Fetal intra-abdominal tumors: assessment of spectrum, accuracy of prenatal diagnosis, perinatal outcome and therapy at a tertiary referral center.

OBJECTIVE: To describe the varieties and ultrasound characteristics of prenatally diagnosed fetal abdominal tumors and to scrutinize the accuracy of prenatal diagnosis as well as the postnatal outcome and therapy of affected pregnancies. STUDY DESIGN: Retrospective study of 354 fetuses found to have abdominal tumors on prenatal sonogram, identified from 1993 to 2009 at a tertiary referral center for prenatal medicine. The cohort was classified into subgroups according to the sonographic appearance of the fetal tumor and the affected anatomic structure (urinary, gastrointestinal and genital tracts and other locations). Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin were calculated. Relationships between relevant outcome domains and the different subgroups were assessed using the chi-square test and Fisher's exact test. RESULTS: Our cohort comprised 222 urinary tract lesions, 37 genital tract lesions, 80 gastrointestinal lesions and 15 tumors of other origins. The mean gestational age at diagnosis was 26+0 wks. The prenatally established diagnosis was exactly concordant with postnatal findings in 88.9%. Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin (urinary, gastrointestinal, genital tracts and other locations) were 98.3%, 97.6%, 92.6% and 2.4%, respectively. The favorable postnatal outcome rate was highest among fetuses with genital tract lesions (95%) and lowest among those with tumors of the urinary tract (62%, p=<0.001). Twenty per cent of tumors regressed spontaneously, mostly gastrointestinal tumors (36%, p=<0.001). In 75/354 cases (21%) the parents opted to terminate the pregnancy: intra-uterine fetal demise and neonatal death were each noted in 4%. Prenatal therapy was performed in 24 of 354 cases (7%) and postnatal surgery in 64 cases (18%). CONCLUSION: The majority of fetal abdominal anomalies were accurately diagnosed and the vast majority of affected fetuses had a favorable outcome, some tumors even resolved with advancing pregnancy. Pre- and post-natal invasive surgical interventions were mandatory in only a small number of cases.

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation.

Emerging gonadotropin-releasing hormone agonists.

INTRODUCTION: Gonadotropin-releasing hormone agonist analogs (GnRHa) are peptides that mimic the action of gonadotropin-releasing hormone (GnRH) and are used to suppress subsequent sex steroid production. Although the analogs are a rather defined group of drugs, there have been developments in the past decades and there is still ample room for improvement. New therapeutic strategies in the use of GnRHs are discussed. AREAS COVERED: Major points of discussion include: i) the use of concomitant treatment of early breast cancer in premenopausal estrogen-positive and -negative patients, ii) the use of GnRHa for fertility preservation in young female patients with malignant diseases and iii) the use of GnRH analogs in assisted reproduction. The manuscript provides a better understanding of GnRH agonists as well as an explanation of their major indications, biochemical pathways and concluding therapeutic strategies. Recent results from international meetings and debates are described to explain current controversies. EXPERT OPINION: This paper highlights the need for more complex GnRH analogs. In the next few years, there will be longer acting GnRHas that may improve adherence. New therapeutic targets in oncological concepts may go beyond fertility preservation and focus on the antiproliferative effects of GnRH analogs.

Obesity decreases the chance to deliver spontaneously.

PURPOSE: To evaluate the impact of maternal obesity on labour, intrapartual assessment and delivery. METHODS: Retrospective cohort analysis of n = 11,681 deliveries supervised between 01 January 2000 and 31 December 2009. Results were analysed dividing the patients into two main groups according to their body mass index (BMI): group 1, control: BMI 18-24.9 and group 2 BMI, test >25. Subgroups were built: (0) BMI 25-29.9, (I) BMI 30-34.9, (II) BMI 35-39.9, (III) BMI >40. Exclusion criteria were defined as: delivery <37 + 0 weeks p.m., multiple pregnancy, comorbidity other than GDM, abnormal presentation, BMI <18.5, and incomplete data. The main outcome parameter was defined as secondary caesarean delivery rate and mode of delivery. RESULTS: N = 8,379 patients met the inclusion criteria and were divided in two groups: 1, n = 4,464 patients and 2, n = 3,915. Basic maternal characteristics including foetal vital parameters were equal in all groups. GDM occurred more frequently in obese patients (P < 0.001). For the main outcome parameter a significant decrease in the rate of spontaneous delivery between control/test groups (72-66%, P < 0.001) and control/I-III groups (72 vs. 50%, P < 0.001) could be observed. The rate of secondary c-section increased significantly according to a higher BMI (>40: OR 2.5, 95% CI 1.84-3.61, χ (2) P < 0.001). The groups showed no difference in the rate of injuries during delivery though foetal birth weight increased significantly with a higher BMI (3,412-3,681 g; P < 0.001). CONCLUSION: Obesity decreases the chance to deliver spontaneously. Moreover, the obese patient suffers from a significantly longer trial of labour (7.9 vs. 9.5 h) and an elevated risk of surgical delivery.

Prenatal course and outcome in 103 cases of fetal spina bifida: a single center experience.

OBJECTIVE: To investigate the prenatal course and functional outcome for fetuses with spina bifida according to the level of the spinal lesion at prenatal ultrasound examination. DESIGN: Retrospective, descriptive study. SETTING: Tertiary referral center, Germany. POPULATION: A total of 103 fetuses with spina bifida identified between 1993 and 2008. METHODS: The antenatal course and postnatal outcome for affected fetuses were reviewed. The relation of relevant outcome domains to the anatomical level was assessed using Fisher's exact test and the χ(2)-test. MAIN OUTCOME MEASURES: Level and type of spinal lesion, pregnancy outcome, psychomotor development, bladder and bowel function. RESULTS: Our cohort included a total of 31 live born infants, 68 terminated pregnancies, four intrauterine fetal deaths and five postnatal deaths. Four cases were excluded from follow-up. Twenty of the remaining 22 infants had normal or only slightly impaired mental development (91%). Thirteen children (59%) were able to walk, but nine (41%) needed wheelchairs or were paraplegic. The rate of poor motor outcome varied strongly in dependence on the level of the lesion (22.2% at lower lumbosacral levels to 80% at thoracic level). The majority of the affected children (16/22, 72.7%) suffered from impairment of bladder function. In 36% of cases (8/22) anal incontinence was documented. CONCLUSION: Spina bifida can result in a spectrum of disabilities that frequently lead to an impairment of bladder, bowel and motor function. The motor function depended on level of the lesion.

[Significance of reproductive medicine in regard to judicial and ethical concerns in Germany]. / Gesellschaftlicher Stellenwert und juristische Aspekte der Reproduktionsmedizin in Deutschland.

Reproductive medicine becomes more and more important due to demographic changes and an increased demand. Since the German "Embryonenschutzgesetz" was set in 1991 many medical improvements could be achieved which are not covered by law. Health can be improved avoiding multiple pregnancy rates. In Germany we are facing an insufficient law concerning reproductive medicine. Therefore, it is very important to renew the law in order to create a better health supply clearing crucial medical questions.