and Development, Cytogenetics and Molecular Biology, TOMA Laboratory,
Busto Arsizio, Italy, 2 Clinical Chemistry and Tossicology, TOMA Laboratory,
Busto Arsizio, Italy, 3 Clinical Chemistry and Tossicology, Cytogenetics and
Molecular Biology, TOMA Laboratory, Busto Arsizio, Italy.
A homogeneous survey of 115’576 prenatal diagnoses have been collected
from our laboratory during the last 14 years: 84’847 on amniotic
fluid (AF) and 30’729 on chorionic villi (CV). This experience could be
a source to draw practical and useful information since it includes a
great number of women