Molecular analysis of 31 cases with fetal skeletal dysplasia.

OBJECTIVES: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. RESULTS: Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. CONCLUSIONS: Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.

Effect of Maternal Ursodeoxycholic Acid Treatment on Fetal Atrioventricular Conduction in Patients with Intrahepatic Cholestasis of Pregnancy.

INTRODUCTION: The aim of this study was, first, to investigate the difference in fetal atrioventricular conduction in patients with and without intrahepatic cholestasis of pregnancy (ICP) by measuring the fetal PR interval; second, to evaluate the altering effect of ursodeoxycholic acid (UDCA) treatment on the fetal PR interval in ICP patients. METHODS: The study consisted of 42 ICP patients and 48 healthy pregnant women. Fetal echocardiography was performed to measure the mechanical PR interval. The fetal PR interval and the clinical characteristics were compared between the two groups. The effect of UDCA treatment on the fetal PR interval in ICP patients was evaluated. RESULTS: In ICP patients, significantly longer fetal PR intervals were observed than in the control group (123.21 ± 8.54 vs. 115.13 ± 5.95 ms, p < 0.001). In the ICP group, there was a positive correlation between the fetal PR interval and maternal fasting total bile acid (TBA) levels (r = 0.514, p = 0.001). After 1 week of treatment with UDCA in patients with ICP, the PR interval was shorter than before, although the reduction was not statistically significant (120.98 ± 6.70 vs. 123.21 ± 8.54 ms, p = 0.095). In patients with severe ICP (TBA >40 mmol/L, n = 10), a significant reduction in the fetal PR interval was observed after treatment with UDCA (127.5 ms [IQR, 118.0-134.75] before vs. 122 ms [IQR, 109.5-126.5] after, p = 0.037). CONCLUSION: Fetal PR interval increased in ICP patients in correlation with maternal serum TBA concentration. Treatment with UDCA may have limited positive effects on the fetal AV conduction system. The beneficial effects of UDCA on the fetal PR interval may be more pronounced in patients with higher bile acid levels.

Ultrasonographic evaluation of fetal posterior fossa anomalies: Six years experience of a tertiary center.

PURPOSE: The aim of this study is to reveal ultrasonographic features, associated anomalies and genetic errors in posterior fossa anomalies. As secondary aim postnatal outcomes of the cases were reviewed. METHODS: We conducted a retrospective case series from 2018 to 2024 involving fetuses with posterior fossa anomalies (PFA). Terminated cases confirmed by radiologic and postmortem pathologic findings and cases confirmed by postnatal clinical findings were included in the study. RESULTS: A total of 138 cases were included. In 81 (59%) cases there were multipl anomalies including cranial anomalies other than posterior fossa in 31 (22%) and non-central nerve system anomalies in 69 (50%) cases. Of the 94 cases born, 28 (20%) died within a median of 2 months, within 1.5 years at the latest. Of the 66 (48%) cases still living, 30 (22%) have neurodevelopmental delay in Denver II Turkish standardized test. CONCLUSIONS: It is crucial to have accurate and standardized prenatal classification and a multidisciplinary approach in fetuses with PFA. Specific ultrasonographic findings may be diagnostic especially where fetal MRI is not always available. We offer "arrow sign" to be tested whether it is accurate to diagnose Joubert syndrome by ultrasonography.

Incidence of unexpected leiomyosarcoma in a Turkish province: a retrospective multi-centre study in a low income setting.

The aim of the current study was to estimate the incidence of unexpected leiomyosarcoma (LMS) in patients who underwent surgery due to leiomyomas in Konya province, and to contribute to the literature discussing comparisons with similar studies. The digital archives of eight high-volume hospitals were studied for surgeries performed due to leiomyomas between January 2012 and January 2019, and leiomyosarcoma incidence was calculated based on the data obtained. Twenty-one patients in 3703 cases were found to have unexpected leiomyosarcoma, which means we can expect one leiomyosarcoma in 176 (0.56%) surgeries. Six more malignant tumours were detected among the remaining cases. Thus, our study estimated the incidence of unexpected leiomyosarcoma as 1/176 (0.56%), which is higher than most of the studies in the literature justifying the debate started by the FDA in 2014. As the tumour biology is not yet clear, and the incidence of unexpected leiomyosarcoma tends to be so high, the key focus must be to try to detect uterine leiomyosarcomas preoperatively for robust patient care.IMPACT STATEMENTWhat is already known on this subject? The incidence of unexpected leiomyosarcoma varies widely from 1/498 to 1/8300 depending on the study method and the type of procedure, and there is still controversy, even after the FDA statement that led to a major restriction in laparoscopic surgeries due to concerns about inadvertent morcellation of leiomyosarcomas.What do the results of this study add? To the best of our knowledge, the current study found the highest incidence of unexpected leiomyosarcoma, and consequently a serious evaluation of all patients undergoing surgery due to leiomyomas preoperatively considering a leiomyosarcoma candidate is recommended.What are the implications of these findings for clinical practice and/or further research? Studies on tumour biology and novel markers must be supported for accurate preoperative diagnosis of leiomyosarcoma.

