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.

Liver Cirrhosis Due to Fetal CMV Infection: A Case Report.

Introduction: CMV is the most common cause of congenital viral infection. We observed a cirrhotic liver and intracerebral hemorrhage due to fetal CMV infection. Case presentation: Fetal CMV infection was diagnosed at 20 weeks of gestation, leading to termination of pregnancy. At fetopsy, the liver was macronodularly cirrhotic with necrosis and CMV inclusions. Intracerebral hemorrhage, seen on the prenatal ultrasound, was confirmed. Discussion/Conclusion: Congenital CMV infection can cause cirrhosis and intracerebral hemorrhage as early as 20 weeks gestation.

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.

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.

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.

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.

Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report.

INTRODUCTION: Isotretinoin, a synthetic derivative of vitamin A, is one of the most potent human teratogens, and is mainly utilized for the treatment of severe recalcitrant nodular acne. Retinoic acid embryopathy is well defined in the literature. CASE REPORT: The mother was referred for a fetal posterior fossa abnormality, first detected at 20 weeks of gestation. The mother used isotretinoin until 18 weeks gestation. Ultrasound examination revealed hypertelorism, cerebellar hypoplasia, vermian agenesis, truncus arteriosus, anotia, thymic aplasia, corpus callosum hypoplasia. An intrauterine diagnosis of fetal retinoid syndrome was confirmed by fetopsy after termination of pregnancy. CONCLUSION: The typical findings of fetal retinoid syndrome can be visualized with ultrasound in early second trimester.

Usefulness of Serum Procalcitonin Levels in Predicting Tubo-Ovarian Abscess in Patients with Acute Pelvic Inflammatory Disease.

We aimed to investigate the clinical importance of serum procalcitonin (PCT) levels in the diagnosis of tubo-ovarian abscess (TOA). Patients diagnosed with pelvic inflammatory disease (PID; n = 36) and patients diagnosed with TOA (n = 42) were included in the study. Sociodemographic characteristics, laboratory and clinical parameters were compared between the 2 groups. Mean PCT level was higher in the TOA group (p = 0.004). Mean length of stay in hospital was longer in patients with TOA (p < 0.001). White blood cell count, neutrophil count, percentage of neutrophils and C-reactive protein levels were higher than normal limits in all patients; however, no differences in these parameters were observed between the groups. A cutoff level of 0.330 ng/ml for PCT revealed 62% sensitivity and 75% specificity in predicting TOA. Serum PCT is a promising inexpensive marker for the diagnosis of TOA in PID patients.

Clinical characteristics and pregnancy outcomes of Syrian refugees: a case-control study in a tertiary care hospital in Istanbul, Turkey.

PURPOSE: We aimed to compare the clinical characteristics and pregnancy outcomes in women who are Syrian refugees and Turkish women who are non-refugees at a maternity center in Istanbul, Turkey. METHODS: A total of 600 singleton pregnancies who delivered at Sisli Hamidiye Etfal Training and Research Hospital were included in the study. Demographic data, obstetrical history, clinical findings, obstetrical and neonatal outcomes were compared between 300 Syrian refugees and 300 control patients. RESULTS: The Syrian refugee patients were significantly younger than Turkish patients. The percentage of adolescents aged 12-19 years were significantly higher in the Syrian patients (14.3 vs. 5.3 %, p < 0,001). 41.3 % of the refugee patients had no antenatal care. However, this ratio was only 7.7 % for the control group (p < 0.001). Preterm birth rates showed no difference between the groups, however, postterm birth rates were significantly higher in the control group. Low Birthweight (<2500 gr), oligohydramnios, stillbirth and fetal anomaly rates were not different between the two groups. CONCLUSIONS: In comparison to non-refugee control patients, refugee women in our study had poor antenatal care but no adverse perinatal outcomes were observed. Further larger multicenter studies may provide more convincing data about obstetric outcomes in the Syrian refugee population as well as adolescent pregnancies in this population.

