2009 Vienna - European Society of Human Genetics

Prenatal and perinatal genetics
and Gynecology, Ankara, Turkey.
First- and second-trimester ultrasonographic (USG) findings of fetal
chromosome abnormalities include structural abnormalities and/or sonographic
markers of fetal aneuploidy. Sonographic markers of fetal
aneuploidy may be seen in normal fetuses and are often transient.
We aimed to evaluate the importance of USG findings, in estimating
cytogenetic abnormality risks in low aneuploidy risk pregnancies. We
reviewed a number of most commonly accepted markers and structural
abnormalities on pregnant women with low risk who underwent
invasive prenatal diagnostic tests for USG abnormality in the period
from January 2002 to December 2008. Prenatal genetic diagnosis of
68 cordocenteses, 42 chorionic villus samples (CVS) and 1688 amniocenteses
(AS) were performed. In 179 of all cases (9.95%), cytogenetic
analysis was recommended because of USG abnormality. 82
patients had structural abnormalities and 97 had sonographic markers.
We detected 10 aneuploidies in fetuses with structural abnormalities
and 3 aneuploidies in fetuses with sonographic markers, as expected.
We concluded that, although the presence or absence of sonografic
markers can substantially modify the risk of fetal aneuploidy, structural
abnormalities inevitably have high risk for aneuplodies.
P05.13
Prenatal Detection of Pericentric inversion of chromosome 9 in
5358 Referrals at a Reference Genetic center
E. Karaca, E. Pariltay, O. Cogulu, H. Akin, F. Ozkinay;
Ege University, Faculty of Medicine, Izmir, Turkey.
Pericentric inversion of chromosome 9 is a structural chromosomal
variant which usually has no phenotypic effect and occurs 1.98 % in
human population. In this study, we report on the incidence of pericentric
inversions of chromosome 9, the indications of those results,
and discuss the data in the light of the literature. We have reviewed
the results of a total of 5358 pregnant women who underwent invasive
prenatal procedures between January 1998 and December 2008.
Inversion of chromosome 9 was detected in 60 of them (1.1%). The
most common indications were advanced maternal age (AMA) [n: 27,
(45%)], high risk result on triple test (HRRTT) [n: 14, (24%)], anomalies
in USG examination [n: 10, (16%)], increased nuchal translucency [n:
4, (7%)], and other reasons in 5 (8%)[n: 5, (8%)]. In conclusion the
incidence of prenatally detected pericentric inversion of chromosome
9 is compatible with the incidence of general population.
P05.14
Leptin gene (tttc) n microsatellite polymorphism in preeclampsia
and HELLP syndrome
B. Nagy, T. Varkonyi, L. Lazar, P. Hupuczi, N. G. Than, J. Rigo Jr;
1st Dept. of Obstetrics and Gynecology, Semmelweis University, Budapest,
Hungary.
Genetic variation on the leptin gene (LEP) influences susceptibility to
obesity. A study showed correlation between the length of the microsatellite
on the LEP gene and pre-eclampsia. We decided to compare the
tetranucleotide repeat (TTTC) n polymorphism in the 3’-flanking region
in the leptin gene on DNA samples of patients with pre-eclampsia and
HELLP syndrome. Blood samples were collected from normal pregnant
(n=71), pre-eclamptic (n=64) and HELLP (n=69) syndrome patients.
Fluorescent PCR and DNA fragment analyses was performed from
isolated DNA. The electrophoretograms were evaluated and patients
were assigned to two groups, class I low (