Effect of Obesity on Clinical Parameters and Pregnancy Rates in Women with Polycystic Ovary Syndrome Undergoing Ovulation Induction Cycles.

OBJECTIVE: To evaluate the effect of obesity on clinical parameters and pregnancy rates in infertile women with polycystic ovary syndrome (PCOS), who have undergone ovulation induction. STUDY DESIGN: This retrospective study included 177 women with PCOS who presented to our gynecological endocrinology outpatient clinic for diagnosed infertility. All of the patients initially received clomiphene citrate (CC), and if CC resistance was noted, gonadotropins were used. The patients were classified into 2 groups according to BMI (<30 kg/m2=control group and ≥30 kg/m2=study group). Pregnancy was assessed by ß-hCG levels and a visible gestational sac in the endometrium. RESULTS: The demographic and hormonal parameters were similar between the groups. The mean duration of infertility was longer in the study group (p<0.05). In the study group, cycle cancellation due to CC resistance (p=0.039) and mean baseline LH levels (p=0.026) was statistically more likely than in the control group. On follow-up, 4 (9.3%) patients in the study group had conceived and 26 (19.4%) patients in the control group had conceived (p=0.041). CONCLUSION: Obesity adversely affects pregnancy rates in women with PCOS who undergo ovulation induction cycles. Clinicians should recommend weight loss in these patients before ovulation induction.

Hemangiopericytoma of the uterus: a rare case of pelvic mass.

Hemangiopericytoma (HPC) is an uncommon perivascular tumor which may arise from anywhere in the body accounts for 1% of primary vascular tumors. Uterine hemangiopericytomas are usually low grade malignancies with better prognosis. The primary treatment is usually total hysterectomy and bilateral salpingo-oophorectomy. In this report, we aimed to evaluate the clinical characteristics of an 83 years of woman admitted to our clinic with pelvic mass who underwent laparotomy and underwent total hysterectomy and bilateral salpingo-ooforectomy. Postoperative pathology was hemangiopericytoma.

Retention of fetal bones 8 years following termination of pregnancy.

Foreign bodies; in particular, fetal bones may present with a variety of clinical symptoms and signs including infertility, vaginal discharge, disparonia, pelvic pain, abnormal uterine bleeding. Many case reports were described post- abortal removal of retained fetal bone at varying time intervals from the previous (D&E), ranging from weeks to years. In our case, a 34-year-old woman presented with abnormal uterine bleeding and secondary infertility, her only pregnancy being a termination 8 years previously at 15 weeks' gestation. A transvaginal ultrasound revealed a normal-sized, normal-shaped uterus with an echogenic scarred endometrium. After then office hysterescopy revealed fragments of the immature bone. All the immature bones were removed by operative hysterescopy. Significant numbers of patients may have endometrial pathology; the differential diagnosis of such unusual findings on ultrasound examination includes intrauterine contraceptive devices, foreign bodies, calcified submucous fibroids and Asherman's syndrome, as well as rarities such as heterotopic bone. The presence of this pathology may be a causal or contributory factor to subfertilty, and will remain undetected if the endometrium is not routinely evaluated. Indeed, these cases highlight the advantage of performing a hysteroscopy at the same time as the more invasive laparoscopy and dye insufflation, in selected cases.

A new approach for the management of bladder injury in retropubic slings: one side transobturator/ one side retropubic sling.

