An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

BACKGROUND: Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). OBJECTIVE: The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. METHODS: The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. RESULTS: The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. CONCLUSIONS: Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.

Relationship between maternal c-reactive protein level and neonatal outcome in patients with preterm premature rupture of membranes treated with Ampicillin and Azithromycin.

This historical cohort study aimed to assess the relationship between antenatal maternal C-reactive protein (CRP) level and neonatal outcome preterm premature rupture of membranes (PPROM). We reviewed the records of 70 singleton pregnancies with PPROM between 24 and 34 weeks. Maternal CRP levels of neonates with respiratory distress syndrome, neonatal sepsis, grade 3-4 intraventricular haemorrhage and stage 2-3 necrotizing enterocolitis, perinatal mortality were compared with those without these complications. Administration of corticosteroid, tocolysis for two days and prophylactic antibiotics (intravenous ampicillin/sulbactam, and oral azithromycin) were the standard management protocol. The mean age at PPROM was 29 weeks 2 days (±3 weeks), the mean age at birth was 30 weeks 5 days (±20 days). CRP levels were not different between groups. Uni/multivariate analysis showed that maternal CRP levels were not related with neonatal outcomes. Neonatal complications in PPROM are related with the degree of prematurity and maternal WBC counts.

Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester.

OBJECTIVE: This prospective study was designed to compare ultrasound and autopsy findings on fetal urinary system malformations in second trimester terminations of pregnancy to evaluate the degree of agreement of such findings. METHODS: From January 2003 to October 2012, a total of 308 second trimester terminations of pregnancy were performed because of fetal malformation diagnosed through second trimester ultrasound examination at a tertiary referral center. RESULT: Among 308 second trimester fetuses with congenital anomalies, 62 (20.1%) had urinary anomalies. Ultrasound and fetal autopsy findings were in full agreement for urinary system malformations in 45 (72.6%) of 62 cases. In six (9.7%), autopsy confirmed the malformations detected by ultrasound but showed additional lesser urinary anomalies. In 10 (16.1%) cases, autopsy revealed major urinary anomalies not determined by ultrasound. In one case (1.6%), ultrasound reported bilateral renal agenesis; however, autopsy revealed a horseshoe kidney. The ultrasound screening sensitivity was 83.8%, and specificity was 99.5%. CONCLUSION: The results showed that prenatal ultrasound achieved a high accuracy in diagnosing fetal urinary malformations. However, fetal autopsy occasionally adds valuable information to prenatal ultrasound findings.

Sonographic findings and perinatal outcome of multiple pregnancies associating a complete hydatiform mole and a live fetus: a case series.

BACKGROUND: The aim of this case series was to present the ultrasonographic findings, clinical features, management, and outcome of multiple pregnancies with complete hydatidiform mole and coexisting fetus (CHMCF). METHODS: Sonographic features and obstetrical and perinatal outcomes of seven cases with CHMCF were analyzed retrospectively. RESULTS: A total of seven cases was included in the analysis. Six cases were twins and one case was quadruplet. The mean ± SD maternal age was 25.3 ± 1.9 years (median: 25; range: 23-29). The mean gestational age at diagnosis was 16.1 ± 4.6 weeks (median: 17; range: 11-23). Two pregnancies were achieved by ovulation induction. Two couples opted for pregnancy termination. Four pregnancies resulted in fetal loss between the 11th and 23th week of gestation. One pregnancy ended with the preterm delivery of a live-born neonate at 34 weeks due to pre-eclampsia. One patient developed persistent trophoblastic disease, which was treated by hysterectomy. The mean ± SD time for ß-human chorionic gonadotropin clearance was 3.7 ± 0.5 weeks (median: 4; range: 3-4) in the six patients without persistent trophoblastic disease. CONCLUSIONS: Spontaneous fetal loss is the most likely outcome for CHMCF. However, on the basis of our experience, we recommend carefully monitored continuation of pregnancy as long as maternal complications are not present or are controllable.

Oral tadalafil reduces intra-abdominal adhesion reformation in rats.

