Transvaginal sonographic fetal axis determination in early second trimester

Objective  Correct prenatal determination of the fetal right/left axis is essential for the diagnosis of fetal malformations, in particular congenital heart anomalies. A reliable method of transabdominal echocardiographic assessment of the fetal situs in the late second trimester was established. We aimed to determine the validity of the transvaginal approach to assess fetal axis. Method  The study group consisted of 108 consecutive women in the second trimester of a singleton pregnancy, undergoing elective transvaginal anatomy scans. All had undergone previous transabdominal echocardiography to establish fetal axis. The same technique was used to assess the fetal axis during the transvaginal study, and the findings were compared. Results  There was total agreement in fetal axis determination between transabdominal and transvaginal scans in all cases. The accuracy of the transvaginal study was not affected by maternal obesity, fetal position or the presence of cardiac malformation (in one case). Conclusion  Transvaginal ultrasonography is the reliable and accurate means of determining the fetal axis. Both affiliations are affiliated with Sackler Faculty of Medicine, Tel Aviv University.     

Impact of methylenetetrahydrofolate reductase (<Emphasis Type="Italic">MTHFR</Emphasis>) codon (677) and methionine synthase (<Emphasis Type="Italic">MS</Emphasis>) codon (2756) on risk of cervical carcinogenesis in North Indian population

Cervical cancer continues to be the most common cause of death among women in developing countries. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are critical enzymes of folate metabolic pathways. In this work, we have conducted a case–control study to assess the role of these two polymorphisms in cervical cancer development. We obtained blood samples from 200 women with cervical cancer and from equal matched controls and analysed using PCR-RFLP method. We found that the methylenetetrahydrofolate reductase variant CT and CT + TT genotypes decreased cervix cancer risk, statistically significant (OR:0.30, 95% CI: 0.18–0.51, P < 0.001 for CT and OR:0.29, 95% CI: 0.18–0.49, P = 0.0000006 for CT + TT). Similarly in those patients who used oral contraceptive with variant CT genotype, there was statistically highly significant reduced risk of cervix cancer (OR:0.25, 95% CI: –0.12–0.49, P < 0.001) of methylenetetrahydrofolate reductase gene. For the methionine synthase, 2756 variant AG and AG + GG genotypes were similarly associated with highly significant reduced risk of cervix cancer (OR: 0.13, 95% CI: 0.07–0.26, P < 0.001 for AG, and OR: 0.15, 95% CI: 0.08–0.27, P < 0.001 for AG + GG) genotypes. In conclusion, our study suggested that methylenetetrahydrofolate reductase and methionine synthase polymorphisms might have protective effect on the risk of cervical cancer in the North Indian women.     

Assessment of the response to chemotherapy in gestational trophoblastic neoplasia with vaginal metastases

Background and goals  This study is designed to survey gestational trophoblastic neoplasia with vaginal metastases (GTN + VM) manifestations, prognosis and chemotherapy response in order to consider appropriate chemotherapy regimen for these patients. There have been just a few studies about treatment of GTN + VM. Materials and methods  Patients with Stage III GTN with or without vaginal metastases who had referred to Vali-e-Asr Hospital during 1996–2006 have been selected to take part in this study and the size of metastases was measured. Then response and resistance to single and combination chemotherapy regimens have been compared in these two groups. The data were processed using SPSS system (release 10). Statistical analysis was done with X² to determine factors associated with complete clinical response. The level of significance was assigned at P < .05. Results  Forty-eight patients with stage III (with pulmonary metastases) GTN patients have been selected, 13 with vaginal metastases and 35 without vaginal metastases. Incidence of vaginal metastases in stage III was 26%. Metastases were mainly in distal part of vagina and suburethra. Chief complaint was severe hemorrhage in 25% of patients and was controlled by vaginal packing with just one exception. Group of vaginal metastases showed 66.6% resistance to first-line chemotherapy, compared to 28.6% in patients with no vaginal metastases (P-value = 0.010). Median of chemotherapy courses in low-risk vaginal metastatic patients was 5 (mean = 5.2), compared to three courses in the group without vaginal metastases. Resistance to single chemotherapy was significantly higher in GTN + VM versus GTN without VM patients and resistance was higher especially in patients with metastases with more than 3 cm (in diameter). Conclusions  Vaginal metastasis with more than 3 cm in diameter is an important prognostic factor in GTN patients. There have higher risks for severe hemorrhage and resistance to single agent chemotherapy, so in these patients combination chemotherapy, with no regard to staging and scoring, would be a better choice. An erratum to this article can be found at     

