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.

Evaluation of endocervical canal in women with minimal cervical cytological abnormalities.

OBJECTIVE: This study aimed to examine the endocervical canal curettage (ECC) results of patients with atypical squamous cells of undetermined significance (ASC-US) or low-grade intraepithelial lesion (LSIL) and secondarily to explore the features of patients who are at greatest risk for endocervical involvement. MATERIALS AND METHODS: This is a retrospective analysis of 846 women who underwent ECC with ASC-US or LSIL on cervical cytology between January 2003 and April 2011. Records of demographic data and colposcopic impression were evaluated. Histopathological results of biopsies and ECC were classified into 2 categories as less than cervical intraepithelial lesion 2 (CIN 2) and CIN 2+ lesions for comparison. Multivariate analysis was performed using binary logistic regression analysis to identify predictors of ECC results. RESULTS: CIN 1 lesions were detected in 8.9% of patients, and the rates of CIN 2 or 3 and invasive/microinvasive cancers in ECC were 3.8% and 0.7%, respectively. Cervical intraepithelial lesion 2 or worse lesions were detected in 1.6% (7/419) of the patients with normal colposcopic findings. There was no statistically significant difference in the rate of CIN 2+ lesion in endocervical canal between the patients with or without satisfactory colposcopic examination (4.4% vs 4.1% p = .69). A total of 1.7% of the patients who did not have cervical biopsy and also 1.1% of the patients who had less than CIN 2 biopsy results were diagnosed with CIN 2+ lesion by ECC despite the satisfactory colposcopy. Only a positive biopsy result for dysplasia was found to be an independent factor for the detection of a dysplastic lesion in endocervical canal (odds ratio = 0.06; 95% CI = 0.01-0.35; p = .02). CONCLUSIONS: Endocervical canal curettage had minimal diagnostic utility for the detection of CIN 2 or worse lesions in women with ASC-US or LSIL smear result and normal colposcopic findings. In addition to this, the presence or absence of CIN 2+ lesions diagnosed by means of endocervical curettage was independent of a satisfactory or unsatisfactory colposcopic examination.

Combined use of preoperative transvaginal ultrasonography and intraoperative gross examination in the assessment of myometrial invasion in endometrial carcinoma.

OBJECTIVE: To evaluate the diagnostic performance of gross examination and transvaginal ultrasonography in the assessment of the depth of myometrial infiltration when they are used alone or together as a combined test. STUDY DESIGN: The data of 219 consecutive patients with a diagnosis of endometrial cancer were evaluated retrospectively. Transvaginal ultrasound was carried out as a part of the routine preoperative work-up within three days of surgical intervention in all cases. All patients underwent hysterectomy with bilateral salpingo-oophorectomy and routine surgical staging and all uterine specimens were examined immediately after hysterectomy. The depth of myometrial invasion was classified into two groups: no or <50% invasion and ≥50% invasion. The findings of ultrasound and intraoperative gross examination were compared with the final histopathological results. The data of these two methods were integrated to evaluate the diagnostic performance of the combined test. If the results of myometrial invasion evaluation were different for the same patient, the deeper one (the depth of invasion ≥50%) was accepted. RESULTS: Sensitivity, specificity, PPV, NPV and accuracy of preoperative ultrasonography in predicting myometrial infiltration ≥50% were 62%, 81%, 60%, 82%, and 75% respectively. The corresponding rates for intraoperative gross examination were 61%, 88%, 70%, 83% and 79%, respectively. For the combined test they were 78%, 76%, 60%, 88% and 70% respectively. There was no statistically significant difference in sensitivity and specificity between ultrasound and gross examination. The sensitivity of the combined test was significantly higher than that of ultrasound and gross examination (p=0.001 and p<0.0001, respectively). The specificity of the combined test was significantly lower than that of TVS and gross examination (p=0.008 and p<0.0001, respectively). CONCLUSION: Combining ultrasonography and intraoperative gross examination may be a good option to assess the depth of myometrial invasion, as it has a higher sensitivity and negative predictive value in comparison to using these methods alone.

Coexisting ovarian malignancy in patients with clinical stage I endometrial carcinoma.