The aim of this study was to establish a new management modality for bladder perforation during retropubic slings. In 2013, among 102 retropubic slings, there were five bladder injuries. All procedures were performed by one of the fourth year residents under direct supervision of experienced surgeons. Bladder perforation was detected in cystoscopic examination. In the bladder perforated side, tape was retracted and placed by transobturator approach and the Foley catheter remained in place for seven days. Demographic features, preoperative urodynamic examination, and preoperative and postoperative life quality questionnaires (IIQ-7 and UDI-6) were recorded. The mean age of the patients was 44 ± 2.5 years and body mass index was 29.4 ± 1.7 kg/ m2. Mean parity was 2.8 ± 1.8 and all the patients delivered with vaginal route. None of the patients were in menopause. Of the five bladder perforations, 40%(2) occurred on the right side, 60%(3) on the left side. All the surgeons were right handed. All patients underwent other vaginal reconstructive procedures like anterior colporraphy and posterior colporraphy. None of the patients had previous anti-incontinence surgery. Mean follow-up was 10.2 ± 2.4 months. All patients had negative stress tests and improvement in IIQ-7 and UDI-6 at postoperative sixth month. There was no postoperative voiding dysfunction in any of the patients. If bladder perforation occurs in patients who undergo retropubic sling, the tape can be placed by transobturator approach in the bladder perforated side.

Clinical and genetic aspects of termination of pregnancy; tertiary center experience.

Objective: The aim of the study was to retrospectively analyze the indications Techniques and complications of pregnancy termination performed in a tertiary center. Materials and Methods: All cases between 10 and 33 weeks of gestation between January 2021 and June 2023 were retrospectively analyzed. The patients were divided into two groups as group 1 with 11+0 to 21+6 gestational weeks and group 2 for those at 22+0 and 33+0 gestational weeks. Results: A total of 568 pregnancy terminations were included in the study. Among all terminations the most common fetal indications were central nervous system anomalies (148 cases, 26%) and trisomy 21 (53 cases, 9%) and the most common maternal/obstetrical Indication was previable premature rupture of the membranes (179 cases, 31.5%). Abnormal genetic results were found in 50 of 173 cases (28.9%) with a termination indication of Structural malformation who accepted invaziv genetic testing. The number of terminations with fetal indications performed after 22 weeks were 148 (41%) and 11 (7.4%) cases of these late terminations of pregnancy were anomalies expected to be diagnosed in the first trimester. Complication rates (12.4%) and abdominal termination rates (3.5%) were significantly higher in group 2 than in group 1 (p<0.05). Conclusion: Improvements in prenatal genetic screening and diagnostic techniques will undoubtedly decrease the gestational ages in terminations of pregnancies. However, there will always be cases that can neither be diagnosed earlier nor can be treated due to the nature of the anomaly. In the management of such cases, terminations will always occupy an important place in prenatal care.

Can we predict the need for postnatal surgery in patients with prenatal fetal lung masses detected by CVR value?

AIM: The purpose of this study is to evaluate whether CPAM-volume ratio (CVR) can predict postnatal management (follow up for resolution and surgical treatment) in fetuses with fetal lung masses in the prenatal period. MATERIALS AND METHODS: 44 patients who presented at our center with prenatally diagnosed CPAM (Congenital Pulmonary Airway Malformation) and BPS (Bronchopulmonary Sequestration) were analyzed. Obstetric history and outcomes, karyotype results, CVR, additional sonographic findings, characteristics of masses were recorded. CVR was calculated for all cases. In the study we sought to identify a CVR threshold and did not use the thresholds classically used in the literature. RESULTS: 20 fetal BPS and 24 CPAM cases were analyzed. After excluding 5 patients, 46% of the patients were diagnosed with BPS and 54% with CPAM. In this study the cut off < 0,53 for CVR is taken, it predicts the no need for postnatal surgery with a sensitivity of 85% and a specificity of 88%. When we take the > 0,76 cut-off value for patients who will require emergency surgery within the first 10 days, it predicts the need for surgery with 90% sensitivity and 89% specificity. In addition, it was determined that all patients with mediastinal shift were operated. CONCLUSION: We believe that the CVR value and the presence of mediastinal shift should be evaluated in all cases of CPAM and BPS for prediction of the surgery. Proper counseling about the prognosis could be given to the family in cases with mediastinal shift and CVR value above 0,76.

Aspartate aminotransferase to platelet ratio index (APRI) score: is it useful in patients with intrahepatic cholestasis of pregnancy?