Expression of PTEN and ß-Catenin and Their Relationship With Clinicopathological and Prognostic Factors in Endometrioid Type Endometrial Cancer.

OBJECTIVE: The aim of this study was to investigate rates of expression of PTEN (phosphatase and tensin homolog deleted on chromosome 10) and ß-catenin and their relationship with clinicopathological and prognostic factors in endometrioid type endometrial cancer (EC). METHODS AND MATERIALS: PTEN and ß-catenin expressions of 59 operated patients with EC between January 2000 and December 2008 and followed-up until December 2014 in Cerrahpasa School of Medicine, Gynecologic Oncology Division, were evaluated retrospectively. Clinical data were obtained from patient files, and pathological data were obtained from pathology records. Each patient had 4 paraffin sections of tumoral tissue. These sections were stained by immunohistochemical methods. Clinical features and postoperative histopathologic findings were analyzed using Fisher exact test or the χ(2) test as appropriate. The Kaplan-Meier method was used to generate the survival curves. RESULTS: During median follow-up of 102 months, tumor recurrence and disease-related mortality were observed in 10 (16.9%) and 7 (11.9%) cases, respectively. Immunohistochemical staining of PTEN and ß-catenin were positive in 61% and 69.5% of all cases, respectively. Positive staining of PTEN was positively correlated with myometrial invasion (P= 0.02). There was no correlation between ß-catenin and clinicopathological factors. PTEN or ß-catenin positivity were not significant prognostic factors for 5-year overall survival (P = 0.37, P = 0.62, respectively) and 5-year disease-free survival (P = 0.28, P = 0.58, respectively). CONCLUSIONS: PTEN and ß-catenin expressions cannot be used to determine prognosis in patients with EC as PTEN and ß-catenin staining status were found to have no significant effect on 5-year overall survival and disease-free survival. Positive staining of PTEN may be associated with increased myometrial invasion. Meta-analyses and broader studies are needed to evaluate the prognostic value of PTEN and ß-catenin in EC.

Iodine status of pregnant women in a metropolitan city which proved to be an iodine-sufficient area. Is mandatory salt iodisation enough for pregnant women?

The objective of this study was to assess the iodine status of pregnant women in a metropolitan city which was stated as iodine sufficient area after salt iodination program. This multicenter, cross-sectional study was carried out on 3543 pregnant women. Age, gestational weeks, smoking, consumption of iodized salt, dietary salt restriction, history of stillbirth, abortus and congenital malformations were questioned. Spot urine samples were analyzed for urine iodine concentration (UIC). The outcomes were: (a) median UIC in three trimesters of pregnancy and (b) frequency of ID among pregnant women. The median UIC was 73 µg/L. The median UIC was 77 µg/L (1-324), 73 µg/L (1-600) and 70 µg/L (1-1650) in three trimesters of pregnancy, respectively (p: 0.14). UIC <50 µg/L was observed in 36.6% (n: 1295) and UIC<150 µg/L was observed in 90.7% (n: 3214) of pregnant women. Only 1% (n: 34) of the pregnant women had UIC levels higher than 500 µg/L. This study showed that more than 90% of the pregnant women in this iodine-sufficient city are facing some degree of iodine deficiency during their pregnancy. A salt iodization program might be satisfactory for the non-pregnant population, but it seems to be insufficient for the pregnant population.

Risk factors for recurrence of borderline ovarian tumours: A tertiary centre experience.

The aim of this study was to evaluate the risk factors for recurrence of borderline ovarian tumours. This study investigated 127 women who were finally diagnosed with borderline epithelial ovarian tumours. Most of them were diagnosed in stage I (83.4%). With a median follow-up of 81.8 months (range: 14-205), the median time to recurrence was 22.4 months (range: 3-74). Five-year recurrence-free survival (RFS) and overall survival (OS) rates were 85.8% and 97.6%, respectively. In multivariate analysis, invasive implants and fertility-sparing surgery were found to be independent prognostic factors for 5-year RFS. Overall, 20 patients (15.7%) experienced relapse within the observation period. Although there is no consensus about high-risk category of borderline ovarian tumours, invasive implants and conservative surgery were closely related to the recurrence. Patients presenting these risk factors should undergo closer follow-up.