AIM: To evaluate the feasibility of ovarian preservation at the time of operation in patients with clinical stage I endometrial carcinoma. MATERIALS AND METHODS: The data of 499 consecutive patients with clinical stage 1 endometrial cancer operated between January 2001 and December 2011 were retrospectively reviewed. Clinical and pathologic information and the intraoperative inspection findings of ovaries were evaluated to find the factors associated with the coexisting ovarian malignancy. RESULTS: The mean age of patients was 56.8 ± 9.8 years. Coexisting ovarian tumors were detected in 38 patients (7.6 %), and 28 (5.6 %) of them were malignant (12 metastatic and 16 synchronous primaries). Most of the patients were postmenopausal (n = 371, 74.3 %) and 60 (12 %) of the patients were at the age of 45 years or less. Coexisting malignancy was detected in 9 % (n = 11) of the premenopausal patients and in 5 % (n = 3) of the patients aged 45 years or less. Multivariate analysis revealed that serosal invasion, tubal involvement, and positive abdominal cytology were independent risk factors for coexisting ovarian malignancy. The sensitivity, specificity, positive predictive value and negative predictive value of the intraoperative examination for the diagnosis of benign/normal ovary was 99.6, 78.8, 98.5 and 92.9 %, respectively. CONCLUSION: The incidence of coexisting ovarian malignancy in clinical stage I endometrial carcinoma is low. Although occult metastasis cannot be excluded at all, careful intraoperative inspection of ovaries seems valuable for the prediction of co-existing ovarian malignancy.

Immediate colposcopic evaluation in postmenopausal women with low-grade squamous intraepithelial lesion cytology.

OBJECTIVE: To compare the final diagnosis among pre- and postmenopausal women with low-grade squamous intraepithelial lesion (LGSIL) cervical smear results. DESIGN: Retrospective, comparative study. SETTING: Departments of obstetrics and gynecology in two teaching and research hospitals. POPULATION: Data were evaluated on 712 women with LGSIL between April 2005 and April 2011. METHODS: Results from 129 postmenopausal women with LGSIL were compared with 583 premenopausal women with a similar LGSIL result with respect to sociodemographic data and histopathology. MAIN OUTCOME MEASURES: Final clinicopathological diagnosis. RESULTS: The mean age of the pre- and postmenopausal women was 37.2 and 52.5 years, respectively, and lesions of cervical intraepithelial neoplasia grade 2 or worse were detected by biopsy and/or endocervical curettage in 13.6 and 9.3%, respectively. There was no significant difference between the final diagnosis among pre- and postmenopausal women with LGSIL cytology (relative risk 1.43; 95% confidence interval 0.82-2.48; p= 0.19). Invasive cervical cancer was detected in three premenopausal (0.5%) and two postmenopausal women (1.6%). CONCLUSIONS: Cervical pre-invasive and invasive disease rates were similar in pre- and postmenopausal women with LGSIL cytology. For this reason, LGSIL in postmenopausal women should be considered more seriously, and colposcopic evaluation may be as acceptable an option in the management of LGSIL in this group of patients as it is with premenopausal women.

The role of pregnancy awareness on female sexual function in early gestation.

INTRODUCTION: Female sexual function is negatively influenced by pregnancy due to the physical and emotional changes. Although the most significant effect is seen in the third trimester of pregnancy, a considerable decrease in the frequency of intercourse and sexual desire in the first trimester has also been shown. AIM: To investigate the factors that affect sexuality in early pregnancy and the impact of awareness of pregnancy on female sexual function in the first trimester of pregnancy using two self-reported questionnaires. METHODS: In this cross-sectional study, 130 healthy, married pregnant women who were admitted to the gynecology clinic between the 4th and 10th week of gestation were asked to complete a self-administered questionnaire and the female sexual function index (FSFI). MAIN OUTCOME MEASURES: The factors associated with FSFI score and monthly sexual activity frequency in the first trimester, as well as the differences in sexual activity frequency and FSFI scores between the women who were previously aware of their pregnancy and those who were yet unaware of their pregnancy. RESULTS: Women who were unaware of their pregnancy had significantly higher coitus frequency in comparison with the aware group (P = 0.002). Total FSFI score was 21.99 ± 8.13 in the aware group and 24.66 ± 3.76 in the unaware group (P = 0.02). None of the obstetric and sociodemographic variables had an influence on desire and pain scores. Arousal, lubrication, and satisfaction scores were adversely affected by awareness of pregnancy. Orgasm scores were influenced negatively by awareness and positively by love marriage; however, in multivariate linear regression analysis none of these were defined as independent factor for orgasm scores. Overall FSFI scores and monthly frequency of sexual activity were only affected by awareness. CONCLUSION: The results of this study suggest that in early gestation, awareness of pregnancy is associated with lower female sexual function. Furthermore, obstetric and sociodemographic factors seem to be ineffective on sexual function in early pregnancy.