BACKGROUND: Currently, there is no ideal agent to prevent adhesion formation. We have shown that sildenafil, a phosphodiesterase-5 (PDE-5) inhibitor, reduces post-operative adhesion formation by vasodilatation and increases fibrinolytic activity. Here, we evaluated whether tadalafil, a long-acting PDE-5 inhibitor, decreases post-operative adhesion reformation in rats. MATERIALS AND METHODS: Standardized lesions were created in Wistar albino rats by cauterization of uterine horns and abrasion of adjacent peritonium. The extent and severity of adhesions were scored on the 14th post-operative day and adhesiolysis was performed at the second laparotomy. Animals were then assigned randomly into two groups. The study group (n = 11) received 10 mg/kg oral tadalafil by gavage 60 min before the second laparotomy and daily for 14 days afterwards. Controls (n = 11) received the same volume of tap water for 14 days by gavage. Animals were killed 15 days after adhesiolysis and adhesions were scored blind during the third laparotomy. RESULTS Basal adhesion scores at the time of the second laparotomy were comparable in the study and control groups. Scores for the extent of adhesion reformation in the study and control groups did not differ [median 1 (range 0-3) versus median 2 (range 1-3); P: 0.81] but tadalafil reduced the respective severity scores [median 0.5 (range 0-1) versus median 1 (range 0.5-1); P: 0.02] and total scores [median 2 (range 0-4) versus median 2.5 (range 1.5-4); P: 0.042]. CONCLUSIONS: Oral administration of tadalafil during the perioperative period reduces intra-abdominal adhesion reformation in rats.

First trimester diagnosis of sacrococcygeal teratoma using two- and three-dimensional ultrasound.

Sacrococcygeal teratomas are very rarely diagnosed in the first trimester. Here we report a case of a presacral mass suggestive of a sacrococcygeal teratoma that was detected during the first trimester nuchal translucency thickness measurement at 12+1 week of gestation. Although the diagnosis was possible with conventional two-dimensional sonography, three-dimensional sonography facilitated prenatal counseling by providing more recognizable images to the parents. Postmortem examination of the fetus confirmed the presence of a type 2 benign immature teratoma.

The effects of metformin and letrozole on endometriosis and comparison of the two treatment agents in a rat model.

BACKGROUND: Our aim was to investigate the effects of metformin and letrozole on experimentally induced endometriosis in a rat model. METHODS: Endometriotic implants were surgically formed, and 38 rats were randomly divided into four groups. Group 1 (control group, 8 rats) was given no medication. Group 2 (metformin group, 10 rats) was given 100 mg/kg/day of oral metformin. Group 3 (metformin group, 10 rats) was given 200 mg/kg/day of oral metformin. Group 4 (letrozole group, 10 rats) was given 0.1 mg/kg/day of oral letrozole. All rats continued to receive the treatment for 4 weeks and then were sacrificed to assess the size of implants and scores of adhesions. The histopathologic scores of implants in excised endometriotic foci were examined by a pathologist. RESULTS: The mean surface area of endometriotic implants was similar in all groups before the treatment. Although the area was not reduced in controls, it was found to be significantly reduced in all treatment groups (44.50 +/- 23.37, 5.90 +/- 2.37, 4.30 +/- 1.33, 6.90 +/- 3.72 mm(2), respectively; P < 0.05). The effect was comparable between the treatment groups. The histopathologic assessment revealed that the histopathologic score of implants was lowest after 100 mg/kg/day metformin. Additionally, metformin reduced the severity of adhesions. CONCLUSIONS: Metformin and letrozole caused a statistically significant regression of endometriotic implants. The effects of metformin on endometriotic tissue were at least comparable to letrozole.

Prenatal diagnosis of fetal hypothyroidism after maternal radioactive iodine exposure during pregnancy.

A 33-year-old woman with a history of surgically treated papillary thyroid carcinoma was inadvertently given radioactive iodine when she was 16 weeks pregnant. Sonographic examination revealed fetal thyroid hypoplasia, and cordocentesis confirmed fetal hypothyroidism at 22 weeks. The pregnancy was terminated at 24 weeks. We report the first case of fetal thyroid hypoplasia diagnosed by ultrasound and cordocentesis.

Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome.