Femur fracture during abdominal breech delivery

BACKGROUND: While vaginal breech delivery, although rare, can cause femur fracture, abdominal breech delivery is not expected to cause it. CASE: A 2,490-g female infant was delivered at term by elective cesarean section for breech presentation. She sustained a fracture of the femur shaft. A simple splinting led to a complete healing of the fracture without sequelae. CONCLUSION: Although abdominal breech delivery reduces the risk of birth trauma, we must be aware that femur fracture can occur regardless of the mode of delivery.     

Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I

Purpose In women the relationship between myotonic dystrophy type I and fertility remains controversial. The objective of this study was to evaluate the ovarian reserve, ovarian response to stimulation and oocyte quality in these patients. Materials and methods We compared 15 myotonic dystrophy type I patients with 39 age matched controls with isolated male factor infertility necessitating ICSI. Results All parameters of ovarian reserve (day 3 FSH and E2, antral follicle count and delta E2) were significantly better in the controls. Despite having significantly lower doses of gonadotrophin, the control group attained a higher number of retrieved oocyte–cumulus complexes (p < 0.04). Analysis of cytoplasmic and extracytoplasmic dysmorphism did not reveal any difference between the two groups. Fertilisation rate and top grade embryos on day 3 were similar in both groups. Conclusion The present study suggests that though women with myotonic dystrophy type I have a reduced ovarian reserve and respond poorly to controlled ovarian stimulation, there is no impact on oocyte and embryo quality. Hence suggesting that successful ART is feasible with appropriate selection in women with mild myotonic dystrophy. Capsule Women with myotonic dystrophy type I have reduced ovarian reserve and respond poorly to controlled ovarian stimulation, though there is no impact on oocyte quality.     

Two single nucleotide polymorphisms in <Emphasis Type="Italic">PRDM9</Emphasis> (<Emphasis Type="Italic">MEISETZ</Emphasis>) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

Purpose

To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest.

Methods

Mutational screening of the coding regions of human PRDM9, CDK2 and PSMC3IP was done by direct sequencing using genomic DNA from 18 Japanese patients. Statistical analysis of the detected coding single nucleotide polymorphisms (cSNPs) in patients and normal control men was then carried out.

Results

One cSNP was detected in CDK2 and PSMC3IP. There were no significant differences in genotype distribution and allele frequencies between the patient and control groups in these two genes. However, three novel cSNPs were detected in the PRDM9. The genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient group than in the control group.

Conclusion

We found a possible association between PRDM9 and azoospermia by meiotic arrest.

     

Natural IVF cycles may be desirable for women with repeated failures by stimulated IVF cycles

Purpose Although many reports support stimulated in vitro fertilization, several patients do not respond to it well. Furthermore, stimulated treatment could be associated with reduced ovarian response. We describe three successful cases involving patients of advanced age from whom dominant follicles were retrieved during the natural cycle. Materials and methods All patients had failed to bear children through stimulated in vitro fertilization. In case 1, a follicle was retrieved after a gonadotropin-releasing hormone agonist was used to induce luteinizing hormone surge. In cases 2 and 3, pregnancy was achieved via completely natural cycles. Results One embryo was transferred every 16 cycles. Ongoing pregnancy—defined as pregnancy progressing beyond gestation week 9—was established in three cycles. The patients successfully delivered and had uneventful neonatal courses. Conclusion Mature oocyte retrieval followed by natural rather than stimulated in vitro fertilization might be a potential treatment for patients of advanced age when stimulated in vitro fertilization has been repeatedly unsuccessful. Capsule We describe three successful pregnancies and deliveries achieved via natural IVF cycles: the patients were older than 37 years with repeated failures by stimulated IVF.