Lipid profile and lipid oxidative modification parameters in the first trimester of high- risk pregnancies - possibilities for preeclampsia prediction.

OBJECTIVES: The goal of this study was to investigate metabolic changes in lipids and oxidative stress parameters in the first trimester of pregnancy with the more specific aim of estimating the significance and strength of researched parameters in the prediction of preeclampsia. DESIGN AND METHODS: The study included 87 high-risk pregnant (HRG) female subjects, 14 with developed preeclampsia (PEC) and 43 healthy pregnant female subjects matched for gestational age (CG). Thiobarbituric acid-reactive substances (TBARS) concentration, lipid hydroperoxides (LOOH), pro-oxidant antioxidant balance (PAB) and total oxidative status (TOS) were measured as oxidative stress markers, while total antioxidant capacity (TAC) was measured as an antioxidative defense parameter. The Atherogenic Index of Plasma (AIP) was calculated as the base 10 logarithm of the ratio of the plasma concentration of triglycerides (TG) to the plasma concentration of high-density lipoprotein cholesterol (HDL-C), with each concentration expressed in mmol/L. RESULTS: The results have shown that lipid indices, especially AIP, were significantly higher in the first trimester of HRG (p < 0.001) and PEC (p < 0.001). Oxidative stress parameters were significantlly higher, while TAC was significantly lower in HRG vs. CG [0.7 ± 0.15 vs 1.1 ± 0.16; (p < 0.001)] and in PEC [0.6 ± 0.12 vs 1.1 ± 0.16; (p < 0.001)] vs. CG. Also, in the HRG, results have shown an independent association of AIP with the preeclampsia development (p < 0.05), while placental growth factor did not show the expected level of significance (p = 0.648). Analysis of the Receiver Operating Characteristics (ROC) curves indicated that certain parameters included in the research model have very good diagnostic accuracy for preeclampsia (AUC = 0.856). CONCLUSIONS: AIP is associated with high-risk pregnancies. Furthermore, our results firmly underscored AIP as a potential marker for preeclampsia prediction.

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings.

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM_ 001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.