High HbF in pregnancy is associated with the Xmn I polymorphism at the −158bp of the Gγ-globin gene

HbF was measured in the peripheral blood of 354 women during the first trimester of pregnancy. In those (n=6) with HbF > 3% and in 30 randomly selected pregnant women with normal HbF values, analysis of the Gγ content and the Xmn I polymorphism was performed. The frequency of the Xmn I polymorphism was significantly higher (P < 0.001) in the group with high HbF (0.67) compared to the control group (0.10). The Gγ chain content evaluation revealed a newborn ratio in all 6 high HbF subjects. Six months after delivery, HbF was measured in all women with high HbF during pregnancy, revealing normal values. These results suggest that the presence of the Xmn I polymorphism is a strong inducer for the elevation of HbF during pregnancy.     

Conservative surgical methods for FIGO stage IA2 squamous cervical carcinoma and their role in preserving women's fertility

OBJECTIVE: Until recently, the treatment of choice for stage IA2 squamous cervical cancer has been radical hysterectomy with pelvic node dissection. However, many of these cases occur in younger women, for whom the preservation of fertility is desirable. More conservative methods have emerged as alternative treatment modalities for these women, as they may allow for future fertility, without having a considerable adverse effect on cure rates. The objective of this review is to present the published data on these methods (radical vaginal, abdominal or laparoscopic trachelectomy and laparoscopic pelvic lymphadenectomy, deep cold-knife excision and lymphadenectomy, ovarian transposition and radiotherapy) and comment on their clinical role. METHOD: A detailed literature search was done in MEDLINE (1966-2003), EMBASE (1974-2003) and CINAHL (1982-2003) for data on cure rates, survival and reproductive outcome of radical vaginal trachelectomy as well as other conservative treatment options. RESULTS: The recurrence rates after radical trachelectomy range from 0% to 8% and are comparable to reported results from series of patients treated with radical hysterectomy. There are over 35 reported live births out of approximately 210 women who had this operation. However, the rates of second trimester losses and preterm deliveries due to cervical weakness are high. Data from the other methods are limited. CONCLUSION: Vaginal radical trachelectomy is currently the fertility-sparing procedure with the most available data supporting its use. Although these results are encouraging, there is lack of level I evidence (i.e. randomized controlled trials) comparing safety and survival rates between conservative and radical methods. Therefore, these techniques should be used by fully trained operators, with the understanding that this is not the standard treatment at present.     

Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy

Prenatal sonographic diagnosis of fetal akinesia deformation sequence (FADS) is usually achieved during the second and third trimester of pregnancy and relies on the demonstration of contractures of multiple joints, paucity of fetal movements and nuchal edema or generalized hydrops. We present the early diagnosis of FADS in a 13-week fetus presenting with nuchal translucency thickness (NT) of 5.1 mm, bilateral talipes and fixed flexion deformity of the fingers and wrists. We also review cases of this condition diagnosed during the first trimester and discuss the role of increased NT in the early diagnosis of FADS even in cases without previous history of an affected child.     

Role of testicular tissue telomerase assay for the prediction of the presence of testicular spermatozoa in azoospermic men with varicoceles, pre- and post-varicocelectomy

We evaluated the reproductive potential of frozen/thawed testicular spermatozoa of azoospermic men with left varicocele. The role of testicular tissue telomerase assay (TTA) in the prediction of the presence of testicular spermatozoa pre- and post-varicocelectomy was investigated, as well. Therapeutic testicular biopsy and TTA were performed in 82 nonobstructed azoospermic (NOA) men with varicoceles. Testicular spermatozoa were found in 33 men and processed for cryopreservation. Oocytes were later recovered from the spouses of the latter azoospermic men with varicoceles and injected with frozen/thawed testicular spermatozoa. Among the 49 men who were negative for testicular spermatozoa, 22 men underwent subsequently subinguinal microsurgical varicocelectomy. A total of 198 mature oocytes were successfully injected and 101 were normally fertilized and subsequently cleaved. Transfer of these 101 embryos in 26 women resulted in nine full-term pregnancies. Thirteen healthy babies were delivered. A cut-off value of TTA of 39 TPG U microg(-1) protein had an overall diagnostic accuracy equal to 90.2% to predict the presence of testicular spermatozoa pre-varicocelectomy. Within the group of men who were negative for testicular spermatozoa a cut-off value of TTA equal to 28 TPG U microg(-1) protein (pre-varicocelectomy) had a 84.2 % diagnostic accuracy to recognize the men who would become positive for either ejaculated or testicular spermatozoa post-varicocelectomy. Testicular spermatozoa can be found in 40% of NOA men with left varicocele. Ooplasmic injections with frozen/thawed testicular spermatozoa have a role in the therapeutic management of non-obstructive azoospermia associated with varicocele. Pre-varicocelectomy, a TTA cut-off value equal to 39 TPG U microg(-1) protein has a 90.2% diagnostic accuracy to indicate the men positive/negative for testicular spermatozoa. In addition, pre-varicocelectomy, a cut-off value equal to 28 TPG U microg(-1) protein has a 84.2% diagnostic accuracy to identify those men with varicoceles without testicular spermatozoa, who will become positive/negative for spermatozoa (either ejaculated or testicular) post-varicocelectomy.     