Splenogonadal fusion limb defect syndrome (SGFLD) is a very rare abnormality. We report on a case with prenatal sonographic findings of a fetus with postnatally diagnosed SGFLD syndrome. This is also the second case of prenatal ultrasonographic diagnosis of gastrointestinal malrotation associated with SGFLD. A 26-year-old primigravid woman was referred to our clinic because of nonvisualization of both fetal femoral bones at 20 weeks of gestation. A detailed sonographic examination showed complete bilateral absence of lower limbs, micrognathia, single umbilical artery and a right-sided stomach. Autopsy confirmed prenatal sonographic findings and additionally showed that the spleen was abnormally connected to the left gonad by a fibrous band. In conclusion, although all limbs and both sides were equally affected in most of the reported cases, SGFLD syndrome should be considered in cases with terminal limb defects of lower limbs.

Surgical management of intra-abdominal mislocated intrauterine devices.

OBJECTIVE: We report on our experience in surgical treatment of patients with intra-abdominal intrauterine devices (IUDs). MATERIAL AND METHODS: A total of 10 patients were retrospectively analyzed. Diagnosis was based on gynecologic examination, transvaginal sonography, and abdominal X-ray. RESULTS: All of the IUDs were inserted by trained midwives, either in the puerperal period (n=3) or within 1 year after puerperium (n=7). Five women were asymptomatic at the time of diagnosis, three were pregnant and two complained of pelvic pain. Eight patients were managed by laparoscopy, whereas laparotomy was required in two. Abscess formation was present in two cases. The postoperative course was uneventful in all patients. CONCLUSION: A missing string during gynecologic examination is the first sign of an intra-abdominal IUD in all cases. Transvaginal sonography should be combined with abdominal X-ray to reach a definitive diagnosis. Laparoscopic treatment may be appropriate in most of the cases.

Sildenafil reduces postoperative adhesion formation in a rat uterine horn model.

OBJECTIVE: The purpose of this experimental study was to evaluate the effect of oral sildenafil on postoperative adhesion formation in rats. STUDY DESIGN: Thirty-two Wistar Albino rats were subjected to standardized lesion by cauterization of the uterine horn and abrasion of the adjacent parietal peritoneum. They were randomized to receive sildenafil at a daily dose of 15 mg/kg, 7.5mg/kg and 3.75 mg/kg or placebo. Sildenafil was administered by gavage 1h before the operation and daily for 5 days after the procedure. The extent and severity of adhesions were assessed on the 14th postoperative day. RESULT(S): The severity but not extent of adhesions in rats given 15 mg/kg sildenafil was significantly less when compared with the other groups (<0.001). CONCLUSION: Sildenafil diminishes peritoneal adhesion formation in rat.

Prenatal Diagnosis and Postnatal Outcome of Schizencephaly.

The aim of this study was to present our experience with 5 cases of fetal schizencephaly in terms of prenatal diagnostic features, and postnatal outcome. The database of prenatal diagnosis unit was searched for antenatally diagnosed cases with schizencephaly. Maternal characteristics, ultrasonography, prenatal-postnatal magnetic resonance imaging (MRI) findings, and postnatal outcome were noted. Of 5 cases, 2 had definitive prenatal diagnoses on ultrasound and 3 cases were diagnosed by fetal MRI. All cases had cerebral cortical migration anomalies including polymicrogyria, subependymal heterotopia, and lissencephaly, and 2 cases had additional extracranial malformations. Three cases showed regression of the cerebral clefts on follow-up postnatal MRIs. Three cases had moderate to severe psychomotor retardation, and 1 case needed repeated ventriculoperitoneal shunt operation due to hydrocephaly. Prenatal diagnosis of schizencephaly with ultrasonography is not straightforward and required further evaluation with fetal MRI. Additional cerebral anomalies worsen the prognosis of schizencephaly.

Correlation of elevated leptin levels in amniotic fluid and maternal serum in neural tube defects.

