Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis. CASE PRESENTATION: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life. Microcephaly with bitemporal narrowing, dyspraxia, poor eye contact and strabismus were also noted. At 10 months, the proband exhibited focal seizures and required valproic acid treatment. Array-Comparative Genomic Hybridization revealed a 4.09 Mb deletion in 14q12 region, encompassing the FOXG1 and NOVA1 genes. The proband presented similar feature with patients with 14q12 deletions except for dysgenesis of corpus callosum. Disruption of the NOVA1 gene which promotes the motor neurons apoptosis has not yet been linked to any human phenotypes and it is uncertain if it affects our patient's phenotype. CONCLUSIONS: Since our patient is the first reported case with deletion of both genes (FOXG1-NOVA1), thorough clinical follow up would further delineate the Congenital Rett-Variant phenotypes.

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.

Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the limitations in their identification, have presented a diagnostic problem. In order to determine the origin of sSMCs, we used a variety of fluorescence in situ hybridization (FISH) methods, including centromere-specific multicolor FISH, acrocentric specific multicolor FISH, subcentromere-specific multicolor FISH and multicolor FISH with whole chromosome paint probes. Moreover, uniparental disomy testing was in all cases attempted. From a total of 28,000 pre-natal samples from four diagnostic genetics laboratories in Greece, 23 (0.082%) supernumerary marker chromosomes were detected. The mean maternal age was 36.2 years (range 27-43) and the mean gestational age at which amniocentesis was performed was 18.5 weeks (range 16-23). Eighteen markers were de novo and 5 markers were inherited. Molecular cytogenetic methods were applied to determine the chromosomal origin and composition of the sSMC. In total, 17 markers were derived from acrocentric chromosomes (14, 15, 21 and 22) and 6 markers were non-acrocentric, derived from chromosomes 9, 16, 18, 20 and Y. Uniparental disomy was not detected in any of the cases studied. With regard to pregnancy outcome, 13 pregnancies resulted in normal healthy neonates, while 10 pregnancies were terminated due to ultrasound abnormalities. A total of 23 marker chromosomes from 28,000 pre-natal samples (0.082%) were identified. Molecular cytogenetic techniques provided valuable information on the chromosomal origin and composition of all the sSMCs. Especially in cases with normal ultrasound, the FISH results rendered genetic counseling possible in a category of cases previously considered a diagnostic problem. Abnormal outcome was observed in 10 cases (43,5%), 7 of which showed abnormal ultrasound findings. New technologies, such as array-comparative genomic hybridization, should be used in future genotype-phenotype correlation studies, although the high mosaicism rate poses a problem.

The effect of fetal sex on the outcome of labour induction.

The aim of this study was to determine the effect of fetal sex on the process and the outcome of induction of labour. This was a retrospective study of 658 women carrying singleton cephalic pregnancies induced at 37-42 completed weeks' gestation. Male fetuses demonstrated significantly more CTG abnormalities and need for fetal blood sampling. Male infants were also more likely to be delivered by emergency caesarean section. The total admission rate to the neonatal unit was higher among male babies. Male infants do not tolerate induction of labour as well as females. Fetal sex can be used as a predictive factor of the outcome in cases of induced labour.

Menstrual problems in university students: an electronic mail survey.

OBJECTIVE: To establish the prevalence of menstrual-related problems among university students. MATERIALS AND METHODS: A questionnaire regarding gynecological, bleeding and family history was sent by electronic mail (e-mail) to all female students attending University College London (UCL). RESULTS: A total of 767 students aged 18-39 years replied; 71% had a regular menstrual cycle. One in three (n = 264) had received some treatment for their menstrual periods (such as the combined oral contraceptive pill or simple analgesia). Those with heavy or painful periods were more likely to feel that their menstrual problems had a substantial impact on their academic and social life; however, even among those with light periods, one in every four females felt that their life was considerably affected. CONCLUSION: A considerable prevalence of menstrual-related problems was demonstrated among this young healthy population. Additionally, the use of e-mail could present potential benefits as a research medium for this kind of study.

Screening for pre-eclampsia by oxidative stress markers and uteroplacental blood flow.

Recent evidence suggests that the oxidative stress is an important factor in the pathophysiology of pre-eclampsia. The purpose of this study was to evaluate the possible relationship between increased resistance at the Doppler assessment of the uterine arteries between 20-23 gestational weeks and biochemical markers of oxidative stress, with the development of pre-eclampsia and/or growth restricted infants. This was a prospective study of 34 pregnant women with normal uteroplacental flow and 30 women with abnormal uterine arteries Doppler analysis (mean PI >or= 1.60) during the transvaginal assessment of the uterine arteries at the routine anomaly scan. Blood samples were obtained in order to assess the plasma oxidative stress, namely malondialdehyde (MDA) and uric acid levels. The MDA was significantly higher in the group of women with abnormal uterine arteries Dopplers. This group is at increased risk for the development of pre-eclampsia. The uric acid levels did not differ significantly between the two groups of women. There was no significant difference regarding the sensitivity or the specificity of the uterine arteries Doppler examination in detecting pre-eclampsia in comparison to the combination of oxidative stress and Doppler's. Our study provides additional evidence regarding the role of oxidative stress in the pathophysiology of pre-eclampsia. Whether antioxidant supplementation in the group of women with abnormal uterine Doppler's is effective in reducing the incidence of the disease remains to be established.

Transforming a conventional theatre into a gynaecological endoscopy unit.

OBJECTIVE: Most minimally invasive procedures are now performed in operating rooms that were originally designed for traditional open surgery. We designed an endoscopic theatre based on our experience with special features specific for gynaecological endoscopy. METHOD: We designed a detailed plan with an architect's aid of a gynaecological unit (based on a Greek presidential decree published in 1991). The space utilized was that of a conventional theatre. RESULTS: With the architectural plan we anticipated every area needed in a gynaecological endoscopic theatre. A twin theatre was considered appropriate in order for the surgical team to operate alternatively in one theatre while the other is being cleaned and prepared for use. CONCLUSION: The design of a unit dedicated to gynaecologic laparoscopy is a multidisciplinary task where the endoscopic surgeon undertakes an active and prominent role. It is a project with great benefits and rewards for all parties involved. We present our design for evaluation.

Cesarean vs. vaginal birth for term breech presentation in 2 different study periods.

OBJECTIVE: To compare outcomes for fetuses at term in breech presentation during 2 periods when different delivery policies were in effect. METHODS: Outcomes of the 392 planned vaginal deliveries and 1160 elective cesarean sections (CSs) performed from January 1, 1988, through December 31, 2000, were compared with those of the 24 emergency vaginal deliveries, the 403 planned CSs, and 75 emergency CSs performed from January 1, 2001 through December 31, 2004 at Alexandra Hospital, Athens, Greece. RESULTS: A significant difference was found in rates of low 5-minute Apgar score, birth trauma, serious neonatal morbidity, and admission to the neonatal intensive care unit (0% vs. 1.02% [P=0.004], 1.02% vs. 0% [P=0.004], 3.06% vs. 0.43% [P<0.001], and 2.8% vs. 0.43% [P<0.001], respectively) between neonates born by planned vaginal delivery and those born by elective CS during the first period. Only a reduction in rates of admission to the neonatal intermediate care unit was found between the first and second periods. CONCLUSIONS: Planned CS was found to be safer than planned vaginal delivery for fetuses at term in breech presentation. However, the study did not demonstrate that the change in policy improved neonatal outcome.