Fetal left ventricular myocardial performance index measured at 11-14 weeks of gestation in fetuses with an increased nuchal translucency.

OBJECTIVE: This study aimed to evaluate the effect of an increase in nuchal translucency (NT) thickness on the myocardial performance index (MPI) in fetuses without cardiac anomaly in the first trimester and to determine whether a difference in MPI between those with and without trisomy 21 in these fetuses could be determined. METHODS: The study group consisted of 53 pregnancies complicated with increased NT thickness without any associated structural anomalies. Forty-six gestational age-matched pregnant women whose fetuses had normal NT thickness were enrolled as the control group. RESULTS: In the increased NT thickness group, the mean isovolumetric relaxation time (IRT) value (0.050 ± 0.011 s) was significantly higher and the mean ejection time (ET) value (0.149 ± 0.010 s) was significantly lower than those values in the normal NT thickness group (0.045 ± 0.005 and 0.155 ± 0.009 s, p = 0.023 and p = 0.009, respectively). We found a significantly higher mean left MPI value in the increased NT thickness group (0.574 ± 0.153) versus the normal NT thickness group (0.487 ± 0.107, p < 0.001). Within the increased NT thickness group, the mean left MPI value was similar in the fetuses with normal karyotype and those with trisomy 21 (p = 0.419). CONCLUSION: We demonstrated a significantly greater mean MPI value in the increased NT thickness group than in the normal NT thickness group. Within the increased NT thickness group, no differences in the left MPI value in the fetuses with normal karyotype and the fetuses with trisomy 21 were found.

A new and more effective feticide technique in late termination of pregnancy: potassium chloride injection into the interventricular septum of the fetal heart.

OBJECTIVE: This study sought to compare the efficacy and outcomes of fetal intracardiac intraventricular and interventricular septal potassium chloride (KCl) injections during the induced fetal demise process in a cohort of pregnant women with severe fetal abnormality who opted for late termination of pregnancy (TOP). MATERIALS AND METHODS: This study consisted of 158 pregnant women who requested late TOP for severe fetal abnormality between 22 and 36 weeks of pregnancy. Participants were randomly assigned with the simple randomization procedure to one of two feticide procedure groups: the intraventricular KCl injection group and the interventricular septal KCl administration group. We studied the clinical outcomes of both the feticide procedures. RESULTS: The median total dose of strong KCl was significantly lower in the interventricular septal KCl administration group (3 mL) than in the intraventricular KCl injection group (5 mL, p < 0.001). The median time to reach asystole and the median total duration of the procedure was significantly shorter in the interventricular septal KCl administration group (42 s and 85 s, respectively) than in the intraventricular KCl injection group (115 s and 150 s, respectively, p < 0.001). We detected a statistically significant correlation between the gestational week at feticide and the total dose of KCl (r = 0.705, p < 0.001), time to reach asystole (r = 0.653, p < 0.001), and total duration of the procedure (r = 0.683, p < 0.001). CONCLUSION: KCl administered directly into the interventricular septum induces immediate and permanent fetal cardiac asystole with a 100% of success rate without comprising maternal safety. We did not observe any maternal complications related to the procedure in our cases. Since the consequences of failed feticide procedure are challenging for both parents and healthcare providers, and providers are also concerned about potential legal implications regarding an unintended live birth, it is crucial to guide a strict protocol to confirm permanent fetal cardiac asystole.

Serum autotaxin levels correlate with the severity of pruritus in intrahepatic cholestasis of pregnancy.

