Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome.

Koolen de Vries syndrome is a rare genetic disorder with an estimated prevalence 1:16000 in the general population but it is considered to be an underdiagnosed syndrome. We report a 17q21.31 microdeletion which was diagnosed prenatally in a fetus with aberrant right subclavian artery (ARSA). Koolen de Vries syndrome is a rare chromosomal abnormality and according to the literature this is the first case in which the detection of ARSA led to this syndrome.

Predictive value of repeated measurements of luteal progesterone and estradiol levels in patients with intrauterine insemination and controlled ovarian stimulation.

OBJECTIVE: The objective of this study is to assess if the difference of repeated measurements of estradiol and progesterone during luteal phase predict the outcome of intrauterine insemination. DESIGN: Prospective study. SETTING: Reproductive clinic. PATIENTS: 126 patients with infertility. INTERVENTION(S): Patients underwent controlled ovarian stimulation with recombinant FSH (50-150 IU/d). The day of IUI patients were given p.o natural micronized progesterone in a dose of 100 mg/tds. RESULTS: The area under the receiver characteristic operating curve (ROC curve) in predicting clinical pregnancy for % change of estradiol level on days 6 and 10 was 0.892 with 95% CI: 0.82-0.94. A cutoff value of change > -29.5% had a sensitivity of 85.7 with a specificity of 90.2. The corresponding ROC curve for % change of progesterone level was 0.839 with 95% CI: 0.76-0.90. A cutoff value of change > -33% had a sensitivity of 85 with a specificity of 75. CONCLUSIONS: The % change of estradiol and progesterone between days 6 and 10 has a predictive ability of pregnancy after IUI with COS of 89.2% and 83.4%, respectively. The addition of % of progesterone to % change of estradiol does not improve the predictive ability of % estradiol and should not be used.

Performance of the ultrasound examination in the early and late third trimester for the prediction of birth weight deviations.

OBJECTIVES: This study aimed to define the optimal gestational age in the third trimester, early (30-33 weeks + 6 days) versus late (34-37 weeks), for performing an ultrasound examination for fetal biometry to predict birth weight deviations: small for gestational age (SGA ≤ 5th centile) and large for gestational age (LGA ≥ 95th centile) neonates. METHODS: We used an observational cross-sectional study in uncomplicated singleton pregnancies that had a third trimester ultrasound for fetal biometry and umbilical and middle cerebral fetal Doppler studies. Estimated fetal weight and fetal Doppler parameters were the examined variables for the prediction of SGA and LGA. RESULTS: Three thousand six hundred ninety women had an early examination, and 2288 women had a late one. For a screen-positive rate of 10%, estimated fetal weight achieved 58% and 53.4% sensitivity for the prediction of SGA [area under the curve (AUC) = 0.8578, p < 0.001] and LGA (AUC = 0.8547, p < 0.001), respectively, by the early examination. Accordingly, the sensitivities significantly increased to 75.2% and 63.2% for the prediction of SGA (AUC = 0.9074, p < 0.001) and LGA (AUC = 0.8782, p < 0.001), respectively, by the late examination. The inclusion of the Doppler indices did not improve the predictive models. CONCLUSIONS: A late third trimester ultrasound was superior in the prediction of SGA and LGA, and this improvement was more pronounced for the prediction of SGA.

Third trimester ultrasound for the prediction of the large for gestational age fetus in low-risk population and evaluation of contingency strategies.

OBJECTIVE: Evaluation of the effectiveness of third trimester fetal biometry and Doppler studies in predicting the birth of a large for gestational age neonate (LGA ≥ 95(th) centile). Assessment of the value of integrated models (combining maternal characteristics, first trimester parameters, third trimester fetal biometry) and the usefulness of contingency strategies. METHOD: Observational cross-sectional study on 2308 uncomplicated singleton pregnancies examined at 11 to 14 weeks and at 30 to 34 weeks. RESULTS: Ultrasound estimated fetal weight (EFW, area under the curve (AUC) = 0.83) was the best single predictor of LGA. Maternal weight, delta nuchal translucency and EFW were independent predictors for the integrated model, but the latter was not statistically better (AUC = 0.84) than using EFW alone. The detection rates for LGA were 72.5% and 73.7% for a 25% screen positive rate, by EFW and the third trimester integrated model respectively. A contingency strategy of rescanning 50% of the population in the third trimester according to the risk estimation by a first trimester prediction model results in detection rate of 64.7% for LGA for the same 25% screen positive rate (AUC = 0.78). CONCLUSIONS: Third trimester ultrasound is an effective screening modality for identifying fetal macrosomia. A contingency strategy utilizing first trimester parameters can reduce the need for unnecessary examinations.

The prevalence of glucose metabolism abnormalities in Greek women with polycystic ovary syndrome.