A case of parasitic myoma 4 years after laparoscopic myomectomy.

We present a case of parasitic myoma complaining of abdominal pain, constipation, dyspareunia and dysmenorrhea 4 years after laparoscopic myomectomy. We performed laparoscopic myomectomy for multiple parasitic myomas. Three myomas were very firmly attached to bowel and mesentery. Parasitic myoma after laparoscopic surgery is very rare condition there are almost 35 cases in the literature. It is related with variable symptoms or can be asymptomatic. Laparoscopic surgeons should be aware of this situation, and further investigation should be made in case of suspicion. Surgery for parasitic myomas can be difficult in case of bowel and mesentery involvement and patient should be informed about the extensive surgery.

Fetal Cytomegalovirus Infection in the Absence of Maternal Cytomegalovirus-IgM Seropositivity.

The aim of this study was to evaluate maternal serological status and fetal sonographic findings of Cytomegalovirus (CMV) infection. This is a retrospective study performed at Perinatology Department of Istanbul Basaksehir Çam and Sakura City Hospital. A computerized search was conducted to identify cases who underwent prenatal diagnosis of fetal CMV infection between September 2020 and December 2023. We identified nine cases with fetal CMV infection. The clinical data of the patients, gestational age at the time of diagnosis, serological, sonographic findings, and pregnancy outcomes were analyzed. A computer search of the database was made for the seroprevalance of CMV-IgM and CMV-IgG in our population. The CMV-IgM and IgG results of the 1235 patients who underwent CMV screening in the first trimester between September 2020 and December 2023 were evaluated. Fetal CMV infection was identified in nine patients. None of the 9 cases showed maternal CMV-IgM positivity. Seven of the 9 patients showed high IgG avidity index. Pregnant population had 98 % positivity for CMV-IgG. The evaluation of serologic tests for CMV is not straightforward in the second and third trimester. IgM and IgG avidity should be interpreted with caution in the second and third trimester. In the presence of ultrasound findings suggesting fetal CMV infection and CMV-IgG positivity, invasive diagnostic tests rather than serological test should be discussed with the patient, and non-primary infections should always be considered to minimize overlooked fetal cytomegalovirus infections and missed antiviral treatment opportunity.

Which is the best technique for endometrial sampling? Aspiration (pipelle) versus dilatation and curettage (D&C).

PURPOSE: To compare diagnostic accuracy and adequacy of pipelle endometrial biopsy with dilatation and curettage. METHODS: From October 2007 to November 2009, 673 patients were evaluated with pipelle endometrium biopsy, D&C and hysterectomy in the Department of Obstetrics and Gynecology, Istanbul University Cerrahpasa Medical Faculty. 478 patients underwent pipelle and D&C, 212 patients underwent pipelle and hysterectomy and 161 patients underwent D&C and hysterectomy. Uterine findings were grouped under five headings: normal, hyperplasia, focal lesion, atypia, and atrophy. Histologic sections from pipelle biopsy or D&C specimens were compared with each other and hysterectomy specimens. Chi-square, Mc.Nemar, and Fisher-exact tests were used as appropriate. The sensitivity, specificity, positive predictive value, and negative predictive value were calculated for each method used in the study. RESULTS: We compared the histological results of pipelle biopsy and D&C. Statistically outcomes of pipelle and D&C were concordant with each other. Concordance rate was 67 % between pipelle and hysterectomy and 70 % between D&C and hysterectomy. Sensitivity of pipelle biopsy in detection of hyperplasia and aytpia was 67 and 75 %, respectively. Sensitivity of D&C for detecting hyperplasia and atypia was 62 and 83 %. NPV of pipelle biopsy and D&C was 99 % for malignancy. CONCLUSIONS: Pipelle biopsy and D&C showed almost equal success rate in the diagnosis of endometrial pathologies. Neither pipelle nor D&C is adequate method for focal endometrial pathologies. Both biopsy methods are not perfect, but pipelle biopsy is a cheaper and easy technique compared with D&C, and ultrasonographic findings of endometrium should be considered prior to endometrial biopsy.