PURPOSE: This study aimed to examine autotaxin (ATX) concentrations in the serum of pregnant women complicated with intrahepatic cholestasis of pregnancy (ICP) and compare them with individuals with uncomplicated healthy pregnancies. METHODS: This prospective case-control study took place with 83 pregnant women. The study group included 43 pregnant women presenting with a singleton pregnancy diagnosed with ICP in their third trimester of pregnancy. The diagnostic power of the ATX variable was examined by receiver operating characteristic analysis, and the cut-off value calculated according to the Youden index was summarized with the related sensitivity and specificity points. RESULTS: The mean serum concentration of maternal ATX was significantly higher in the ICP cases (8.91 ± 2.69 pg/mL) compared to the pregnant women in the control group (3.59 ± 1.39 ng/mL, p < 0.001). According to the Youden index, a 5.80 ng/mL cut-off value of serum ATX concentrations can be used to diagnose ICP with 97.7% sensitivity and 97.5% specificity. A significant highly positive correlation was found between maternal serum ATX levels and maternal serum total bile acid levels (r = 0.633 and p < 0.001) and itch intensity, which was objectified by the visual analog scale score (r = 0.951 and p < 0.001). CONCLUSION: Maternal serum ATX levels were significantly increased in ICP patients as compared with healthy pregnant women. Also, serum ATX activity was highly correlated with the itch intensity. We consider that ATX might represent a robust, accurate, and reliable circulating biomarker to diagnose ICP.

The effect of medical ozone therapy in addition to ovarian detorsion in ischemia reperfusion model.

This study aimed to investigate the protective effect of ozone therapy on ovarian reserve, number of ovarian follicles, ovarian morphology in a rat ischaemia reperfusion (IR) injury model. Twenty-four, Wistar Hannover rats were included. The rats were divided into three groups as control, detorsion-only, and ozone therapy + detorsion groups. There was a statistically significant difference in the follicular damage and inflammation scores between the study groups (p = .019, p = .002, respectively). The highest AMH decrease was observed in the detorsion-only group (p = .012). The total damage score was higher in the detorsion-only group than the ozone therapy + detorsion group. Preantral, small and large antral follicle numbers were less in the detorsion-only group than the ozone therapy + detorsion group. The highest postoperative day 7 TAS level was in the ozone therapy + detorsion group. TOS levels did not differ significantly between the study groups. The combination of the ozone therapy with ovarian detorsion is more effective in protecting the ovarian reserve than ovarian detorsion-only.Impact StatementWhat is already known on this subject? Adnexal torsion is a common gynecological emergency in reproductive-age women. The recommended management is the detorsion of the adnexal pedicle in patients with fertility desire.What do the results of this study add? The combination of the medical ozone therapy with conventional surgical ovarian detorsion is more effective in the protection of the ovarian reserve compared to surgical ovarian detorsion.What are the implications of these findings for clinical practice and/or further research? This study speculates that medical ozone therapy in addition to conventional surgical ovarian detorsion could preserve ovarian reserve and function if confirmed in further clinical studies.

Increased maternal serum aquaporin 9 levels in pregnancies complicated with gestational diabetes mellitus.

INTRODUCTION: This study aimed to examine maternal serum aquaporin 9 levels in pregnant women with gestational diabetes mellitus and to compare them with non-diabetic pregnant women. METHODS: Forty-one pregnant women between 37 and 39 weeks of gestation complicated with gestational diabetes mellitus and 39 non-diabetic pregnant women at similar gestational weeks without additional obstetric complications were included in this cross-sectional study. Maternal serum aquaporin 9 levels and leptin levels of the cases were measured. RESULTS: Maternal serum leptin and aquaporin 9 levels in pregnant women with GDM were found to be significantly higher than in the control group (p < .001). In the study group, first-minute Apgar scores were significantly lower and birth weight significantly higher (p = .001 and .005, respectively). A weak but significant positive correlation between aquaporin 9 levels and maternal body mass index (r = 0.279, p = .012), birth weight (r = 0.433, p < .001), and hemoglobin A1c (r = 0.354, p = .001) levels was detected. A significant positive correlation was detected between maternal serum aquaporin 9 levels and leptin levels (r = 0.331, p = .003). CONCLUSION: The increased aquaporin 9 levels detected in cases with gestational diabetes mellitus might be a marker of the poor maternal metabolic environment specific to diabetes and might contribute to the pathophysiology of gestational diabetes.

Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma

Objective: To investigate the frequency and types of chromosomal abnormalities in fetuses with the aberrant right subclavian artery (ARSA) and to evaluate its association with other ultrasonographic findings. Materials and Methods: In all, 11,666 fetal anatomic surveys were performed between March 2014 and March 2020. The cases diagnosed as ARSA were examined. Accompanying ultrasound findings and chromosomal abnormalities were collected. Results: ARSA was detected in 140 fetuses (1.2%). The ARSA appeared isolated in 47.1% (66/140) of cases and the remaining 52.9% (74/140) of cases were associated with cardiac or extracardiac malformations and soft markers. Chromosomal abnormalities were detected in 17.8% (25/140) of all cases. Trisomy 21 was the most common chromosomal anomaly with a prevalence of 11.4% (16/140). The corresponding rate was 3% (2/66) and 18.9% (14/74) for isolated and non-isolated ARSA, respectively. DiGeorge syndrome was detected in 3% (n=2) and Turner syndrome was in 3% (n=2) of the isolated group. ARSA was not an isolated finding in any of the 4 fetuses with trisomy 18. Conclusion: Isolated ARSA may be the only antenatal predictor of trisomy 21 or other chromosomal anomalies, including DiGeorge or Turner syndrome. Hence, visualization of the right subclavian artery should be a part of the fetal anatomic survey and genetic analysis should be recommended even in the absence of associated findings.

Blake's pouch cyst: Prenatal diagnosis and management.

OBJECTIVE: This study aimed to present the characteristic features of 19 patients who were diagnosed as having Blake's pouch cyst (BPC) at our center. MATERIALS AND METHODS: Nineteen patients diagnosed as BPC between 2015 and 2019 were included in this retrospective study. Follow-up examinations were performed using ultrasonography (US) every three weeks up to 35 weeks of gestation. Prenatal magnetic resonance imaging (MRI) was performed at the time of diagnosis or during follow-up in 13 patients. MRI or transfontanellar US was performed to confirm the diagnosis of BPC after delivery. Karyotype results of eight patients were recorded. RESULTS: Isolated BPC was observed in 9 (47%) patients, and associated anomalies were detected in 10 (53%) patients, including seven (36%) with the central nervous system and four (21%) with cardiac anomalies. Two fetuses had abnormal karyotype analysis as trisomy 21 and 13. The MRI report of eight patients was "differential diagnosis required for Dandy-Walker complex" and only in five (26%) patients, it was reported to be compatible with BPC. Spontaneous resolution was seen in four patients. Postnatal MRI was performed in five patients, and transfontanellar US in two patients, and all MRI and US results were consistent with BPC. During the neonatal period, abnormal neurologic development was observed in four (21%) patients, and one (5%) died. CONCLUSION: Although the prognosis of isolated BPC is very good with healthy neurologic development until advanced ages, death in the early neonatal period and abnormal neurologic development may be observed depending on the condition of the associated anomalies.

MATERNAL GUT MICROBIOTA IN PREGNANCIES RESULTING IN DOWN SYNDROME NEWBORNS - A PILOT STUDY.

Down syndrome (DS) is one of the main genetic abnormalities of newborns. Therefore, prenatal diagnosis of this syndrome is of paramount importance to the family and the community. The microbiota system is important in early brain development. We tried to study and compare gut microbiota (GM) composition in pregnancies that resulted in DS neonates with pregnancies that resulted in healthy children. The study population consisted of 21 pregnant women having delivered DS newborns (group 1) and 22 pregnant women who had given birth to healthy newborns (group 2). The GM composition was determined and compared between the two groups. There were no significant age and gestational age differences between the two groups (p>0.005 both). Regarding GM analysis, microorganisms of the families Clostridiaceae and Pasteurellaceae were more abundant in the group of women having delivered DS neonates than the group of women having delivered healthy newborns (p<0.05). The results of our pilot study showed that the GM system might have a role in the pathophysiology of DS. The GM changes may be used in the prenatal diagnosis and prevention of this syndrome. Further studies are needed in this field.

