Prenatal Diagnosis of Ductus Arteriosus Anomalies: A Single-Center Study.

To evaluate the fetal ductus arteriosus anomalies diagnosed by fetal echocardiography. The perinatal outcomes and associated cardiac and genetic anomalies are also explored. The fetal echocardiography records of 2366 fetuses were evaluated retrospectively. Thirty-seven pregnancies prenatally diagnosed with ductus arteriosus anomalies and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of ductus arteriosus anomaly in our series was 1.5% (37/2366). The most frequent ductus arteriosus anomaly detected was right-sided ductus arteriosus followed by aneurysm, constriction and bilateral ductus arteriosus with an incidence of 51.3%, 27.1%, 18.9% and 2.7%, respectively. There were 19 fetuses with right-sided ductus arteriosus, of which 15 had tetralogy of Fallot. There were 2 chromosomal anomalies (22q11 microdeletion) in this group. Of the 7 fetuses with ductus arteriosus constriction, 3 (3/7, 42.9%) died in-utero. There were 2 (2/10, 20%) neonatal deaths due to hypoplastic left heart syndrome in the ductus arteriosus aneurysm group. Various types of ductus arteriosus anomalies can be diagnosed prenatally. Perinatal outcomes mostly dependent on the type of the ductus arteriosus anomaly and accompanying cardiac malformations.

Oxidative stress and antioxidant status in threatened preterm labor.

PURPOSE: The purpose of this study was the evaluation of total oxidant status (TOS), total antioxidant status (TAS), oxidative stress index (OSI) and superoxide dismutase (SOD) levels in women with threatened preterm labor (TPL) and also to compare the levels of these oxidative stress biomarkers of TPL pregnancies that had preterm and term deliveries. METHODS: This case-control study was conducted on 46 patients diagnosed with TPL and 47 healthy pregnant women matched for gestational age. Patients with threatened preterm labor were divided into two groups: true preterm birth (TPB) group (n = 16) and false preterm birth (FPB) group (n = 30) groups. Maternal serum SOD, TOS and TAS levels were measured by a spectrophotometric method using a commertial kit. OSI level for each patient was calculated by using the formula: (TOS (µmol·H2O2·equiv/L) × 100)/(TAS (µmol·Trolox·equiv/L)). RESULTS: The mean TAS levels of the TPB and FPB groups were significantly lower than those of the control group (0.96 ± 0.3 vs 1.36 ± 0.34, p1 < 0.001; 0.97 ± 0.22 vs 1.36 ± 0.34, p2 < 0.001, respectively). The mean SOD, TOS and OSI levels of the TPB and FPB groups were significantly higher than those of the control group (p < 0.001). There was no significant difference between the TPB and FPB groups for any oxidative stress biomarkers. CONCLUSION: The maternal serum oxidative stress biomarkers are increased in pregnancies with TPL. However, these are not effective in predicting preterm birth in pregnancies with TPL.

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.

Evaluation of the type of fetal umblical-portal anastomosis in late-onset fetal growth restriction: A case-control study.

PURPOSE: To evaluate the type of umbilical-portal anastomosis in late-onset fetal growth restriction (LO-FGR) and appropriate for gestational age (AGA) fetuses. To investigate the impact of the type of umbilical-portal anastomosis on the adverse outcomes in LO-FGR. METHOD: This study observed 150 pregnancies with AGA fetuses and 62 pregnancies with fetuses with LO-FGR. In each case, the point of reference for measuring the abdominal circumference was established. The type of umbilical-portal anastomosis was evaluated as T-shaped, X-shaped, and H-shaped according to the shape of main portal vein and portal sinus. Incidences of the type of umbilical-portal anastomosis in AGA and LO-FGR fetuses were evaluated. RESULTS: T-shaped anastomosis was the most common (56.7%) in the AGA group and X-shaped (66.1%) in the LO-FGR group. In LO-FGR, T-shape anastomosis was significantly lower and X-shape anastomosis was significantly higher than AGA (p < 0.001). X-shaped anastomosis was associated with LO-FGR and the RR was 2.3 (95% CI 1.5-3.6; p < 0.001). Incidences of admission to NICU and emergency C/S for fetal distress were higher in fetuses with X -shaped anastomosis in the LO-FGR (p < 0.05). CONCLUSION: X-shaped umbilical-portal anastomosis have a prognostic significance in LO-FGR fetuses.

Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.

Introduction: Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. Discussion/Conclusion: CPA may be one of the cardiac anomalies in CHARGE syndrome.

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.

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.

Perinatal Outcomes of Fetuses with Prenatally Diagnosed Atrial Appendage Aneurysm.

To evaluate the characteristics and outcomes of fetuses with atrial appendage aneurysm (AAA) diagnosed by fetal echocardiography. The fetal echocardiography records of 1956 fetuses were evaluated retrospectively. Nine pregnancies who had been diagnosed with fetal AAA prenatally and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of fetal AAA in our series was 0.46%. Seven fetuses (77.8%) had right AAA, 1 fetus had left AAA (11.1%) and 1 fetus (11.1%) had bilateral AAA. The average gestational age at the first observation and/or diagnosis and gestational age at delivery was 22.3 ± 1.9 weeks and 34.7 ± 4.9 weeks, respectively. Incidences of associated cardiac anomaly, pericardial effusion, and nonimmune hydrops fetalis (NIHF) were 44.4%, 22.2%, and 11.1%, respectively. There was no chromosomal abnormality detected in 4 pregnancies where karyotype analysis was performed. There were 2 neonatal (22.2%) and 1 fetal (11.1%) deaths in our study group. Detailed cardiac and structural ultrasonographic examination should be performed in pregnancies with fetal AAA.

Assessment of normal fetal cortical sulcus development.

OBJECTIVE: The aim of our study was to investigate the normal cortical sulcus development in fetuses without central nervous system abnormality with transabdominal ultrasonography. METHODS: Our study was planned as a cross-sectional study in our clinic between November 2011 and October 2012. The study group was selected among pregnant women who applied to our hospital for routine antenatal follow-up. Singleton pregnancies, between 15th and 32nd gestational weeks, were included in the study. During the routine fetal ultrasonographic examination of these pregnant women, sylvian sulcus, parietooccipital sulcus, calcarine sulcus, and cingulate sulcus length measurements were taken and the correlation of these values with gestational week was evaluated. RESULTS: Three hundred and thirty-two patients were included in the study. Sylvian sulcus length, parietooccipital sulcus length, calcarine sulcus length, and cingulate sulcus length could be first measured respectively, at 15th, 17th, 17th and 25th gestational week. We found a positive correlation between gestational age and sylvian sulcus, parietooccipital sulcus, calcarine sulcus, and cingulate sulcus length measurements (p < 0.001). CONCLUSION: Sulcal development and cortical maturation can be evaluated prenatally with transabdominal ultrasonography of the central nervous system.

Prediction of preterm delivery in threatened preterm labour with short cervical length.

In this study, we evaluated the value of the uterocervical angle (UCA), myometrial thickness (MT), sICAM-1, sVCAM-1, soluble E-selectin (sE-selectin) and pentraxin 3 (PTX3) levels in women with threatened preterm labour (TPL) in predicting spontaneous preterm birth (sPTB) within 14 days in symptomatic women with cervical length (CL) measurements between 10 and 25 mm. Forty-six patients diagnosed with TPL, 47 healthy pregnant women were evaluated in a case-control study. sE-selectin (AUC = 0.744, p = .007) and PTX3 (AUC = 0.711, p = .019) were found to be effective in predicting preterm delivery within 14 days. In conclusion, maternal sE-selectin and PTX3 levels may be helpful in identifying pregnancies that will deliver within 14 days in symptomatic women with CL measurements between 10 and 25 mm. However, maternal sICAM-1 and sVCAM-1 levels, MT and UCA are not effective in the prediction of sPTB in TPL pregnancies. Impact StatementWhat is already known on this subject? Aetiology of spontaneous preterm birth (sPTB) is unclear and believed to be multifactorial, infection, inflammation, vascular endothelial dysfunction and uteroplacental ischaemia are all considered to be related to preterm delivery syndrome. Transvaginal cervical length (CL) measurement is a good indicator of increased risk of sPTB. Inflammation is accepted to have a central role in the process of labour.What do the results of this study add? soluble E-selectin (sE-selectin) and pentraxin 3 (PTX3) levels may be helpful in identifying pregnancies that will deliver within 14 days in symptomatic women with CL measurements between 10 and 25 mm.What are the implications of these findings for clinical practice and/or further research? This study will help understand the important role of the inflammatory process in predicting spontaneous preterm birth.

