Pelvic factor infertility: diagnosis and prognosis of various procedures.

Infertile women are examined to exclude tubal occlusion or a pelvic factor through indirect tests, such as hysterosalpingography (HSG), sonohysterosalpingography/hysterosalpingosonography (SH), and/or laparoscopy (Lps). Assisted reproductive technologies (ART) are proposed to resolve infertility according to the results of the above-mentioned diagnostic procedures. Today, Lps still represents the second option after several failures of in vivo attempts and before moving to conceive in vitro. The aim of this study was to establish the diagnostic power of HSG and SH compared with that of Lps and the efficacy of ART when each single test is used as an inclusion criterion. We recruited 2560 infertile women (aged 20 to 35) to undergo diagnostic and therapeutic procedures to address their infertility in our clinical theatre. Of these, 1080 women underwent Lps and hysteroscopy (Group 1), 525 underwent HSG (Group 2), and 955 underwent SH (Group 3). The positive and negative predictive values of sonosalpingosonography were 75.8% and 91.2% and those of hysterosalpingography were 71.8% and 88.2%, respectively. Endometriosis (stage II-IV of the revised American Society for Reproductive Medicine [ASRM] classification) was diagnosed laparoscopically in 344 out of 1080 women (32%). Only 44 women (13%) with endometriosis showed bilateral tubal occlusion. Pelvic factors other than tubal occlusions are neither diagnosed nor treated in a timely manner by indirect tubal patency tests. The conventional use of HSG and/or SH may increase the time required to find an adequate treatment by which to achieve a successful pregnancy.

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

We describe a sib recurrence for achondroplasia with parents of average stature. The three sibs shared the paternal allele and all carried the same causal mutation in the fibroblast growth factor receptor 3 gene (FGFR3): G > A nt1138 (Gly380Arg). We were able to identify this mutation on sperm DNA confirming paternal germinal mosaicism. Our family shows that a more precise definition of the recurrence risk is feasible using this approach, based on a single DNA test, which could be offered in selected cases.

The patterns of uterine contractility in normal menstruating women: from physiology to pathology.

The nonpregnant uterus shows uterine activity throughout the menstrual cycle. This uterine activity was detected both by single strep tissue and by using intrauterine pressure recordings in vitro and in vivo. Today, ultrasound has made it possible to study this activity with a noninvasive approach and to assess uterine contractions (UCs) in real-time movements of the uterus. Throughout the menstrual cycle, wavelike activity patterns of the reproductive organ were established. These patterns are under control of steroid hormones. Adequate UCs may provide for gamete/embryo transportation throughout the uterotubal cavities and successful embryo implantation in spontaneous and/or assisted reproduction. Inadequate UCs may produce ectopic pregnancy, miscarriages, retrograde bleeding with dysmenorrhea, and endometriosis.

Vaginal parturition decreases recurrence of endometriosis.

OBJECTIVE: To evaluate the role of parturition in the recurrence of endometriosis. DESIGN: Retrospectively analyzed, prospectively obtained data. SETTING: Unit of Physiopathology of Reproduction, Health Care Unit of Rimini, and University of Bologna Cervesi General Hospital, Cattolica, Italy. PATIENT(S): Three hundred forty-five patients with stage II-IV endometriosis, dysmenorrhea, and infertility were treated for endometriosis and divided into four groups according to parity and mode of parturition. INTERVENTION(S): The patients were laparoscopically treated for endometriosis upon the occurrence and recurrence of the disease. Ultrasound measurements of the uterine internal ostium (IOS) were performed at each study interval. MAIN OUTCOME MEASURE(S): Degree of dysmenorrhea, occurrence and recurrence of endometriosis, and uterine IOS measurements were established and related to parity and mode of parturition. RESULT(S): After parturition, dysmenorrhea recurrence was significantly higher in nulliparous women than in women with vaginal parturition. The endometriosis recurrence rate was higher in women who did not have vaginal parturition. The IOS significantly enlarged after vaginal delivery but not after cesarean delivery. There were significant negative correlations between IOS and the recurrence of endometriosis and dysmenorrhea. Odds ratios indicated that as the IOS enlarged, the risk of recurrence decreased. CONCLUSION(S): Vaginal parturition plays a protective role in the recurrence of endometriosis.