Fetal cardiac tumors: prenatal diagnosis, management and prognosis in 18 cases

Objective: To evaluate the long-term follow-up of patients with fetal cardiac tumors (FCTs), and to review the literature regarding advances in diagnosis and management of FCTs in the last decade. Material and Methods: In this retrospective study, pregnant women referred to a single center maternal-fetal medicine unit between 2013 and 2018 for advanced ultrasonography, were reviewed. Pediatric cardiology counseling was offered to women whose fetuses had FCTs. All patients were evaluated according to revised diagnostic criteria for tuberous sclerosis complex (TSC). Medical treatment was administered to patients with FCTs ≥30 mm or if they were symptomatic. Everolimus therapy at a dose of 2x0.25 mg twice a week for three months was started in the postnatal period. Results: Out of the 75,312 patients referred 18 (0.024%) were diagnosed with FCTs. Six were referred with fetal arrhythmias and the others were diagnosed with FCTs during routine follow-up. Ten patients (55%) with FCTs were diagnosed with TSC. All tumors were assessed to be rhabdomyoma. Mean tumor diameter in fetuses with TSC was significantly larger than those without TSC (29.8±14.1 mm versus 9.3±4.8 mm, respectively; p=0.004). All patients (n=2) who received medical therapy had a diagnosis of TSC and multiple FCTs and a reduction in tumor size occurred. Tumor size decreased in eight patients spontaneously during follow-up, but increased in one patient who had multiple locations but no TCS. No change in size was observed in the remaining seven cases. None of the fetuses died during the 1-5 year follow-up period. Conclusion: Rhabdomyoma are usually multiple and associated with TSC. Rhabdomyomas with TSC are larger, but most regress spontaneously or respond well to medical treatment after birth, and have an excellent long-term prognosis.

Maternal serum TXNDC5 levels and thiol/disulfide homeostasis in preeclamptic pregnancies.

Objective: To investigate thiol/disulfide homeostasis (TDH) and thioredoxin domain-containing 5 (TXNDC5) level in early and late-onset preeclampsia.Material and methods: In this cross-sectional study, 24 pregnant women with early-onset preeclampsia and 26 pregnant women with late-onset preeclampsia were compared with 30 pregnant women with no obstetric complications. The serum TXNDC5 levels and thiol/disulfide homeostasis were measured.Results: Serum TXNDC5 levels were significantly higher in the early-onset and late-onset preeclampsia groups compared with the control group (p < .05). Native thiol and total thiol levels were significantly lower in the early-onset and late-onset preeclampsia groups than control group. The disulfide levels were found as significantly high in early preeclamptic patients compared to control group (p < .05). The highest levels of TXNDC5 and the lowest levels of native thiol and total thiol were found in early-onset preeclampsia group. No significant difference was found between the patients with early onset and late onset preeclampsia regarding TXNDC5 levels and thiol/disulfide homeostasis (p > .05).Conclusion: Serum TXNDC5 levels were significantly higher in patients with early-onset and late-onset preeclampsia. The dynamic thiol/disulfide homeostasis was impaired in favor of the oxidized state in patients with preeclampsia.

Maternal serum galectin-1 and galectin-3 levels in pregnancies complicated with preterm prelabor rupture of membranes.

Objective: To investigate maternal serum galectin-1 and galectin-3 levels in pregnancies complicated with preterm prelabor rupture of membranes (PPROM) and to compare with pregnancies delivered at term.Materials and methods: In this cross-sectional study, 40 women with singleton pregnancies complicated with PPROM between 24 and 34 weeks of gestation were compared with gestational age-matched 40 pregnant women with no obstetrics complications, who delivered at term. The maternal serum galectin-1 and galectin-3 levels were measured.Results: Patients complicated with PPROM had significantly higher levels of galectin-1 (p = .001) and galectin-3 (p = .003) than the control group. Maternal serum galectin-3 levels were found significantly negatively correlated with the gestational age at delivery and birth weight.Conclusion: Maternal serum galectin-1 and galectin-3 levels were significantly higher in pregnancies complicated with PPROM. Galectin-1 and galectin-3, with their regulatory effects in key biological processes, may be both an initiating factor in the pathophysiology of PPROM, a marker in the prediction, and a target of preventing strategies of PPROM.