Treatment of twin reversed arterial perfusion sequence with alcohol ablation or bipolar cord coagulation.

OBJECTIVE: To evaluate perinatal outcome in pregnancies complicated by TRAP sequence. METHODS: The perinatal outcomes of 15 TRAP sequence pregnancies referred to Kanuni Sultan Suleyman Research and Teaching Hospital, Turkey, were evaluated. Six cases were treated conservatively. Alcohol ablation and bipolar coagulation were performed in 5 and 4 cases, respectively. RESULTS: In 12 cases, there were signs of fetal compromise and acardiac/pump twin abdominal circumference ratio of more than 50%. In 3 cases without intervention, the ratio was less than 50%. Three of the 6 pregnancies treated conservatively resulted in intrauterine death of the pump twin. Alcohol ablation was successful in 3 cases, with delivery of live fetuses at 36-38 weeks, whereas intrauterine death occurred in 1 case and abortion occurred in 1 case. In 2 of the cases involving bipolar cord coagulation, live birth occurred at 39 weeks; preterm premature rupture of membranes and abortion occurred at 18 weeks in 1 case, and pregnancy was terminated in 1 case because of ventriculomegaly. CONCLUSION: Conservative therapy is suitable for mild cases of TRAP sequence in which the pump twin dominates. If there are signs of pump twin compromise, alcohol ablation and bipolar cord coagulation can be performed successfully.

Prenatal diagnosis of abnormal course of umbilical vein and ductus venosus agenesis: report of three cases.

Ductus venosus connecting the portal and embryonic venous circulation into the inferior vena cava has a crucial role in fetal circulation. The absence of ductus venosus is a rare anomaly, in which the umbilical vein connection to the venous system may be extrahepatic, bypassing the liver or intrahepatic via the portal venous system. We report three cases of ductus venosus agenesis with associated anomalies. In two of them the connection was directly to the right atrium, whereas the umbilical vein drained to the left internal iliac artery in the third case.

The novel criteria for predicting pelvic lymph node metastasis in endometrioid adenocarcinoma of endometrium.

OBJECTIVE: To identify clinicopathological risk factors for pelvic lymph node metastasis, and to evaluate the clinical validity of these factors in selecting patients who need pelvic lymph node dissection. METHODS: The data of 466 patients who had lymphadenectomy for endometrioid adenocarcinoma of the endometrium between January 2002 and December 2010 were reviewed retrospectively. RESULTS: All patients underwent pelvic lymphadenectomy and 192 (41.2%) patients also underwent paraaortic lymphadenectomy. The median number of pelvic lymph node was 16 (range: 2-46) and of paraaortic lymph node was 5 (range: 2-16). 10.1% (47/466) of all patients had pelvic lymph node involvement and 7.8% (15/192) of the patients had paraaortic lymph node involvement (LNI). Pelvic LNI was significantly more common in the presence of higher grades of tumor, LVSI, deep myometrial invasion, positive peritoneal cytology and cervical involvement. The logistic regression analysis revealed that LVSI, cervical glandular invasion and cervical stromal invasion remained to be the independent risk factors for LNI. When the LVSI and/or cervical involvement were considered as high risk for pelvic lymph node metastasis, NPV and specificity were found to be 96.3% and 68.4%, respectively. LNI was correctly estimated in 323 women (69%), overestimated in 132 women (28%) and underestimated in 11 women (2%). CONCLUSION: LVSI, cervical glandular and stromal involvement were independent risk factors for pelvic LNI. These variables can be assessed pre- or intraoperatively with a high rate of accuracy, the model which uses these variables may be successfully used in the prediction of pelvic lymph node metastasis.

Prenatal diagnosis of aortopulmonary window.

Aortopulmonary window (APW) is a rare congenital heart malformation. It refers to a connection between the ascending aorta and the pulmonary trunk before bifurcation. We report a case of APW that was detected by prenatal fetal echocardiography. The diagnosis was confirmed postnatally with an additional partial anomalous pulmonary venous connection. Corrective surgery was performed at the age of 1 week. Prenatal diagnosis of APW is important because an operation early after birth is required to prevent congestive heart failure due to high pulmonary blood flow. It is essential to visualize the aortopulmonary septum during fetal echocardiographic examination.

