Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results.

The aim of this study is to retrospectively examine invasive diagnostic methods, structural anomalies accompanying cystic hygroma, and pregnancy outcomes in cystic hygroma cases admitted to a tertiary centre. The population of the study consisted of 29 live foetuses with cystic hygroma in the foetal neck only in the first or second trimester. In the study, pregnant women who applied to our centre were included. Amniocentesis or chorionic villus sampling was performed for genetic analysis according to the weeks of the pregnant women who were diagnosed with cystic hygroma by ultrasound examination by two clinicians experienced in foetal anomaly. Of the pregnant women included in the study, 10 had normal karyotype, 12 had abnormal karyotype and 13 had structural abnormality. It is very important to provide genetic counselling to the families of foetuses with cystic hygroma with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and experienced sonographers. Implications for rehabilitationWhat is already known on this subject? Cystic hygroma, also known as cystic lymphangioma, is a congenital cystic malformation often seen in the first trimester, which occurs in the foetal neck due to the failure of the connections between the cervical lymphatic vessels and the jugular venous system to develop normally. Cystic hygroma may be isolated, but highly associated with foetal aneuploidy, hydrops fetalis, abnormal foetal nuchal translucency.What do the results of this study add? Invasive prenatal diagnostic tests (CVS or amniocentesis) should be performed in all patients with cystic hygroma, as cystic hygromas can be diagnosed by first trimester foetal genetic sonogram screening and are largely accompanied by chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? In foetuses with cystic hygroma, foetal karyotyping, detailed sonography and their documentation, genetic counselling is important to families of cystic hygroma foetuses with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and maternal foetal medicine specialists, since there is a high risk for aneuploidy and foetal malformation.

Diagnosis of central nervous system abnormalities: comparison of prenatal neurosonography and foetal magnetic resonance imaging findings.

Magnetic resonance imagining (MRI) is gradually becoming the more preferred imaging modality in the evaluation of central nervous system (CNS) abnormalities rather than foetal ultrasonography (USG). The aim of this study was to compare the findings of prenatal neurosonography and foetal MRI. The study was a retrospective study analysing the records of 160 pregnant women who underwent both foetal MRI and USG due to suspicion of CNS abnormalities between 2008 and 2019. Indications for applying foetal MRI were neurosonography and foetal MRI findings. When the compatibility between MRI and USG results was examined in CNS abnormalities, it was found fully compatible in 61.3% of cases, partially compatible in 24.53% of cases, and not compatible in 14.5% of cases. When comparing prenatal neurosonography and foetal MRI findings, additional findings were reported in 16.9% of cases, and no additional finding was reported in 66.8% of cases. While normal anatomical findings were reported in 8.8% of the cases in MRI, the diagnosis made by neurosonography changed in 7.5%. Foetal MRI has more advantages than USG both in imaging the CNS abnormalities in more detail and in determining the accompanying additional anomalies.IMPACT STATEMENTWhat is already known on this subject: USG is a safe, practical and cost-effective primary imaging method that is widely used for foetal anomaly screening. However, there may sometimes be difficulties in evaluating the foetal brain structures due to foetal position which is unsuitable for imaging, extremely obese with a high body mass index, oligohydramnios and ossified foetal skull. For this reason, magnetic resonance imaging (MRI) is used as the most commonly used imaging method after USG in the evaluation of foetal anatomy, especially CNS.What do the results of this study add?: In our study, we saw that foetal MRI has more advantages than neurosonography in both seeing CNS abnormalities in more detail and recognising additional anomalies that may accompany.What are the implications of these findings for clinical practice and/or further research?: We have seen that besides neurosonography, foetal MRI can provide important information that can affect the clinical approach in pregnancy management by increasing the correct diagnosis in pregnancies with congenital CNS abnormalities. MRI: it is the best secondary imaging modality that can aid diagnosis in addition to neurosonography in the diagnosis of CNS abnormalities and in suspected cases. Therefore, foetal MRI should be used more widely in prenatal diagnosis.

Evaluation inflammatory markers of hemogram parameters in primary ovarian insufficiency.

OBJECTIVE: In most of primary ovarian insufficiency (POI) cases, etiologic factors have not been fully elucidated. Recent studies have revealed that inflammatory agents play an important role in the etiopathogenesis of POI. Therefore, the aim of this study was to investigate the role of inflammatory markers of hemogram parameters in POI. MATERIALS AND METHODS: The study compared 47 healthy women and 47 women diagnosed as having POI retrospectively by scanning electronic and written recording systems. Complete blood counts, day-3 hormone profiles levels of all subjects were analyzed. The neutrophil-lymphocyte ratio (NLR), red cell distribution width (RDW), platelet ratio (RPR), platelet lymphocyte ratio (PLR), and mean platelet volume (MPV) mean platelet lymphocyte ratio (MPLR) were calculated from the complete blood count parameters. RESULTS: White blood cell and MPV values, platelet, and lymphocyte counts were significantly higher in the POI patients (p<0.001, p=0.042, p=0.038, p=0.049, respectively), RPR was significantly lower than the control group (p=0.011), but there were no significant differences in hemoglobin, RDW, NLR, PLR, and MPLR (p=0.454, p=0.057, p=0.635, p=0.780, p=0.126, respectively). The neutrophil count of the study group was higher than in the control group (p=0.057). Bivariate correlation analyses showed no correlations between blood parameters and hormone levels. The area under the receiver operating characteristic curve for RPR in POI was 0.652, with a threshold value 0.053, sensitivity=63% and specificity=63. CONCLUSION: Inflammatory markers of hemogram detected higher in patients with POI then control subjects.

Association of endothelial nitric oxide synthase gene G894T polymorphism and serum nitric oxide levels in patients with preeclampsia and gestational hypertension.

OBJECTIVE: Pregnancy-induced hypertension is one of the most important cause of maternal-fetal morbidity and mortality. Pregnancy-related hypertensive disorders are usually associated with diminished nitric oxide (NO) levels. We aimed to evaluate the role of serum NO levels and eNOS gene G894T polymorphism on hypertensive disorders of pregnancy. METHODS: Eighty patients with gestational hypertension or preeclampsia, and 80 healthy pregnants were enrolled to analyze serum NO levels and G894T polymorphism of the eNOS gene. NO level was analyzed by high-performance liquid chromatography (HPLC) method. The G894T polymorphism of the eNOS gene was determined by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). RESULTS: There was no significant difference between groups in terms of G894T/eNOS genotype and allele frequencies (p > 0.05). Serum NO levels were significantly lower in the patients group. In the control group, subjects with thymine-thymine (TT) genotype had significantly lower NO levels when compared to subjects with guanine-guanine (GG) or guanine-thymine (GT) genotype (p < 0.05). CONCLUSIONS: We failed to demonstrate an association between eNOS gene G894T polymorphism and serum NO levels in patients with pregnancy-induced hypertensive disorders. We established a relation between pregnancy-induced hypertension and low NO levels.