The assessment of cardiac function with tissue Doppler imaging in fetuses with congenital diaphragmatic hernia.

Introduction: This study aimed to evaluate the cardiac function of fetuses with congenital diaphragmatic hernia by conventional echocardiography and spectral tissue Doppler imaging (s-TDI) and to evaluate the relationship between cardiac function and the severity of pulmonary hypoplasia. We also aimed to investigate the effect of diaphragmatic hernia side on fetal cardiac function.Methods: Fetal cardiac function were evaluated in 28 fetuses (20 with left-sided and 8 with right-sided) complicated with isolated congenital diaphragmatic hernia (CDH) and 56 gestational age matched control in this single center prospective study. s-TDI measurements were obtained at the right atrioventricular valve annulus. The annular peak velocities and their ratios, the time periods of cardiac cycle and myocardial performance index were calculated.Results: In comparison to controls, significantly prolonged isovolumetric contraction time (ICT') and isovolumetric relaxation time (IRT') and, significantly shortened ejection time (ET') were observed in fetuses with CDH by s-TDI. Fetuses with CDH also had higher myocardial performance index (MPI') z-scores compared to controls. There were no significant differences in terms of s-TDI cardiac function parameters between fetuses with right- and left-sided CDH. In correlation analysis, a significant positive correlation was found between ET' value and o/e LHR.Conclusion: The signs of both systolic and diastolic altered function were observed in fetuses with CDH with s-TDI independent of the side of the hernia, and a significant positive correlation was observed between fetal cardiac systolic function and the severity of pulmonary hypoplasia.

Prenatal diagnosis of left pulmonary artery sling and review of literature.

Left pulmonary artery sling (LPAS) is a very rare cause of large airway compression. In LPAS, the left pulmonary artery (LPA) arises from the proximal right pulmonary artery, coursing over the right mainstem bronchus, posterior to the trachea and anterior to the esophagus prior to reaching the left hilum. The aberrant course of the LPA results in anatomical obstruction of the right mainstem bronchus, the trachea, or both. Only a few reports present the prenatal features of LPAS. In this report, we present the prenatal diagnosis of a case of LPAS in one of a set of identical twins in which the only feature was that of an abnormal course of the LPA on 3-vessel tracheal view. The cross-sectional view at the level of three vessels which includes both pulmonary artery branches is useful to detect this abnormality. Color and power Doppler may be helpful as well.

How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

Cystic hygroma (CH) is a vascular-lymphatic malformation and can occur either as an isolated finding or as a part of a syndrome. The incidence of CH is about 1:1000-1:6000 births. Ultrasonographic diagnosis of CH is usually obtained in the first trimester, and the lesion can appear in septated or non-septated forms. Increased nuchal translucency and CH have been associated with a wide range of structural and genetic abnormalities. Most of CHs are associated with a number of chromosomal abnormalities especially Trisomy 21, 13, 18 and Turner syndrome. Besides, the associations between CH and non-chromosomal syndromes were also reported and Noonan Syndrome (NS) is one of the leading causes. Approximately 50% of NS cases are caused by mutations in the PTPN11 gene. A novel PTPN11 mutation defined in two separate fetuses with CH and associated with NS phenotype is being reported here.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

Sonographic features and management options of uterine arteriovenous malformation. A case report.

Uterine arteriovenous malformation (AVM), an extremely rare condition, is defined as an abnormal connection between artery and vein. Although the pelvis is a common site for AVM, the uterus is involved occasionally and the true incidence is unknown. The objective of this study was to discuss diagnostic features and management options of AVMs. In this paper six cases of AVMs have been reported with a review of diagnosis and management options.

Prenatal diagnosis of congenital high airway obstruction syndrome (CHAOS). Five case report.

Congenital high airway obstruction syndrome (CHAOS) is an extremely rare life-threatening condition. Laryngeal atresia appears to be the most frequent cause. Generally the diagnosis is made with severely enlarged and highly echogenic lungs and additional ultrasound findings. The prognosis of the affected infants is often poor. Five cases are reported here that were diagnosed in a tertiary center between 2008 and 2014.