OBJECTIVE: It is aimed to evaluate the efficacy of using aspartate aminotransferase (AST)/platelet count ratio [AST to platelet ratio index (APRI) score] in ICP patients. METHODS: This study was carried out including 101 patients diagnosed with ICP (72 patients with mild ICP and 29 patients with severe ICP). Laboratory tests and neonatal outcomes of both groups were analyzed retrospectively. APRI scores were compared between the two groups. Receiver operating characteristic (ROC) analysis was used to evaluate the performance of the APRI score in determining the severity of ICP and the prediction of adverse neonatal outcomes. p < .05 was considered to be a statistically significant result. RESULTS: Patients with severe ICP had higher APRI scores than patients with mild ICP (p < .001). The cutoff value for the APRI score was 1.06, with 82% sensitivity and 72% specificity. There was also a significant positive association between APRI score and fasting bile acid level (r = 0.445, p < .001). In addition, elevated APRI scores were associated with meconium-stained amniotic fluid, neonatal intensive care unit admission and preterm delivery. CONCLUSION: The APRI score may not be the perfect differentiating method for the severity of ICP but it may help the clinician working with limited resources.

Evaluation of the tear parameters of ovulation induction patients in a short time period with anterior segment optical coherence tomography.

PURPOSE: The effects of sex steroid hormones on tearparameters are known. Theaim of this studywas to examine the effects on tear parameters during exposure to high-dose sex steroids in a short period of time. METHODS: Forty patients who were admitted to the infertility clinic of our hospital and planned to undergo ovulation induction with exogenous gonadotropins were included in our study. Prior tothe initiation of ovulation induction, the basal levels of estradiol were measured on day 3 of the menstrual cycle and ophthalmologic examinations were performed by the ophthalmology department of our hospital. The estradiol levels were-measured on the day ofovulation induction usinghuman chorionic gonadotropin and compared with basal estra-diol; eye examinations were also repeated. RESULT: Forty women with reproductive period and average age of 33.3 ± 4.2 years were included in this study. Basal levels of estradiol were significantly (p<0.001) higher after ovulation induction than before induction. The scores in the break-up timeand after induction were 6.2 ± 2.8 sn and 8.4 ± 1.4 sn, respectively. The values of Schirmer's test were 14.3 ± 7.1 mm and 20.6 ± 6.2 mm before and after induction, respectively. Both values were significantly higher after ovulation induction (p<0.001; p=0.001, respectively). CONCLUSION: We observed impro-vemet in tear function tests following the use of estradiol even for a limited time.The use of estradiol during menopause may improve dry eye symptoms in patients.

Serum and placental periostin levels in women with early pregnancy loss.

OBJECTIVES: Periostin is secreted from the placenta in the embryonic period and it is emphasized that it may be involved in endometrial implantation. In this study, we aimed to investigate periostin serum levels and placental tissue expression in first trimester pregnancy losses. STUDY DESIGN: In this prospective case-control study, 30 patients who underwent dilatation and curettage with first trimester spontaneous abortion (<10 weeks of gestation) were included in the study group and 30 patients who had voluntary pregnancy termination (<10 gestational weeks) were included in the control group. Serum samples collected from the study and control groups were analyzed usingenzyme-linkedimmunosorbent assay (ELISA), and trophoblastic and decidual tissues were examined using immunohistochemical staining with streptavidin-biotin-peroxidase techniques. RESULTS: There were no significant differences between the groups in terms of age, gravida status, parity number, gestational week, and number of previous abortions. In the spontaneous abortion group, the serum level of periostin was significantly lower than in the voluntary termination group (6.56 ± 4.16 pg/mLvs. 9.51 ± 4.52 pg/mL, p = 0.03). There was no significant difference between the two groups in terms of periostin expression in decidual and trophoblastic tissue (p = 0.617, p = 0.274, p = 0.497). CONCLUSION: Periostin serum levels were significantly reduced in patients with spontaneous pregnancy loss. Periostin can be used as a predictive marker for the success of endometrial implantation.

Can complete blood count inflammatory parameters in epithelial ovarian cancer contribute to prognosis? - a survival analysis.