Associated anomalies and outcome of fetal aberrant right subclavian artery.

PURPOSE: To determine the frequency of aberrant right subclavian artery among the low-risk fetuses and to evaluate its association with chromosomal abnormalities and the other congenital heart diseases. METHODS: A total of 4,125 consecutive fetuses were examined for the presence of aberrant right subclavian artery that arises from the descending aorta distal to the left subclavian artery. RESULTS: Aberrant right subclavian artery was detected in 17 cases (0.4%). In nine cases it was an isolated finding. In four cases (23.5%) it was accompanied by another cardiac defect. Extracardiac malformations were present in three fetuses (17.6%). Among the 13 cases of aberrant right subclavian artery in which the karyotypes were known, one case presented with Down syndrome (7.6%). In this fetus, aberrant right subclavian artery was the only finding. CONCLUSION: These findings suggest that aberrant right subclavian may be an isolated finding in trisomy 21. The visualization of subclavian artery should be a part of fetal echocardiographic examination as it may be a valuable marker for Down syndrome.

Effects of steroid hormone levels on the ultrasound appearance of the preovulatory endometrium in controlled ovarian hyperstimulation cycles.

BACKGROUND: This study investigated the effects of serum estradiol (E2) and progesterone levels on preovulatory endometrial thickness and echogenicity in controlled ovarian hyperstimulation (COH) cycles for in vitro fertilization (IVF). MATERIALS AND METHODS: In this retrospective study, we evaluated the data of 241 in vitro fertilization- embryo transfer cycles. Cycles were classified into three groups according to endometrial thickness measured on the day of human chorionic gonadotropin (hCG) administration as: i. ≤8 mm, ii. 8-14 mm, and iii. ≥14 mm. Echogenic patterns were described as trilaminar, isoechogenic, and hyperechogenic. Serum E2 and progesterone levels were evaluated on the day of hCG administration. Data were analyzed using X2test, Student's t test and analysis of variance (ANOVA). RESULTS: Serum E2 levels increased in parallel with endometrial thickness, although differences among the three groups were insignificant. There was no correlation between serum progesterone levels and endometrial thickness. There was no significant difference in the steroid hormone concentrations between the echogenic patterns. CONCLUSION: Serum steroid hormone levels on the day of hCG administration do not affect the ultrasound appearance of the endometrium in COH cycles.

Trends in fetal indications for termination of pregnancy between 2002 and 2010 at a tertiary referral centre.

OBJECTIVE: We reviewed the data of the termination of pregnancy (TOP) cases between 2002 and 2010 to evaluate the changes in fetal indications for both early and late TOPs in this period. MATERIAL AND METHODS: The data of 962 TOP cases were analysed in two groups according to the periods as in 2002-2006 and 2007-2010. The women were also subdivided into two categories according to their gestational age; <23 weeks' gestation (early termination) and ≥23 weeks' gestation (late termination). RESULTS: Four hundred and fifty-eight (47.6%) of TOPs were performed between 2002 and 2006 (Group 1) and 504 (52.3%) were performed between 2007 and 2010 (Group 2). The number of early (<23 weeks) and late (≥23 weeks) terminations were 583 (60.6%) and 379 (39.3%), respectively. The vast majority of anomalies were central nervous sytem malformations (51.8%). They were followed by multiple anomalies (10.2%) and chromosomal anomalies (9.4%). Chromosomal and cardiovascular system anomalies were significantly higher in 2007-2010 in comparison to 2002-2006 (p<0.0001 and p=0.002, respectively). There was no statistically significant difference between the fetal indications that led to early termination compared to those that led to late termination. CONCLUSION: The distribution of indications for TOP was influenced by the development in prenatal screening policy, resulting in a significant increase in terminations due to chromosomal and cardiovascular system anomalies. Cultural, educational, religious and legal factors cause differences in the indications for TOP as well as the gestational age that TOPS are performed.

Comparison of preoperative endometrial biopsy grade and final pathologic diagnosis in patients with endometrioid endometrial cancer.

