[Impact of inherited thrombophilia on the development of some pregnancy complications].

Aim: To assess the clinical significance of inherited thrombophilia [IT] for the development of some pregnancy complications.

Material And Methods: The incidence of the following factors was studied in 97 pregnant women with pregnancy complications and in 103 controls: R506Q mutation encoding Factor V Leiden [FVL] synthesis, Prothrombin G20210A mutation, T677 methylenetetrahydropholate reductase mutation [MTHFR], 4G/4G polymorphism of the plasminogen activator inhibitor [PAI 4G/4G]. Among 97 patients in the group studied 39 had early onset severe preeclampsia [PE], 14--placental abruption [AP] without PE, 18--intrauterine growth restriction [IUGR] without PE, 12--stillbirth [SB] without PE, 14--habitual spontaneous abortions [HSA].

[First trimester nuchal translucency thickness in normal fetuses in the Bulgarian population].

Nuchal translucency (NT) measurement between 11-14 weeks of gestation is an effective method of ultrasound screening for chromosomal fetal anomalies. The aim of the present study is to construct normal reference ranges of NT thickness for the Bulgarian population. The choice of cut-off NT thickness above which an invasive procedure should be offered is discussed.

[Ultrasound diagnosis of Meckel-Gruber syndrome at 13 weeks of gestation in families at risk--a case report and literature review].

Meckel-Gruber syndrome (MGS) is a lethal, rare, autosomal recessive condition manifested by clinical and genetical heterogenicity. The syndrome is characterized by the triad: occipital meningo-encephalocele, cystic displastic kidneys and postaxial polidactyly. The diagnosis is suspected by ultrasound and in families at risk of reccurrence of the syndrome it is made in the late first trimester of pregnancy.

[Second trimester sonographic screening for Down's syndrome and other chromosomal abnormalities].

Aim: To assess the effectiveness of second trimester sonographic screening for Down syndrome [DS] and other chromosomal abnormalities [ChrA].

Materials And Methods: In 1157 singleton pregnancies (15-21 weeks of gestation), including 18 with ChrA (13-DS, 5-other) an expert level detailed sonographic study was performed. The following parameters were analyzed: incidence and type of abnormal sonographic findings in chromosomally normal and abnormal fetuses, sonographic screening sensitivity and specificity (for DS and for other ChrA), positive predictive value [PPV] for DS of the most frequent sonographic markers, negative predictive value [NPV] of the normal genetic sonogram.