Clinical characteristics and perinatal outcome of fetuses with ventriculomegaly.

PURPOSE: To assess the incidence of associated structural anomalies, chromosomal/genetic abnormalities, infections, and perinatal outcomes of fetuses with ventriculomegaly (VM), also to evaluate the role of fetal magnetic resonance imaging (MRI) in detecting associated intracranial anomalies. METHODS: Retrospective cohort study of 149 prenatally diagnosed pregnancies with fetal VM. VM was classified as mild (Vp = 10-12 mm), moderate (Vp = 12.1-15 mm), and severe (Vp > 15 mm). Fetal MRI was performed to 97 pregnancies. RESULTS: The incidences of an associated CNS, non-CNS, chromosomal anomaly, genetic abnormality and fetal infection were 42.3%, 11.4%, 6.1%, 2.1% and 1.3%, respectively. Fetal MRI identified additional CNS anomalies in 6.7% of cases, particularly in severe VM. The incidences of perinatal outcomes were 18.8% termination of pregnancy, 4% intrauterine and 8.1% neonatal or infant death. The rates of fetuses alive at > 12 months of age with neurological morbidity were 2.6%, 11.1% and 76.9% for mild, moderate and severe isolated VM, respectively. CONCLUSION: The prognosis of fetuses with VM mostly depends on the severity and the associated anomalies. Mild to moderate isolated VM generally have favorable outcomes. Fetal MRI is particularly valuable in fetuses with isolated severe VM.

SARS-CoV-2 in early pregnancy-does it affect the aneuploidy screening markers and cause pregnancy loss?

BACKGROUND: It is known that vertical transmission of various infections poses a potential risk to the fetus, especially in early pregnancy. Potential effects of SARS-CoV-2 infection on early pregnancy and placental formation and functions still remain unknown. AIM: To determine the alterations of prenatal aneuploidy screening markers in a group of pregnant women who were SARS-CoV-2 positive during the first trimester. The secondary goal was to assess pregnancy loss rates. METHOD: The study group consisted of pregnant women who were diagnosed with mild forms of SARS-CoV-2 infection before the screening test at any time in early pregnancy. The control group included pregnant women who were not diagnosed with SARS-CoV-2 infection during their pregnancy. SARS-CoV-2 infection was detected by RT-PCR in the nasopharyngeal swab samples. Multivariate linear regression analysis was performed due to evaluate effect of SARS-CoV-2 infection on NT and serum aneuploidy screening parameters taking maternal age and gestational age which the COVID-19 RT-PCR test result was positive into account. RESULTS: We did not find any significant difference between the COVID-19-positive and COVID-negative groups in gestational age at screening, sonographic measurements of CRL, NT, and serum levels of PAPP-A, free hCG, and triple test serum markers even after accounting for maternal age and gestational age which the COVID-19 RT-PCR test result was positive. There was no statistically significant difference in pregnancy loss. CONCLUSIONS: We did not find any evidence for unfavorable prenatal biochemical, ultrasound markers of fetal aneuploidy screening tests, and pregnancy loss rates in our study group.

Maternal serum interleukin-1ß, FoxO1 and Sestrin2 levels in predicting preterm delivery.

The study aimed to investigate whether serum IL-1ß, FoxO1and Sesn2 concentrations differed between threatened preterm labor (TPL) and uncomplicated pregnancies. This study was conducted on 54 women with TPL pregnancies and 26 healthy pregnant women. The TPL group was further divided into two subgroups according to the gestational age at delivery. Patients who gave birth within 48-72 hours after the hospitalization were referred to as preterm delivery (PD) and those who gave birth at ≥37 weeks were referred to as term delivery (TD). Maternal levels of serum IL-1ß, FoxO1 and Sesn2 were measured with the use of enzyme-linked immunosorbent assay kits. The mean maternal serum IL-1ß and FoxO1 of PD were significantly higher than TD (p<.000*) and the control group (p < .000*). The mean maternal serum IL-1ß, FoxO1 level of TD was significantly higher than the control group (p<.000*). The mean maternal serum Sesn2 levels of TD and the control group were significantly higher than the preterm group (p<.000*). The mean maternal serum Sesn2 level of the control group was significantly higher than the TD group (p <.000*). A negative correlation was found between serum concentration of serum IL-1ß, and FoxO1 with the gestational week of delivery (r= -0.722, p< .000*for, IL-1ß; r = -0.625, p < .000* for FoxO1). A positive correlation was found between the serum concentration of serum Sesn2 with the gestational week of delivery (r = 0.507, p<.000* for sesn2). High serum IL-1ß, FoxO1 levels, and low Sesn2 levels may have the potential to be used as biomarkers for the differentiation of PD and TD.

Fetal left brachiocephalic vein diameters in normal and growth restricted fetuses.