SUBJECTIVE: The aim of the present study was to investigate the prognostic significance of preoperative complete blood count inflammatory markers in women operated for invasive Epithelial Ovarian Cancer (EOC). METHOD: Two hundred forty four patients that underwent operation with the diagnosis of invasive EOC between 2006 and 2014 were included in the study. The date of operation, date of recurrence and final mortality evaluations were performed for survival analysis. The sensitivity, specificity, PPV and NPV were separately calculated with ROC analysis. Survival analysis was carried out with Kaplan Meier-Log Rank Method. RESULTS: Five-years overall survival rate was 56, 9% and 5-year disease-free survival (DFS) rate was 45,5%. Advanced disease stage, moderate-poor tumor differentiation, and the presence of recurrence were determined to have significant inverse relation at mean survival and 5-year survival rates. Neutrophil/lymphocyte ratio (NLR) and Platelet lymphocyte ratio (PLR) had prognostic effect on both DFS and overall survival based upon the cut-off values determined in the study (PLR = 231, s36, NLR = 3,83). Histopathological subtypes were not found to have any prognostic value. In correlation analysis, PLR and NLR had positive correlation with each other and negative correlation with overall survival. CONCLUSIONS: Inflammatory markers such as NLR and PLR have independent prognostic value for women who undergo surgery for invasive EOC.

Pregnancy outcomes after transvaginal sacrospinous hysteropexy.

AIM: To evaluate the pregnancy outcomes in women who underwent transvaginal sacrospinous hysteropexy with the review of the literature STUDY DESIGN: 54 women who underwent transvaginal sacrospinous hysteropexy due to ≥grade 2 uterine prolapse during six-year period were identified from a computer based database. 8 of these who had pregnancy resulted in live birth subsequent to transvaginal sacrospinous hysteropexy were enrolled in this study. They were examined in case of pelvic organ prolapse recurrence and were questioned about their current self satisfaction status and PISQ-12 questionnaire. RESULTS: The median age of women was 36 years (range 29-43 years). All of the women were multiparous and there were no women with a previous cesarean section. All of the subsequent conceptions following operation occured spontaneously. The median time between hysteropexy and conception was 16 months (range 10-30 months). The pregnancies continued at least 37 weeks with only one preterm delivery (due to twin pregnancy). All 8 pregnancies were delivered by cesarean section. The median follow-up period after cesarean section was 45 months (range 7-60 months). Majority of women (7/8, 87.5%) were satisfied with current outcomes of sacrospinous hysteropexy and PISQ12 questionnaire scores revealed improvement in 87.5% (7/8) of women. CONCLUSION: Transvaginal sacrospinous hysteropexy is an appropriate surgical treatment method for symptomatic uterovaginal descensus in women who wish to preserve their uterine and future childbearing. And cesarean section is a reliable and satisfactory delivery route for women who underwent transvaginal sacrospinous hysteropexy.

The effect of preprocedure anxiety levels on postprocedure pain scores in women undergoing hysterosalpingography.

BACKGROUND: Hysterosalpingography (HSG) is an invasive, uncomfortable, and painful procedure. Patients often experience considerable anxiety and stress before the procedure. In this study, we aimed to evaluate the effect of preprocedure anxiety on postprocedure pain scores and clinical outcomes in women undergoing HSG. METHODS: This study was designed as a prospective randomized study. Women undergoing HSG were asked to complete the Beck Anxiety Inventory before the procedure. Patients were classified into two groups according to the anxiety score (Group 1: anxiety score ≤ 25; n = 84 and Group 2: anxiety score > 25, n = 25). All of the patients were asked to state the severity of their pain during the procedure using a visual analogue scale immediately after the procedure. Then, postprocedure pain scores and clinical features were evaluated. Data analyzed were: age, gravidity, parity, durations of marriage and infertility, body mass index, procedure time, amount of contrast media used, operator sex, history of surgery, educational level, and HSG results. RESULTS: A total of 109 women were enrolled into this prospective study. There was no statistically significant difference between the groups in terms of age, body mass index, durations of marriage and infertility, procedure time, amount of contrast media used, operator sex, history of surgery, educational level, and patency of the one and/or two fallopian tubes (p > 0.05). The median parity and pain scores after the procedure were lower in Group 1 (p < 0.05). There was also a positive correlation between anxiety scores and postprocedure pain scores (r = 0.289, p = 0.002). Receiver operator characteristics curve analysis demonstrated that operator sex was an important risk factor for postprocedure pain in patients with a preprocedure Beck Anxiety Inventory > 25. Logistic regression method demonstrated that higher parity, preprocedure anxiety score > 25, and male operator were risk factors for increased postprocedure visual analogue scale scores. CONCLUSION: According to this study, preprocedure anxiety levels have an effect on postoperative pain scores in women undergoing HSG procedure. Multiparity, male operator, and higher preprocedure anxiety scores also may have an effect on postoperative pain scores.