Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications.

OBJECTIVE: To evaluate the incidence of chromosomal aberrations and the clinical outcomes following the prenatal diagnosis of isolated perimembranous ventricular septal defect (pVSD). METHODS: This retrospective study was composed of a cohort of pregnant women whose fetuses were diagnosed with isolated pVSD. Complete examinations of the fetal heart were performed, as well as a postnatal validation echocardiography follow-up at 1 year of age. The collected data included: spontaneous closure of the pVSD, need for intervention, chromosomal aberrations and postnatal outcome. RESULTS: Fifty-five pregnant women were included in the study. 34/55 (61.8%) of the fetuses underwent prenatal genetic workup which revealed no abnormal results. No dysmorphic features or abnormal neurological findings were detected postnatally in those who declined a prenatal genetic workup during the follow-up period of 2 years. In 25/55 of the cases (45.4%), the ventricular septal defects (VSD) closed spontaneously in utero, whereas in 17 cases of this group (30.9%) the VSD closed during the first year of life. None of the large 3 VSDs cases (>3 mm), closed spontaneously. CONCLUSION: Prenatally isolated perimembranous VSD has a favorable clinical outcome when classified as small-to-moderate size, children in our cohort born with such findings had no macroscopic chromosomal abnormalities.

Can pregnancy rate be improved in gonadotropin-releasing hormone (GnRH) antagonist cycles by administering GnRH agonist before oocyte retrieval? A prospective, randomized study.

OBJECTIVE: To examine whether the addition of one dose of preovulatory GnRH agonist could improve implantation and pregnancy rates in GnRH antagonist IVF cycles. DESIGN: Prospective, randomized clinical trial. SETTING: University-affiliated IVF and infertility unit. PATIENT(S): Two hundred twenty-one patients intended for GnRH antagonist protocol IVF. INTERVENTION(S): Patients were prospectively randomized to two groups. The control group received hCG (5,000 U) 34 hours before oocyte aspiration, and the study group received triptorelin (0.2 mg SC) in addition to hCG. All other treatment parameters were identical. MAIN OUTCOME MEASURE(S): Oocyte pick-up day serum levels of E(2), P, LH, and FSH and implantation and pregnancy rates per started cycle and per completed cycle. RESULT(S): A total of 200 ET cycles were carried out: 97 in the study group and 103 in the control group. None of the cycle parameters of the study or control groups differed, excepting mean oocyte pick-up day FSH (11.26 IU/L [95% confidence interval (CI) 9.88-12.52] vs. 6.27 IU/L [95% CI 5.76-8.77]) and LH levels (5.19 IU/L [95% CI 4.47-5.9] vs. 3.28 IU/L [95% CI 2.22-4.18]). The implantation rate was 19.9% (52 of 261) for the study group and 13.9% (35 of 251) for the control group. The pregnancy rate in completed cycles and the ongoing pregnancy rate per ET were significantly higher in the study group than in the control group: 29.1% (30 of 103) in the control group and 44.3% (43 of 97) in the study group, and 22.3% (23 of 103) and 36.1% (35 of 97), respectively. However, the improvement in pregnancy rate per started cycle did not reach statistical significance (40.9% vs. 28.3%). CONCLUSIONS: The administration of triptorelin (0.2 mg) at the time of hCG administration in GnRH antagonist IVF cycles significantly improved overall and ongoing pregnancy rates in completed cycles but not in all started cycles. It is possible that this was achieved owing to an endometrial GnRH receptor effect, which should also be examined by direct endometrial studies.