Cervical length at 11-40 weeks: unconditional and conditional longitudinal reference ranges.

Introduction: Our aim was to establish unconditional and conditional longitudinal reference ranges for cervical length throughout pregnancy.

Material And Methods: Prospective longitudinal study. In singleton pregnancies repeated cervical length measurements were carried out by transvaginal ultrasound throughout gestation.

Maternal serum osteocalcin at 11-14 weeks of gestation in gestational diabetes mellitus.

Background: Recent studies support that osteocalcin (OC), apart from its skeletal role, is implicated in glucose homoeostasis. Aims of this study were to examine the first-trimester maternal serum concentrations of OC in pregnancies that developed gestational diabetes mellitus (GDM) and to create a first-trimester prediction model for GDM.

Design: Case-control study in a prospective cohort of pregnant women.

Towards detecting open spina bifida in the first trimester: the examination of the posterior brain.

Introduction: Our aim was to examine the value of indirect signs of open spina bifida in the mid-sagittal view of the posterior brain at the 11-13 weeks' ultrasound examination and to summarize the current evidence for the first-trimester diagnosis of spina bifida.

Methods: This was a prospective study in routine obstetric population. The presence of four almost parallel lines (four-line view) in the posterior brain was recorded.

Elevated placental growth factor concentrations at 11-14 weeks of gestation to predict gestational diabetes mellitus.

Objective: To examine maternal serum concentrations of placental growth factor (PlGF) at 11-14 gestational weeks in pregnancies that developed gestational diabetes mellitus (GDM) and to create first trimester prediction models for GDM.

Methods: Case control study including 40 GDM cases and 94 controls. PlGF, biophysical and biochemical markers and maternal-pregnancy characteristics were analyzed.

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.

Background: Partial trisomy of the long arm of chromosome 1 (1q) is an exceptionally rare chromosomal abnormality and most of the prenatally diagnosed cases are associated with either complete (q11-qter) or large (q21-qter) duplications with pre- or perinatal demise of all reported cases. The most common sonographic findings associated with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal and cardiac abnormalities, craniofacial dysmorphism, and limb deformities. However, there is a wide spectrum of clinical manifestations due to the great variability in the extent of the duplication size and the possible contribution of additional genetic rearrangements in the final phenotype.

Reproducibility study of fetal 3-D volumetry in the first trimester: effect of fetal size and rotational angle of VOCAL software.

Intra- and inter-observer reproducibility of fetal volume measurement by 3-D ultrasound scan (using VOCAL [Virtual Organ Computer-Aided Analysis] software) in 27 fetuses at 7 to 13 wk was studied. For intra-observer variability, the mean difference (MD) and 95% limits of agreement (95% LOA) at 12°, 18° and 30° were MD(12) = 0.097, 95% LOA(12) = -0.

Fetal volume at 11-14 gestational weeks: reference ranges and association with first trimester biochemical and biophysical markers.

Aims: To establish reference ranges for fetal volume (FV) measured by three-dimensional ultrasound (3D-US) at 11-14 weeks of gestation and to examine the possible association of FV with maternal/pregnancy characteristics and biochemical parameters.

Methods: Prospective observational study on 240 fetuses at 11-14 weeks. FV was measured by 3D-US using Virtual Organ Computer-Aided Analysis.

Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights.

The noninvasive prenatal diagnosis of trisomy 21 (Down syndrome) is an actively researched area of prenatal medicine, as this is the most common aneuploidy compatible with life and a major cause of mental retardation. The isolation of intact fetal cells, and most importantly, the successful detection of fetal-origin nucleic acids (cell-free fetal DNA and RNA), in maternal plasma even from the early stages of pregnancy has inspired scientists to develop discriminative genetic markers for the prenatal detection of aneuploidy. In the near future, the development of epigenetic fetal-specific markers will possibly allow the universal application of a cell-free fetal DNA-based diagnostic test regardless of the gender of the fetus or its polymorphic status.

Maternal serum placental growth hormone at 11-13 weeks' gestation in pregnancies delivering small for gestational age neonates.

Objective: To investigate whether the maternal serum concentration of human placental growth hormone (PGH) at 11-13 weeks' gestation is altered in pregnancies that deliver small for gestational age (SGA) neonates.

Methods: Maternal serum concentration of PGH was measured in 60 cases that subsequently delivered SGA neonates in the absence of preeclampsia and compared to 120 non-SGA controls.

Results: In the SGA group, compared to the non-SGA group, there was no significant difference in the median PGH MoM (0.

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype.

Maternal serum insulin-like growth factor (IGF-I) and binding proteins IGFBP-1 and IGFBP-3 at 11-13 weeks' gestation in pregnancies delivering small for gestational age neonates.