Fetal left ventricular modified myocardial performance index and renal artery pulsatility index in pregnancies with isolated oligohydramnios before 37 weeks of gestation

Objective: The aim was to evaluate fetal left modified myocardial performance index (Mod-MPI) and renal artery Doppler parameters in fetuses with isolated oligohydramnios and a normal amount of amniotic fluid. Material and Methods: This was a prospective cohort study; 25 pregnancies with isolated oligohydramnios and 25 healthy, gestational age-matched controls, between 24+0 to 36+6 weeks of gestation, were recruited. Primary outcome was to compare left modified MPI and mean fetal renal artery pulsatility index (PI). The secondary outcome was to compare adverse perinatal outcomes between the groups. Results: Mean Mod-MPI was significantly higher (p=0.001) and isovolumetric relaxation time was longer (p=0.009) in the isolated oligohydramnios group. Mean renal artery PI values were not different between the groups. Birthweight (p=0.041) and gestational age at birth (p=0.001) were significantly lower, and incidences of delivery before 37 weeks (p=0.034) and Cesarean section due to non-reassuring fetal heart rate testing (p=0.021) were significantly higher in women with isolated oligohydramnios than the control group. We found no significant relationship between Mod-MPI and adverse perinatal outcomes. Conclusion: Fetuses with isolated oligohydramnios have increased left Mod-MPI, which may be due to mild cardiac diastolic dysfunction. Increased Mod-MPI is not associated with adverse perinatal outcomes and does not seem to help in the management of pregnancies before 37 weeks of gestation with isolated oligohydramnios.

Leriche's syndrome and twin pregnancy.

Leriche's syndrome is characterized by chronic obstruction of the abdominal aorta and iliac arteries. A patient with Leriche's syndrome presented with twin pregnancy and severe preeclampsia at 32 weeks' gestation. Cesarean delivery was performed and the patient was admitted to the intensive care unit. Magnetic resonance angiography showed total occlusion of the distal abdominal aorta, common, and external iliac arteries. There were extensive collateral vessels between the lumbar arteries and iliolumbar arteries. The patient was discharged in an improved clinical condition. Leriche's syndrome and pregnancy demonstrating complete aortic, common, and external iliac artery occlusion is very rare in the literature. Despite complete occlusion, viability of the fetus can be achieved with collateral vessels.

Ductus venosus-systemic shunt. Report of six cases and systematic review of the literature.

Objective: To evaluate the ultrasonographic features and pregnancy outcomes in women with ductus venosus-systemic shunt and systematic review of the literature.Method: A computerized search was conducted to identify cases of ductus venosus-systemic shunt between September 2016 and January 2018. Six patients were identified. Antenatal records and neonatal outcomes are presented. A systematic Embase, SCOPUS, and Medline search of published literature from 1991 to 2018 was performed using the terms "ductus venosus," "agenesis," "absence," "absent," "missing," "aberrant," and "variant."Results: Additional structural anomaly such as esophageal atresia with tracheoesophageal fistula was observed in one case. In other case, termination of pregnancy was performed due to Down syndrome. Other two of the six fetuses were monochorionic multiple pregnancies. In our review of the literature, additional anomalies were observed in 9 (42%) of the 21 cases.Conclusion: Our observation suggests that ductus venosus-systemic shunt can be associated with Down syndrome. Detailed examination should be performed to rule out additional abnormalities. Prognosis is good if the pathology is isolated.