OBJECTIVES: To develop a nomogram for fetal left brachiocephalic vein (LBCV) diameters during a healthy pregnancy and to assess LBCV values in fetuses with fetal growth restriction (FGR). METHODS: This prospective observational study included 31 FGR pregnancies and 438 low-risk pregnancies. The low-risk group was used to determine the 5th, mean, and 95th percentiles for the LBCV between 12 and 39 weeks of gestation based on gestational age. On growth charts, LBCV measurements of FGR fetuses were displayed, and those above the gestational age 95th percentile were considered wide vein. Cerebroplacental ratio (CPR) and umbilical artery (UA), middle cerebral artery (MCA), and ductus venosus (DV) Doppler parameters were evaluated in FGR fetuses. RESULTS: LBCV diameter increased significantly with advancing gestational age. The LBCV diameters were above the 95th percentile in 23 of the 31 FGR fetuses (74.2%). All fetuses (15/15, 100%) with early-onset (EO)-FGR and 8 fetuses (8/16, 50%) with the late-onset (LO)-FGR had LBCV values above the 95th percentile (p<0.01). UA-PI was significantly higher and MCA-PI and CPR were significantly lower in LO-FGR fetuses with LBCV diameters above the 95th percentile (p<0.05). CONCLUSIONS: LBCV diameters of fetuses with FGR were significantly wider than the normal population. In the LO-FGR group, there was a good correlation between LBCV diameter and CPR.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including polycystic kidneys and congenital cardiac defects. GIKANIS is caused by a homozygous splicing variant (c.1173 + 2 T > A) leading to skipping of exon 10, frameshift, and premature termination codon of the ALG9 gene. To our best knowledge, only two affected families with confirmed molecular analyses have been reported. We present an additional report on two siblings with the same mutation, emphasizing the prenatal ultrasonographic features. Their facial and skeletal manifestations recapitulated those previously reported. Ultrasonography revealed polycystic kidneys and unbalanced atrioventricular septal defect (AVSD) with transposition of the great arteries.

Establishment of nomograms for fetal vermis and brainstem structures in the midsagittal cranial plane by ultrasonography.

PURPOSE: To construct nomograms for the fetal cerebellar vermis and brainstem structures obtainable from the midsagittal plane of the brain by two-dimensional sonography. METHODS: This was a prospective cross-sectional study of 434 healthy fetuses in low-risk singleton pregnancies between 18 and 35 gestational weeks. The following parameters were evaluated in the midsagittal cranial plane; cerebellar vermis anteroposterior diameter (APD), craniocaudal diameter (CCD), pons, midbrain and medulla oblongata APD and tectum length. The measurements were presented as growth charts according to gestational age. RESULTS: The mean ± SD, and 5%, 50%, 95% centile charts according to gestational age for vermis APD and CCD, pons, midbrain and medulla oblongata APD and tectum length were constructed. Pearson's correlation coefficients for vermis CCD and APD, pons, midbrain, medulla oblongata APD and tectum length by gestational week were 0.961, 0.929, 0.918, 0.761, 0.731 and 0.854, respectively (p < 0.0001). CONCLUSION: The reference data provided in the present study would be helpful in the prenatal diagnosis of challenging fetal conditions with involvement of the brainstem and cerebellum.

Maternal serum irisin levels in early and late-onset pre-eclamptic and healthy pregnancies.

The aim of the study was to investigate whether plasma irisin concentrations differ between uncomplicated, early-onset and late-onset pre-eclamptic pregnancies. This cross-sectional study was conducted on 27 women with early-onset, 27 women with late-onset pre-eclampsia (PE) and 26 healthy pregnant women. Maternal levels of serum irisin were measured with the use of an enzyme-linked immunosorbent assay kit. The mean maternal serum irisin level of early-onset PE was significantly lower than late-onset PE (1.14 ± 0.56 vs. 1.46 ± 0.59, p < .05) and control subjects (1.14 ± 0.56 vs. 3.14 ± 0.81, p < 0.001). The mean maternal serum irisin level of late-onset PE was significantly lower than the control group (1.46 ± 0.59 vs. 3.14 ± 0.81, p < 0.001). Maternal serum irisin levels are decreased in pre-eclamptic pregnancies. Low levels of irisin may be the result or the cause of pathologic changes in PE. Impact statement What is already known on this subject? There are only two studies in the literature evaluating maternal serum irisin levels in pre-eclamptic pregnancies. One study demonstrated decreased maternal serum irisin levels in pre-eclamptic patients and the other found no significant difference between pre-eclamptic and control pregnancies. What do the results of this study add? The present study demonstrates that serum irisin levels were significantly lower in pre-eclampsia than normotensive pregnancies. Furthermore, we have also demonstrated for the first time that women with EO-PE had significantly lower levels of serum irsin than women with LO-PE. What are the implications of these findings for clinical practice and/or further research? Low levels of irisin may be the result or the cause of pathologic changes in pre-eclampsia. More studies are needed to evaluate the relationship between irisin and pre-eclampsia.

Pregnancy outcome in 162 women with rheumatic diseases: experience of a university hospital in Turkey.

PURPOSE: To evaluate the distribution and the obstetric outcomes of pregnancies with different types of rheumatic diseases managed in our unit. METHODS: Pregnancies of 162 women with rheumatic diseases, seen for their antenatal care at our department for the period between 2013 and 2017 were included in this retrospective clinical study. Obstetric and perinatal outcomes were main outcome measures. RESULTS: The most encountered rheumatic diseases were SLE (37.7%) followed by Behcet's disease (20.4%) and rheumatoid arthritis (17.3%) in our series. The mean maternal age was 30.6 ± 5.3 and the rate of nulliparity was 38.3% in the overall group. Disease activation occurred in 14.1% of patients. Mean gestational age at delivery was 37.4 ± 3.1 and mean birth weight was 3004 ± 762 g. Stillbirth, neonatal death, fetal growth restriction, preeclampsia and preterm delivery rates were 1.2, 2.4, 17.3, 7.4 and 17.9%, respectively. Antiphospholipid syndrome had the highest incidences for fetal growth restriction (42.9%), preeclampsia (28.6%) and delivery ≤ 34 gestational weeks (42.9%). Pathologic uterine artery Doppler velocimetry was identified in 15 cases (15/162, 9.3%) in which 10 (66.7%) developed preeclampsia and/or fetal growth restriction during follow-up. CONCLUSION: A majority of women with rheumatic diseases have successful pregnancies and deliver healthy babies, with the close and appropriate rheumatological, obstetric and neonatal monitoring.