OBJECTIVE: To compare preoperative grading in endometrioid endometrial cancer with the final pathologic assessment of the hysterectomy specimen. The second objective of the study was to determine a high risk group who will be upgraded in the postoperative evaluation. MATERIAL AND METHODS: A total of 335 patients with endometrioid endometrial cancer were retrospectively reviewed between June 2000 and January 2011. All pathology results were pre- and postoperatively reviewed at two institutions, and all patients underwent surgical therapy. Sensitivity, specificity, positive and negative predictive values and accuracy rates were calculated for all grades in the preoperative assessment. RESULTS: The mean age of the patients was 56.2±9.6 and the vast majority of the patients were postmenopausal (n=239, 71.3%). FIGO grade was determined to be greater in 75 patients in the final hysterectomy specimen. Fifty-five (32.9%) of the patients with preoperative grade 1 were found to be grade 2 and 3.6% of them were upgraded to grade 3. Fourteen of the patients with grade 2 (11.4%) were found to be grade 3. The accuracy rates of the preoperative grade assessment with endometrial sampling were 75.5%, 66.2% and 88.3% for grades 1, 2 and 3, respectively. There were no statistically significant differences in the preoperative demographic characteristics between patients with or without upgraded tumors. CONCLUSION: A high percentage of preoperatively diagnosed grade 1 tumors were upgraded in the postoperative evaluation. The patients who would have been upgraded after hysterectomy could not have been predicted preoperatively using the characteristic features.

Atypical squamous cells of undetermined significance in postmenopausal women: a comparative retrospective analysis.

OBJECTIVES: To determine the outcomes of women with a diagnosis of atypical squamous cells of undetermined significance (ASCUS) with respect to menopausal status. STUDY DESIGN: Between October 2006 and March 2010, the data of 214 postmenopausal women with ASCUS results on Pap smear were evaluated. Sociodemographic data and histopathological results were compared with those of 1018 premenopausal women with ASCUS cytology. RESULTS: At the final diagnosis, most histological findings were normal in pre- and postmenopausal women with ASCUS cytology (70% and 70.1%, respectively). In the premenopausal group, 23.1% of the women had cervical intra-epithelial neoplasia (CIN) 1 lesions and 6.7% had CIN 2/3 lesions. Similarly, CIN 1 and CIN 2/3 lesions were detected in 23.4% and 6.1% of postmenopausal women, respectively. No significant difference in the final diagnosis was found between the two groups (p=0.88). Two premenopausal women (0.2%) and one postmenopausal woman (0.5%) had micro-invasive cervical carcinoma. There were no cases of invasive carcinoma in either group. CONCLUSIONS: According to this study, the rates of pre-invasive and micro-invasive cervical carcinoma were similar in pre- and postmenopausal women with ASCUS cytology.

Preoperative assessment of myometrial and cervical invasion in endometrial carcinoma by transvaginal ultrasound.

OBJECTIVE: To evaluate the diagnostic accuracy of transvaginal ultrasound (TVS) in preoperative assessment of the depth of myometrial infiltration and the presence of cervical invasion in endometrial carcinoma. METHODS: 298 consecutive patients with a diagnosis of endometrial cancer were evaluated by TVS within 3 days of surgical intervention. The depth of myometrial invasion was classified into two groups: no or <50% invasion and ≥50% invasion. Invasion of cervix was diagnosed when the neoplastic tissue distended the cervix and showed ill-defined borders with the cervical stroma. RESULTS: The sensitivity, specifity, positive predictive value (PPV), negative predictive value (NPV) and overall diagnostic accuracy of TVS in evaluation of the depth of myometrial infiltration were 68.4%, 82%, 65.1%, 84.1% and 77.5%, respectively. While the sensitivity and PPV were significantly higher among grade 3 tumors, the specifity, NPV and accuracy were significantly higher among grade 1 tumors. The sensitivity, specifity, PPV, NPV, and overall diagnostic accuracy of TVS in assessment of the presence or absence of neoplastic tissue in cervix were 76.5%, 99.3%, 86.7%, 98.2% and 98%, respectively. While the sensitivity and PPV were significantly higher among grade 1 tumors, the NPV and accuracy were significantly lower among grade 3 tumors. CONCLUSION: TVS can be considered as a feasible, economical and simple imaging modality with a high diagnostic accuracy for the prediction of cervical involvement. However, it is not a reliable method in estimating the depth of myometrial infiltration.