Kombinacja wewnątrzczaszkowej przezierności i ultrasonografii 3D w diagnostyce wad cewy nerwowej w pierwszym trymestrze ciąży: opis przypadku i przegląd literatury

Neural tube defects are congenital defects of the central nervous system caused by lack of neural tube closure. First trimester screening for aneuploidy has become widespread in the recent years. Fetal intracranial translucency (IT) can be easily observed in normal fetuses in the mid-sagittal plane. The absence of IT should be an important factor taken into consideration in the early diagnosis of open spinal defects. 3D ultrasonography is especially useful in cases of spinal anomalies where the visualization of the fetal structure is insufficient due to fetal position. We present a combination of intracranial translucency and 3D sonography used in the first trimester diagnosis of a neural tube defect case.Wady cewy nerwowej są wrodzonymi defektami centralnego układu nerwowego spowodowanymi brakiem zamknięcia cewy nerwowej. Badania skriningowe w pierwszym trymestrze w kierunku aneuploidii stały się w ostatnich latach bardzo rozpowszechnione. Płodowa przezierność wewnątrzczaszkowa może być oceniona w prawidłowych płodach w płaszczyźnie pośrodkowej. Brak przezierności wewnątrzczaszkowej (IT) powinien być istotnym czynnikiem ryzyka branym pod uwagę we wczesnej diagnostyce otwartych wad cewy nerwowej. Ultrasonografia 3D jest szczególnie przydatna w przypadkach gdy uwidocznienie struktur płodu jest niewystarczające z uwagi na pozycję płodu. Przedstawiamy kombinację przezierności wewnątrzczaszkowej i ultrasonografii 3D w diagnostyce wad cewy nerwowej w pierwszym trymetrze ciąży

Rubella vaccination during the preconception period or in pregnancy and perinatal and fetal outcomes

The rubella vaccine is contraindicated in pregnancy. Between July and August 2009, the Turkish Republic Ministry of Health implemented a vaccine program to eradicate rubella in women in the reproductive period. In this program, many pregnant women were also vaccinated inadvertently. In this study, 62 pregnant women applied to our clinic who were vaccinated either during pregnancy or within one month before the last menstrual period. Seventeen of them were followed until the end of the pregnancy by fetal echocardiography and detailed ultrasonography. Rubella immunoglobulin (Ig) M and IgG antibodies were studied in the cord blood obtained at birth. All fetuses were examined by a pediatrician, an ophthalmologist and a pediatric cardiologist. A hearing test was also performed on all neonates. No signs of congenital rubella syndrome could be found

Mannose-binding lectin may affect pregnancy outcome

Mannose-binding lectin (MBL) is a component of the innate immune system and acts as a complement activator through the lectin pathway. Genetic variations of MBL and low MBL levels cause several infection problems, which may also be related to pregnancy problems. We aimed to investigate the role of MBL gene codon 54 polymorphism and serum MBL levels in pregnancy problems and premature delivery. In this prospective study, MBL gene codon 54 polymorphism and serum MBL levels were studied in 45 mothers who delivered earlier than 35 gestational weeks. The frequency of MBL gene codon 54 variant allele B was much higher (homozygous 4.4% and heterozygous 33.3%) in the study group mothers than the previously reported frequency in the healthy Turkish population (homozygous 2-6%, heterozygous 12-20%). MBL variant allele B frequency was closely related to low MBL levels

The differential expression of Kiss1, MMP9 and angiogenic regulators across the feto-maternal interface of healthy human pregnancies:implications for trophoblast invasion and vessel development

Genes involved in invasion of trophoblast cells and angiogenesis are crucial in determining pregnancy outcome. We therefore studied expression profiles of these genes in both fetal and maternal tissues to enhance our understanding of feto-maternal dialogue. We investigated the expression of genes involved in trophoblast invasion, namely Kiss1, Kiss1 Receptor (Kiss1R) and MMP9 as well as the expression of angiogenic ligands Vascular Endothelial Growth Factor-A ( VEGF-A) and Prokineticin-1 ( PROK1 ) and their respective receptors (VEGFR1, VEGFR2 and PROK1R ) across the feto-maternal interface of healthy human pregnancies. The placenta, placental bed and decidua parietalis were sampled at elective caesarean delivery. Real-time RT-PCR was used to investigate transcription, while immunohistochemistry and western blot analyses were utilized to study protein expression. We found that the expression of Kiss1 (p<0.001), Kiss1R (p<0.05) and MMP9 (p<0.01) were higher in the placenta compared to the placental bed and decidua parietalis. In contrast, the expression of VEGF-A was highest in the placental bed ( p<0.001 ). While VEGFR1 expression was highest in the placenta (p<0.01), the expression of VEGFR2 was highest in the placental bed (p<0.001). Lastly, both PROK1 (p<0.001) and its receptor PROK1R (p<0.001) had highest expression in the placenta. Genes associated with trophoblast invasion were highly expressed in the placenta which could suggest that the influence on invasion capacity may largely be exercised at the fetal level. Furthermore, our findings on angiogenic gene expression profiles suggest that angiogenesis may be regulated by two distinct pathways with the PROK1/PROK1R system specifically mediating angiogenesis in the fetus and VEGFA/VEGFR2 ligand-receptor pair predominantly mediating maternal angiogenesis