Short-term safety of celocentesis for the mother and the fetus.

OBJECTIVE: Celocentesis offers the potential for prenatal diagnosis from as early as 6 weeks of gestation. The aim of this study was to examine the short-term safety of celocentesis. METHODS: Eligible for the study were pregnant women with single live fetuses at 6-10 weeks of gestation, requesting pregnancy termination for social indications. At presentation, the patients were asked if they were willing to undergo celocentesis and in those women who agreed the procedure was performed at the time of the initial scan. A second scan was carried out just before termination to measure fetal crown-rump length and heart rate. RESULTS: Four hundred and forty-seven women requested termination of pregnancy and 108 of these agreed to have celocentesis. There were no significant differences between the groups in maternal age, prevalence of primigravidas, cigarette smokers, existence of uterine fibroids, the median fetal crown-rump length or the interval between the initial scan (or celocentesis) at presentation and the pregnancy termination. At the time of termination, ultrasound examination demonstrated fetal death in five (4.7%) of the celocentesis group and nine (2.7%) of the controls (odds ratio, 1.804; 95% confidence interval, 0.5912-5.504). In all other cases, there was normal fetal growth and there were no significant differences between the groups in fetal crown-rump length. CONCLUSIONS: The procedure related fetal loss associated with celocentesis may be approximately 2%.     

Typing of the immunological system in human embryos by coelocentesis

Coelocentesis offers a new opportunity for gaining access to the human embryos from 28 d postfertilization. However, while some studies about its biochemical composition have been reported, our knowledge about immunological pattern of this compartment is still limited. For this reason, we studied the human coelomic fluids sampled from 6.6 to 10 wk of gestation. The majority of cellular population consisted in mesenchymal/epithelial cells. In fluids sampled before 10 wk we found only a preT Cell Receptor expression and an absence or a very low frequency of B lymphocytes, T lymphocytes and NK (natural killer) antigens. These preliminary data suggest that the immunological system in human embryos could be in the ideal conditions to start a process of tolerance induction.     

Assessment of sperm chromatin condensation and ploidy status using flow cytometry correlates to fertilization,embryo quality and pregnancy following in vitro fertilization

Purpose  

Sperm flow cytometry (SFC) was used to evaluate the association of sperm chromatin condensation and ploidy with fertilization, embryo development, pregnancy and abortion rates following IVF.     

FNAC: its role, limitations and perspective in the preoperative diagnosis of breast cancer

Fine-needle aspiration cytology (FNAC) was first described and performed in 1930. Thirty years later, it gained acceptance first in Europe and about a decade later in North America. The method is generally considered as a rapid, reliable, safe diagnostic tool to distinguish non-neoplastic from neoplastic breast lesions. In developed countries, in the last 20 years, mammographic screening programmes, which have been used extensively, are designed to detect the earliest possible breast cancer. The FNAC report is extremely important because it gives the necessary information for the management of patients, in order to proceed with more invasive diagnostic methods or surgical treatment, and to decide what kind of operation to perform. In the preoperative phase, FNAC has taken a fundamental role of both palpable and nonpalpable lesions, using ultrasound or stereotactic guidance. New developed techniques, breast biopsy instrumentation (ABBI) and mammotome have the advantage of complete removal of breast lesions, but this is not possible in all the examined cases. In developing countries, economical restrictions, low budget for health care and screening programmes put the patients at a disadvantage because of the high cost of sophisticated diagnostic methods, thus we recommend that FNAC be used as a routine diagnostic method because of its low cost compared with the others and this policy maximizes the availability of health care to women with breast cancer. We conclude that FNAC plays an important and essential role in the management of patients with breast lesions and also offers a great potential for prediction of patient outcome, disease response to therapy and assessment of risk of developing breast cancer. The reliability and efficiency of the method depends on the quality of the samples and the experience of the medical staff that performs the aspiration.