Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene

Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who died from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome.     

Ultrasound screening for fetal major abnormalities at 11-14 weeks

BACKGROUND: This study was planned to evaluate the efficiency of the 11-14 week scan in detecting fetuses with major fetal structural abnormalities. METHODS: Some 1,290 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week after the detection of the fetal viability. The fetal anatomy was examined transabdominally, and in suspected cases transvaginally. Following the scans, the patients were examined in the second or third trimester of pregnancy. Fetal structural abnormalities classified as major and early onset were noted. Isolated choroid plexus cysts, cardiac defects not requiring treatment, mild ventriculomegaly, and mild renal pelviectasis in second trimester were not included. RESULTS: Twenty-four (1.86%) fetuses with various defects were identified, and 17 of these were diagnosed at the 11-14 week scan. The antenatal ultrasound detection rate of the fetuses with major anomalies was 95%, and 70% were detected in the first-trimester assessment. Four cardiac defects associated with genetic syndromes or requiring operation were included (0.31%) in this series. Two of the fetuses with cardiac defects (50%) had an increased nuchal translucency thickness. In this group, none of the fetuses with karyotype anomalies was born alive. CONCLUSIONS: The first-trimester scan is important in routine antenatal care for early detection of fetal defects, and determination of the fetuses at risk of cardiac anomalies and genetic syndromes.     

Retrieval of zona-free immature oocytes in a woman with recurrent empty follicle syndrome: a case report

BACKGROUND: Different ovulation trigger methods such as gonadotropin releasing hormone-agonist (GnRH-a) and recombinant human chorionic gonadotropin (r-hCG) plus rescue oocyte retrieval might reveal oocytes in patients with recurrent empty follicle syndrome. CASE: Endogenous luteinizing hormone was triggered with a GnRH-a (Buserelin [Suprefact pro-injection, Aventis-Pharma, Turkey], 250 microg subcutaneously) in a GnRH antagonist (Cetrorelix [Cetrotide 0.25, SeronoTurkey], 0.25 mg/d, starting on day 6), down-regulated cycle. At the first scheduled retrieval, 3 cumulus-oocytecorona complexes were recovered from the left ovary. During chemical denudation with hyaluronidase, 2 of them underwent lysis. The third was a zona-free, germinalvesicle-stage oocyte after mechanical denudation. Oocyte pickup was stopped, and recombinant human chorionic gonadotropin (hCG) (250 microg subcutaneously) was injected. Five cumulus-oocyte-corona complexes were retrieved from the right ovary 24 hours after rescue with recombinant hCG. Only mechanical denudation was done, and 4 zona-free oocytes with germinal vesicle breakdown were seen. All oocytes underwent intracytoplasmic sperm injection, and none of them were fertilized. CONCLUSION: Oocyte maturation defects should be included in etiologic mechanisms for counseling patients with empty follicle syndrome.     

Long-term use of gonadotropin-releasing hormone analogues before IVF in women with endometriosis

PURPOSE OF REVIEW: To discuss the relationship between endometriosis and infertility, the impact of endometriosis on assisted reproductive techniques and also the benefits of prolonged use of gonadotropin-releasing hormone analogue before IVF in women with endometriosis. RECENT FINDINGS: The available evidence suggests that endometriosis is strongly associated with infertility. Many studies indicate lower pregnancy and implantation rates even in assisted reproductive cycles in women with endometriosis. It is well known that medical suppression of endometriosis does not appear to be warranted for endometriosis-associated infertility. Prolonged pretreatment with gonadotropin-releasing hormone analogue before IVF has been reported to improve clinical pregnancy rates in infertile women with endometriosis. SUMMARY: Based on the recently published data, infertile women with endometriosis may benefit from long-term pretreatment of gonadotropin-releasing hormone analogue prior to IVF.     

Cumulative exposure to high estradiol levels during the follicular phase of IVF cycles negatively affects implantation

Purpose: To investigate the effect of the cumulative exposure to estradiol (E₂) during the follicular phase on IVF outcome. Methods: Patients were stimulated with recombinant FSH after GnRH agonist suppression and had a day 3-embryo transfer. Estrogen exposure was determined as the area under the curve (AUC) for serum E₂ levels measured from the first day of stimulation through the day after hCG administration. Results: E₂ AUC thresholds for 10th and 90th percentiles were 4704 pg/ml and 16338 pg/ml, respectively. The pregnancy and implantation rates were highest in the 10th–90th percentile group, and were statistically higher in this group than in the >90th percentile group (54.6% vs. 33.3% and 24.8% and 12.9%, respectively, for pregnancy and implantation rates, P < 0.05). Recovered mature oocytes, fertilization, and number and mean score of transferred embryos were similar. Conclusions: High cumulative E₂ exposure during the follicular phase of IVF cycles has detrimental effects on implantation.     

Hypersensitivity to aeroallergens in patients with recurrent vulvovaginitis of undetermined etiology

AIM: Recent findings show that the vaginal mucosa can develop an allergic response to environmental allergens and there is a strong association between atopy and some recurrent vulvovaginal infections. In this study, we investigated prospectively the rate of atopy in patients with recurrent vulvovaginitis of undetermined etiology (RVV). MATERIAL AND METHODS: After being investigated by a gynecologist, 35 patients with RVV who were considered as undetermined etiology formed the study group. The control group consisted of 150 healthy females. Study and control groups were investigated for atopy by means of skin prick test for common aeroallergens. Associated allergic disease and familial atopy history of the subjects were recorded. RESULTS: The rate of atopy (11/35; 31.4% vs 9/150; 6%) was significantly higher (P < 0.001) in the study group than in the controls. Familial history of atopy was significantly more frequent in the study group than in the controls (10/35; 28.6% vs 8/150; 5.3%, P < 0.05). RVV in atopics is more associated with seasonal rhinitis than in nonatopics (5/11; 45.4% vs 2/24; 8.3%, P < 0.05). CONCLUSION: We concluded that a significant number of RVV is associated with atopy. Although the exact mechanism(s) of this relationship remains to be investigated atopy might be a causative and/or contributing factor in the pathogenesis of RVV.     

Posterior leukoencephalopathy syndrome as a cause of reversible blindness during pregnancy

Cortical blindness is a rare and dramatic complication of pre-eclampsia. The precise nature of the pathogenesis of this condition has not previously been understood. Three preeclamptic patients with unremarkable previous medical history presented with acute blindness between the 28th and 33rd weeks of pregnancy. They were all diagnosed as posterior leukoencephalopathy syndrome (PLES). In all these patients, MRI study revealed the typical feature of gray-white matter edema localized to the temporo-parieto-occipital areas. Vision and MRI findings were restored in all patients after delivery. Although PLES has been described as a puerperal clinicoradiologic entity, it may be seen in preeclamptic-eclamptic patients during the pregnancy. Therefore neuro-imaging studies should be carried out in pregnant patients with visual disturbances in order to exclude PLES. Prompt diagnosis, immediate control of blood pressure, and elimination of possible causes resolves clinical and imaging findings.