Perinatal outcomes of pregnancies with prenatally diagnosed foetal congenital heart disease.

We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart defect. We retrospectively reviewed 377 pregnancies with prenatally diagnosed CHD. The main outcome measure was to evaluate the pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Of 377 foetuses with major structural CHD, 214 (56.8%) were isolated, 49 (13%) had additional cardiac anomalies, 58 (15.4%) had extracardiac malformations with normal karyotype and 56 (14.9%) had chromosomal abnormalities. The most common chromosomal abnormality was trisomy 21 (55.4%). Prenatal detection of CHD allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations. Prognostication of each heart defect at diagnosis and facilitating patients with isolated surgically correctable CHD for targeted postnatal care is essential.IMPACT STATEMENTWhat is already known on this subject? CHD is the most common structural anomaly and is strongly associated with chromosomal anomalies and genetic syndromes.What do the results of this study add? Survival of the prenatally diagnosed CHD depends on the type and severity of the condition and coexisting extracardiac structural or chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? Prenatal detection of CHD allows early workup to identify chromosomal abnormalities, detailed anatomic evaluation of extracardiac malformations and time to refer the parents to tertiary cardiac care centres and prepare for planned delivery, as well as to establish an appropriate perinatal and postnatal therapeutic plan.

Pons Anteroposterior and Cerebellar Vermis Craniocaudal Diameters in Fetuses With Down Syndrome.

OBJECTIVES: To investigate the pons anteroposterior diameter (APD) and cerebellar vermis craniocaudal diameter (CCD) of fetuses with Down syndrome (DS). METHODS: This was a prospective observational study including 200 low-risk pregnancies and 18 pregnancies with fetuses who had DS. A midsagittal view was obtained to measure the pons APD and cerebellar vermis CCD. Gestational age-related 5th, mean, and 95th percentiles for the pons APD and cerebellar vermis CCD between 18 and 32 weeks' gestation were created from the low-risk population. Each measurement of a fetus with DS was plotted on growth charts, and those below the 5th percentile for gestational age were considered small. RESULTS: The pons APD and cerebellar vermis CCD measurements were below the 5th percentile for gestational age in 7 of the 18 (38.8%) fetuses with DS. Fetuses who had pons APDs below the 5th percentile for gestational age also had cerebellar vermis CCDs below the 5th percentile. Fetuses who had pons and cerebellar vermis measurements below the 5th percentile for gestational age on the initial examination continued to have small measurements during follow-up. CONCLUSIONS: Fetal pons and cerebellar vermis abnormalities could be observed prenatally in fetuses with DS, which could help in the antenatal counseling and postnatal follow-up of such pregnancies.

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.

Complete Hydatidiform Mole and Co-Existing Live Fetus after Intracytoplasmic Sperm Injection: A Case Report and Literature Review.

