Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects.

BACKGROUND/AIM: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown. MATERIALS AND METHODS: In this study, we compared serum folate, vitamin B12, and homocysteine levels, along with common thrombophilia-related genetic variations, including factor V Leiden, factor II g.20210G>A, MTHFR c.677C>T, and MTHFR c.1298A>C, in 35 pregnant women with fetal NTDs and 38 pregnant women with healthy fetuses. RESULTS: A significant difference in serum vitamin B12 level and factor V Leiden frequency was detected between the two groups. On the other hand, serum folate, homocysteine levels, and factor II g.20210G>A, MTHFR c.677C>T, and MTHFR c.1298A>C were not significantly different in the NTD group compared to the controls. CONCLUSION: These results indicate that vitamin B12 supplementation along with folate may help in lowering NTD frequency. In addition, this is the first study that provides evidence for a possible relationship between increased NTD risk and factor V Leiden.

Prenatal diagnosis and outcomes of fetal teratomas.

PURPOSE: Our aim was to evaluate the diagnostic performance of ultrasonography (US) in the prenatal identification of teratomas and the perinatal outcome of the fetuses with those teratomas. METHODS: In this retrospective case series study, we searched the archives using the keywords "fetal mass" or "fetal tumor" or "fetal teratoma" and "sacrococcygeal teratoma," diagnosed between 2009 and 2014, within the US database of our center. RESULTS: One hundred seven fetuses were prenatally diagnosed as having a cystic or solid mass, tumor, or teratoma. Nineteen of those cases were diagnosed prenatally as having fetal teratoma, but that diagnosis could not be verified in three cases. In one fetus, the prenatal diagnosis could not be confirmed. The sensitivity of US in identifying fetal teratoma was 100% and the false-positive rate, 3.3%. Six pregnancies complicated by a fetal teratoma were terminated. A normal karyotype was identified in all fetuses that underwent karyotyping. Among the nine women who continued their pregnancy, polyhydramnios was identified in four fetuses; although high-output heart failure was also identified in two of those fetuses during prenatal follow-up, none developed hydrops. On delivery, nine infants were born alive, but three (33.3%) of them died within the early neonatal period. CONCLUSIONS: US has very high sensitivity and low false-positive rates in identifying fetal teratoma prenatally. The risk of chromosomal abnormalities is very low in fetuses with teratoma, and their prognosis depends on the location and size of the tumor and any associated perinatal complications.

Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities.

OBJECTIVES: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangioma. METHODS: This was a retrospective case series study. We searched the archives of our ultrasound database at our center for cases with the prenatal diagnosis of the lymphangioma in the period between January 2008 and November 2014. We described maternal, fetal and perinatal variables for all cases. RESULTS: Nine fetuses with lymphangioma were identified. All cases were diagnosed during the second and third trimesters with the average gestational age of 22.6 ± 3.9 weeks. The average diameter of lymphangioma was 55.4 ± 20.1 mm at the time of diagnosis. Five fetuses (55.6%) had lymphangioma on the neck, and four fetuses (44.4%) had lymphangioma on other localizations. Normal fetal karyotype was detected in all cases. There were a total of six live births, one intrauterine death and two medical terminations of pregnancy following the diagnosis of lymphangioma. No abnormal Doppler finding or hydrops were detected in the antenatal follow-up of remaining six cases. CONCLUSION: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size.

Prediction of gestational diabetes mellitus at first trimester in low-risk pregnancies.

OBJECTIVE: We aimed to assess the relationship among the sex hormone-binding globulin (SHBG), homeostasis model assessment (HOMA), glycosylated hemoglobin (HbA1c), and cholesterol panel values to predict subsequent gestational diabetes mellitus (GDM) in low-risk pregnancies. MATERIALS AND METHODS: Thirty-eight pregnant women with GDM and 295 low-risk pregnant women without GDM were included in this study. Maternal blood samples were obtained during the first trimester examination to determine the SHBG, HbA1c, fasting blood glucose, insulin, thyroid stimulating hormone (TSH), free thyroxine, total cholesterol, triglycerides (TG), high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol (LDL-C) levels. The variables that exhibited statistically significant differences between the groups and independent predictors for GDM were examined using logistic regression analysis. The risk of developing GDM, according to cutoff values, was determined using receiver operating characteristic (ROC) curve analysis. RESULTS: The SHBG, HOMA, LDL, and TG levels were found to be the significant independent markers for GDM [adjusted odds ratio (OR) = 0.991; 95% confidence interval (CI), 0.986-995; OR = 1.56; 95% CI, 1.24-1.98; OR = 1.02; 95% CI, 1.01-1.04; and OR = 1.01; 95% CI, 1.00-1.02, respectively]. The HbA1c, body mass index, and mean arterial pressure values were nonindependent predictors of GDM. The areas under the ROC curve used to determine the predictive accuracy of SHBG, HOMA, TG, and LDL-C for development of GDM were 0.73, 0.75, 0.70, and 0.72, respectively. For a false positive rate of 5% for the prediction of GDM, the values of the sensitivities were 21.1, 26.3, 21.1, and 18.4%, respectively. CONCLUSION: The HOMA, SHBG, TG, and LDL-C levels are independent predictors for subsequent development of GDM in low-risk pregnancies, but they exhibit low sensitivity.

Transvaginal sonographic evaluation of the cervix in asymptomatic singleton pregnancy and management options in short cervix.

Preterm delivery (PTD), defined as birth before 37 completed weeks of gestation, is the leading cause of perinatal morbidity and mortality. Evaluation of the cervical morphology and biometry with transvaginal ultrasonography at 16-24 weeks of gestation is a useful tool to predict the risk of preterm birth in low- and high-risk singleton pregnancies. For instance, a sonographic cervical length (CL) > 30 mm and present cervical gland area have a 96-97% negative predictive value for preterm delivery at <37 weeks. Available evidence supports the use of progesterone to women with cervical length ≤25 mm, irrespective of other risk factors. In women with prior spontaneous PTD with asymptomatic cervical shortening (CL ≤ 25 mm), prophylactic cerclage procedure must be performed and weekly to every two weeks follow-up is essential. This article reviews the evidence in support of the clinical introduction of transvaginal sonography for both the prediction and management of spontaneous preterm labour.