OBJECTIVE: To measure maternal serum and amniotic fluid leptin concentrations in pregnant women diagnosed antenatally as having fetuses with a neural tube defect in the second trimester. METHODS: Twenty pregnant women who had fetuses with a neural tube defect detected on ultrasonography (neural tube defect group) in the second trimester and 20 women who had abnormal triple screens indicating an increased risk for Down syndrome but had healthy fetuses (control group) were enrolled in the study. Amniotic fluid was obtained by amniocentesis, and maternal serum samples were taken simultaneously. RESULTS: The mean leptin levels in amniotic fluid (P <.001) and maternal serum (P <.05) of patients who had fetuses with a neural tube defect were found to be significantly higher than control group levels. The mean leptin levels in maternal serum of both groups were also higher than leptin levels in amniotic fluid (P <.05 for the neural tube defect group and P <.001 for the control group). Although there were significant correlations between maternal weight, weight gain, body mass index at the time of amniocentesis, and maternal serum leptin concentrations in both groups, a significant correlation between leptin concentrations in maternal serum and amniotic fluid was found only in the neural tube defect group (P <.05). CONCLUSIONS: We found significantly higher leptin levels in both amniotic fluid and maternal serum of patients who had fetuses with a neural tube defect. We suggest that the main source of leptin in amniotic fluid of pregnant women who had fetuses with a neural tube defect is the leakage into amniotic fluid from cerebrospinal fluid. The increase of maternal serum leptin concentrations has been attributed to the transportation of amniotic fluid leptin to the maternal circulation.

Differential diagnosis of intra-uterine device migrating to bladder using radiographic image of calculus formation and review of literature.

A 28-year-old woman in whom a copper-T 280-A intra-uterine device (IUD) had been placed 6 months previously, presented complaining of urinary system infection and lower abdominal pain. Intra-vesical migration of IUD was confirmed by radiography and cystoscopy. Since 1966, 17 other cases of calculus formation among 41 cases of intra-vesical migration have been reported.

Effects of hypertension and obesity on endometrial thickness.

OBJECTIVE: The aim of this study was to evaluate the effects of hypertension and obesity on endometrial thickness. STUDY DESIGN: Forty obese women with hypertension (Group 1), 28 non-obese women with hypertension (Group 2), 58 obese women (Group 3), 56 non-obese healthy women (Group 4), totally 182 postmenopausal women were included in this prospective study. All patients were examined, and Papanicolaou cervical smear was performed after interview. Endometrial thickness was measured in the anterior-posterior diameter by vaginal ultrasonography. The data were analysed with one-way analyses of variance (ANOVA), Scheffe and chi2 tests. P<0.05 was accepted as statistically significant. RESULTS: Endometrial thickness in obese women with or without hypertension were significantly greater than in non-obese women with or without hypertension (P<0.05). There was no statistical difference between non-obese hypertensive women and control group regarding endometrial thickness measurement (P>0.05). CONCLUSION: Obesity has been found to increase endometrial thickness independently. Hypertension may increase the endometrial thickness if it is combined with obesity.

Predictive value of tumor necrosis factor alpha (TNF-alpha) in preeclampsia.

OBJECTIVE: To assess the measurement of plasma tumor necrosis factor alpha (TNF-alpha) as a predictive test for the development of preeclampsia. STUDY DESIGN: One-hundred and twenty pregnant women were included in this prospective longitudinal study. Maternal plasma TNF-alpha levels were measured in the first, second and third trimesters by immunosorbent assay (ELISA). Preeclamptic patients were determined prospectively. Preeclamptic and normotensive patients were compared to assess the predictive value of TNF-alpha in preeclampsia. RESULTS: Ninety patients completed the study. Preeclampsia developed in 10 out of 90 patients (11.1%). Plasma TNF-alpha levels were higher in preeclamptic patients than normotensive women in the third trimester of pregnancy (P<0.05). No difference was found between groups in the first and second trimesters (P>0.05). With the use of the receiver operating characteristics (ROC) 10.13 pg/ml was found to be a cut-off value predictive for the development of preeclampsia in the third trimester, but cut-off values in the first and second trimesters could not be found. The specificity, sensitivity, positive and negative predictive values were 90, 78, 33 and 98%, respectively. CONCLUSION: This study shows that plasma TNF-alpha levels are not useful as a specific marker for prediction of preeclampsia in the first and second trimesters. But determination of TNF-alpha may be useful for the prediction in the early third trimester.

Idiopathic calcinosis cutis of the vulva in an elderly woman. A case report.