INTRODUCTION: Twin pregnancy with complete hydatidiform mole and co-existing fetus (CHMCF) is an uncommon obstetric entity and may occur after assisted reproductive technologies. These pregnancies are associated with severe complications for both mother and fetus and the management is challenging. Case Report: We report a twin pregnancy after intracytoplasmic sperm injection (ICSI) treatment with CHMCF which delivered at 26 gestation weeks due to severe preeclampsia. The 625g neonate survived without any complication. The woman had persistent trophoblastic disease with lung metastasis and was treated with single agent methotrexate. We also present a brief review of the literature about the outcomes of CHMCF after ICSI. Conclusion: CHMCF may occur after ICSI treatment. Pregnancies with CHMCF are associated with severe complications however under close follow-up successful outcomes could be achieved in such pregnancies.

How do platelet-to-lymphocyte ratio and neutrophil-to-lymphocyte ratio change in women with preterm premature rupture of membranes, and threaten preterm labour?

The aim of the study was to investigate peripheral blood platelets, neutrophils and lymphocytes counts in women with preterm premature rupture of membranes (PPROM) and threatened preterm labour (TPL) compared with gestation-matched controls in order to learn how they change. This study was conducted on 60 women with PPROM, 50 women with TPL and 47 healthy pregnant women. Laboratory parameters (including complete blood count, C-reactive protein (CRP)) of all the participants were recorded. The neutrophil-to-lymphocyte ratio (NLR) values were significantly higher in PPROM group than TPL group and healthy control group (6.1 ± 3.9, 4.4 ± 1.7, 4.4 ± 2.2, p = .007, p = .018, respectively). At a cut-off level of 5.14, NLR accurately predicted occurrence of neonatal sepsis (AUC = 0.717 (95% confidence interval 0.610-0.824), p = .001) with sensitivity and specificity rates of 69.7% and 72.0%, respectively. In the management of the patients with PPROM, NLR can be used as a more cost-effective method than other blood parameters that require the use of a kit.IMPACT STATEMENTWhat is already known on this subject? There is only one study in the literature evaluating blood count parameters (such as platelet-to-lymphocyte ratio (PLR), NLR) in PPROM pregnancies. That study demonstrated PLR and NLR were both higher in the PPROM group.What do the results of this study add? The present study demonstrates that only NLR is higher in the PPROM group. Furthermore, we have also demonstrated distinctively that NLR can predict occurrence of neonatal sepsis.What are the implications of these findings for clinical practice and/or further research? High values of NLR may be useful for predicting adverse outcomes in PPROM and TPL patients as a cost-effective method. Further studies are needed to determine whether these parameters can be used to predict if a pregnant woman who is at risk of preterm labour will result in adverse perinatal outcome.

Hypoxia-inducible factor-1α, hepcidin and interleukin-6 levels in pregnancies with preterm labour.

The aim of the study was to investigate whether serum hypoxia-inducible factor-1alpha (HIF-1α), hepcidin and interleukin-6 (IL-6) concentrations differed between threatened preterm labour (TPL) and uncomplicated pregnancies. This study was conducted on 54 women with TDL 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 h after the hospitalisation were referred to as preterm delivery (PD) and who gave birth at ≥37 weeks were referred to as term delivery (TD). Maternal levels of serum HIF-1α, hepcidin and IL-6 were measured with the use of enzyme-linked immunosorbent assay kits. The mean maternal serum HIF-1α, hepcidin and IL-6 levels of PD were significantly higher than TD (p < .001*) and control group (p < .001*). The mean maternal serum HIF-1α and hepcidin levels of TD were no significantly higher than the control group (p=.058, p = .064). The mean maternal serum IL-6 level of TD was significantly higher than the control group (p < .001*). A negative correlation was found between serum concentration of HIF1α, hepcidin, IL-6 with the gestational week of delivery (r = -0.421, p < .01* for HIF-1α; r = -0.578, p < .01* for hepcidin and r = -0.435, p < .01* for IL-6). High levels of HIF-1α, hepcidin and IL-6 may have potential to be used as biomarkers for the differentiation of PD and TD.Impact statementWhat is already known on this subject? It is known that hypoxia-inducible factor-1alpha (HIF-1α) is a hypoxia marker and hepcidin and interleukin-6 (IL-6) increase in inflammation. Our study is the comparison of maternal serum HIF-1α, hepcidin and IL-6 levels between the TPL group (TD and PD) and healthy control group.What the results of this study add? The present study demonstrates that serum HIF-1α, hepcidin and IL-6 levels were significantly higher in TPD group than uncomplicated group. The mean maternal serum HIF-1α and hepcidin levels of TD were no significantly higher than the control group.What the implications are of these findings for clinical practice and/or further research? High levels of HIF-1α, hepcidin and IL-6 may be biomarkers in the determination of true preterm labour within the TPL group.

Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.

Introduction: 5p deletion syndrome commonly known as cri du chat syndrome is a well-described syndrome in neonates with catlike cry, craniofacial dysmorphic features, abnormal dermatoglyphics, microcephaly and severe psychomotor and developmental delay.Case report: We report a case of 5p deletion syndrome diagnosed prenatally in association with mild ventriculomegaly, cerebellar hypoplasia, pontine hypoplasia, increased subarachnoid space and high suspicion of cortical hypoplasia with ultrasound, magnetic resonance imaging, and postmortem examination.Conclusion: Best to our knowledge, this is the first case that pontine hypoplasia and increased subarachnoid space have been demonstrated prenatally and confirmed by postnatal autopsy.

Paraoxonase 1 (PON1) Q192R and L55M polymorphisms, lipid profile, lipid peroxidation and lipoprotein-a levels in Turkish patients with pregnancy-related disorders.

The aim of this study was to investigate the role of PON1Q192R and L55M single nucleotide polymorphisms(SNPs) and its association with the maternal levels of lipid parameters in gestational diabetes mellitus(GDM) and preeclampsia(PE). Ninety-nine pregnant with GDM, 97 pregnant with PE and 98 healthy pregnant were included in the study. No statistically significant difference was observed in the alleles or in the genotypes frequencies of SNPs between groups. In GDM patients, total cholesterol was higher in MM genotype of L55M gene (p < .05); Lp(a) were lower in LM genotype of the gene compared to their respective control (p < .05). In PE, HDL-C levels were higher in LM genotype (p < .05); LDL-C levels were lower in MM genotype of the gene compared to their respective control (p < .05). In PE patients, malondialdehyde(MDA) were higher in QQ genotype compared to their respective control (p < .05). Triglyceride levels were higher in PE patients with QR genotype compared with GDM patients with QR genotype (p < .05). Our results indicated that lipid profiles, Lp(a) and MDA levels showed significant differences in GDM and PE pregnants. These findings support the importance of the lipid profile, oxidized lipid and Lp(a) in different genotypes of L55M and Q192R in Turkish pregnant women with PE/GDM suggesting their roles in etiopathogenesis in these pregnancy-related disorders.

Aortic arch anomalies detected in foetal life by echocardiography.

Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. In a patient with isolated right aortic arch, 22q11 microdeletion had been revealed. Given this data, we strongly suggest foetal karyotype analysis when aortic arch anomalies are identified. Impact Statement What is already known on this subject: The data about the prenatal diagnosis of aortic arch anomalies are limited. What the results of this study add: In our study, 653 patients were examined by foetal echocardiography during the study period. Thirty three patients who had been diagnosed with aortic arch anomaly prenatally and confirmed after delivery were enrolled in the study. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. Trisomy 18 was detected in the patient with bilateral ductus arteriosus and Di George syndrome (22q11 microdeletion) was determined in two patients with right aortic arch. While in the first patient, there were no other intracardiac anomalies; in the second patient with 22q11 microdeletion, Fallot tetralogy accompanied the right aortic arch. What the implications are of these findings for clinical practice and/or further research: This results showed that aortic arch anomalies can be associated with genetic anomalies even when they are found without other congenital heart disease. Given these data, we strongly suggest foetal karyotype analysis and genetic testing when aortic arch anomalies are identified.

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.