Objective: To investigate the possible value of maternal serum concentration of insulin-like growth factor-I (IGF-I), IGF binding protein-1 (IGFBP-1) and IGFBP-3 at 11-13 weeks' gestation in the prediction of small-for-gestational age (SGA) neonates.

Study Design: Maternal serum concentrations of IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks were measured in 60 cases that subsequently delivered SGA neonates in the absence of pre-eclampsia, and compared to 120 non-SGA controls.

Results: In the SGA group, compared to the non-SGA group, there was significantly lower median IGF-I (61.

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.

Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare; however, the correlation between 2nd trimester ultrasonographic findings and underlying molecular defect in these cases is relatively poor. There is a need for specific ultrasound (U/S) predictors than can distinguish lethal from non-lethal cases and aid an earlier prenatal diagnosis.

Recent advances in optical imaging for cervical cancer detection.

Cervical cancer is one of the most common and lethal gynecological malignancies in both developing and developed countries, and therefore, there is a considerable interest in early diagnosis and treatment of precancerous lesions. Although the current standard care mainly based on cytology and colposcopy has reduced rates of cervical cancer morbidity and mortality, many lesions are still missed or overcalled and referred for unnecessary biopsies. Optical imaging technologies, spectroscopy approaches and high-resolution imaging methods are anticipated to improve the conventional cervical cancer screening providing in vivo diagnosis with high sensitivity and specificity.

Maternal serum IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks in trisomy 21 and trisomy 18 pregnancies.

Objective: To investigate the possible value of maternal serum concentration of insulin-like growth factor-I (IGF-I), IGF binding protein-1 (IGFBP-1) and IGFBP-3 in first-trimester screening for fetal aneuploidies.

Study Design: Maternal serum concentrations of IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks of gestation were measured and compared in 30 trisomy 21, 30 trisomy 18 and 120 euploid pregnancies.

Results: The median multiple of the normal median (MoM) values of maternal serum IGF-I, IGFBP-1 and IGFBP-3 in trisomy 21, trisomy 18 and euploid pregnancies were not significantly different (IGF-I: 1.

Maternal serum insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks in pre-eclampsia.

Objective: The aim of this study was to determine the maternal serum concentration of insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks' gestation in pregnancies that subsequently develop pre-eclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI).

Methods: Maternal serum concentration of IGFBP-1 and uterine artery PI were measured in 60 cases that developed PE, including 20 that required delivery before 34 weeks (early-PE) and 120 unaffected controls. The measured IGFBP-1 concentration and uterine artery PI were converted into a multiple of the expected median (MoM) in unaffected pregnancies and median MoM values were compared in the outcome groups.

Maternal serum insulin-like growth factor-I at 11-13 weeks in preeclampsia.

Objective: To investigate the maternal serum concentration of insulin-like growth factor-I (IGF-I) in the first trimester of pregnancies that subsequently develop preeclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI).

Methods: The maternal serum concentration of IGF-I and uterine artery PI at 11-13 weeks were measured in 53 cases that developed PE, including 18 that required delivery before 34 weeks (early-PE) and 106 unaffected controls. The measured IGF-I concentration and uterine artery PI were converted into a multiple of the expected median (MoM) in unaffected pregnancies, and median MoM values were compared in the outcome groups.

Maternal serum human placental growth hormone (hPGH) at 11 to 13 weeks of gestation in preeclampsia.

Objective: Human placental growth hormone (hPGH) is produced by human placenta and plays a central role in the maternal metabolic adjustments to pregnancy. The objective of this study was to investigate the maternal serum concentration of hPGH at 11-13 weeks of gestation in pregnancies that subsequently developed preeclampsia (PE), and to examine the possible association with uterine artery pulsatility index (PI) and maternal serum pregnancy-associated plasma protein-A (PAPP-A).

Methods: The maternal serum concentration of hPGH at 11-13 weeks was measured in a case-control study from 60 cases that developed PE and 120 unaffected controls.

Expression analysis of Akt and MAPK signaling pathways in lung tissue of patients with idiopathic pulmonary fibrosis (IPF).

Purpose Of The Study: Several studies in patients with lung cancer have shown that epidermal growth factor receptor regulates various tumorigenic processes through the phosphoinositide 3-kinase/Akt/mammalian target of rapamycin and Ras/Raf/Mek/Erk (mitogen-activated protein kinase (MAPK)) signalling pathways. The aim of our study is to evaluate whether these pathways are implicated in the pathogenesis of idiopathic pulmonary fibrosis (IPF) and to seek indirect evidence of a common pathogenetic pathway with lung cancer. m-RNA expression of oncogenes participating in these two signaling pathways, as well as the combined m-RNA expression of the suppressor genes R-kip and p53 in lung tissue of patients with IPF were evaluated.