BACKGROUND: Idiopathic calcinosis cutis of the vulva is a rare condition of unknown etiology. Only seven cases have been reported to date, and all of them were in children. We report the first case in an elderly woman. CASE: A 68-year-old woman presented with a labial lesion of unknown etiology. Excisional biopsy was performed, and histopathologic evaluation showed subepidermal calcification. Follow-up biochemical and hormonal analysis and screening tests for collagen vascular diseases revealed normal results. CONCLUSION: After diagnosis of calcinosis cutis, a laboratory workup to rule out abnormalities of calcium and phosphorus metabolism, malignant processes and collagen vascular diseases must be carried out. This approach in the evaluation of calcinosis cutis could lead to diagnosis of the underlying disease at an early stage.

Prenatal diagnosis of a fetus with partial trisomy 7p.

We report a prenatal diagnosis of a fetus with partial trisomy 7p. Ultrasonography at 28 weeks of gestation of a 27-year-old multigravid woman revealed a growth-retarded fetus with agenesis of the corpus callosum, enlarged left kidney, single umbilical artery, hypertelorism, depressed nasal bridge, frontal bossing, irregular maxiller alveolar composition, club feet, flexion deformity of the upper extremities and Epstein anomaly. Fetal karyotype was 46,XX,der(9)add(9p24),16qh+. Our results indicated that the fetus had an unbalanced translocation, which resulted in duplication of the proximal segment of 7p. Maternal karyotype was (46,XX,t(7,9)(p15.3,p24),16qh+). Because fetal death occurred at 31 weeks of gestation, induction of labor was performed. An enlarged anterior fontanel and micrognathia were seen during fetal autopsy. Trisomy 7p is related to a well-known clinical picture with a dismal prognosis. Our report showed that the outcome of the affected pregnancy may also be poor. Detection of fetal chromosomal abnormality and parental translocations are essential for counseling of the parents.

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter).

OBJECTIVE: Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. METHODS: A 33-year-old, G5, P2 woman with a singleton pregnancy was referred to our clinic at 24 weeks of gestation for further evaluation of a fetal sacral exophytic mass. Detailed fetal sonographic examination together with chromosomal analysis by amniocentesis was performed. RESULTS: The scan revealed a large SCT together with a persistent right umbilical vein, cardiomegaly, bilateral mild hydronephrosis and intrauterine growth retardation. The fetal karyotype showed distal 10q trisomy (10q24.3-->qter) distal monosomy 17 (p13-->pter). The fetus died after a preterm delivery at 28 weeks of gestation. Postnatal examination confirmed the prenatal findings and added the typical facial features of this syndrome, which consisted of prominent forehead, small nose with depressed nasal bridge, micrognathia and bow-shaped mouth. CONCLUSION: This case provides further evidence of a possible association between chromosomal aberrations in SCTs.

Correlation between prenatal ultrasound and fetal autopsy findings in fetal anomalies terminated in the second trimester.

OBJECTIVE: The aim of the study was to compare the consistency of major/minor fetal anomalies detected by second trimester prenatal ultrasound examination with the findings in fetal autopsies following the termination of pregnancy (TOP) in the second trimester. DESIGN: In a 4-year long prospective study, 107 second-trimester TOP was performed due to fetal malformation diagnosed by second trimester-ultrasound examination at a tertiary referral center. Ultrasound findings were compared with fetal autopsy findings. RESULT: Of the 107 cases with major fetal anomalies diagnosed by prenatal ultrasound, 49% had central nervous system anomalies, 23% had kidney and urinary tract anomalies, 11% had congenital heart disease. All of these major anomalies leading to TOP were confirmed by fetal autopsy (100% success rate in major anomalies). Overall success rate in prenatal ultrasound for major and minor anomalies was 77%. The percentage of additional minor anomalies detected in fetal autopsies was 20%. Three percent of the minor anomalies detected by prenatal ultrasonography could not be confirmed during autopsy. Chromosomal anomalies were detected in 9 (16%) out of 57 cases. CONCLUSION: Evaluation of fetal autopsies following TOP enables diagnosis of pathologies undetected by prenatal ultrasound alone, leading to better preconceptional counseling for subsequent pregnancies.