The prevalence of glucose metabolism abnormalities in PCOS women worldwide varies between 10 and 40% but there are no data in Greek PCOS women. In this retrospective study the prevalence of glucose abnormalities and the indices of insulin resistance (IR) and whole-body insulin sensitivity were estimated in a Greek population with PCOS. Impaired glucose tolerance (IGT), impaired fasting glucose (IFG) and type 2 diabetes mellitus (t2DM) were calculated. The prevalence of IGT, IFG and t2DM in our PCOS population was 7.6, 5.1 and 1.7%, respectively. The total prevalence of glucose abnormalities was estimated as 14.1%. The prevalence of t2DM was three- to four-fold higher than in the general Greek female population of the same age as this was estimated by 2, recently published studies. PCOS women with increased BMI and waist circumference and age greater than 30 years, present more severe IR and decreased whole-body insulin sensitivity. Our data indicates a relatively high prevalence of glucose intolerance and t2DM in a Greek population with PCOS. Obese women with PCOS are in higher risk to develop glucose abnormalities and probably t2DM later in life and therefore every woman diagnosed with PCOS should undergo a 2-h post load OGTT.

Correlation between maternal first trimester plasma leptin levels and birth weight among normotensive and preeclamptic women.

OBJECTIVE: To determine the connection between maternal first trimester serum leptin levels and newborn weight. METHODS: The study included 37 preeclamptic women and 53 normotensive women who considered the control group. Maternal blood samples were withdrawn at 13 weeks of gestation for the measurement of leptin concentrations. Birth weights were transformed to z-scores according to maternal and obstetrical features, based on customized centiles. Non-parametric tests, student's t-test, Pearson's correlation, Spearman's correlation and linear regression analysis were performed in our analysis. RESULTS: Pre-pregnancy body mass index and first trimester maternal plasma leptin levels were significantly higher among women with preeclampsia (p=0.015 and p<0.001, respectively). Birth weight z-score was negatively correlated with leptin levels (r= -0.570, p<0.001), in preeclamptic group and in control group (r= -0.477, p<0.001). The regression modelling demonstrated a significant negative association between birth weight z-scores and leptin for both groups. CONCLUSION: Maternal first trimester serum leptin demonstrates a significant negative association with neonatal weight in preeclamptic pregnancies and to a lesser extent in normotensive pregnancies. A possible leptin's involvement in pathophysiological adaptations that define the foetal growth potential can be supported.

Relation between first trimester maternal serum leptin levels and body mass index in normotensive and pre-eclamptic pregnancies--role of leptin as a marker of pre-eclampsia: a prospective case-control study.

OBJECTIVE: We measured first trimester plasma leptin concentrations in 37 women who subsequently developed pre-eclampsia and 53 normotensive controls to determine the interrelation between leptin and body mass index (BMI) in both groups. We further investigated the association between the risks for pre-eclampsia with maternal leptin levels. METHODS: Bloods samples were collected at 13 weeks. Non-parametric tests, Spearman's correlation, linear regression analysis and multiple logistic regression analysis were applied in our data. RESULTS: 1 kg/m(2) increase in pre-pregnancy BMI was related to a 2.747 (95% CI: 3.242-2.252) ng/ml rise in leptin concentration among cases and 2.502 (95% CI: 2.873-2.131) ng/ml rise in leptin concentrations among controls. Increased leptin concentration (>or=25.3 ng/ml ) in lean women is associated with a 18.8-fold increased risk of pre-eclampsia (adjusted OR: 18.8, CI: 1.8-194, p = 0.014 ). Leptin treated as a continuous variable is a significant predictor of pre-eclampsia (adjusted OR: 1.08, CI: 1.018-1.133, p = 0.009). CONCLUSION: Increased leptin concentration can definitely contribute to the prediction of pre-eclampsia in lean women, but this is not the case in overweight women. Further research in terms of longitudinal case-control studies is required to clarify the predictive value of pre-eclampsia.

Late-presenting developmental dysplasia of the hip treated with the modified Hoffmann-Daimler functional method.

BACKGROUND: The general consensus is that nonoperative treatment of developmental dysplasia of the hip should not be attempted for patients in whom previous treatment of the disease has failed, those in whom the disease was neglected, or those in whom the disease presented late. In such cases, it is believed that the optimum period for hip remodeling has passed and that operative methods are preferable. The purpose of the present study was to report the efficacy of a modified form of the Hoffmann-Daimler method for the treatment of late-presenting developmental dysplasia of the hip. MATERIALS: We retrospectively reviewed the records of sixty-nine patients (ninety-five hips) with neglected developmental dysplasia of the hip who had been managed nonoperatively with a modification of the Hoffmann-Daimler method from 1971 to 2000. With this method, the patient wears a flexion harness (Phase A), during which time the femoral head is gradually reduced, followed by an abduction splint (Phase B), during which time the reduced hip remodels. We have modified the original method by introducing new treatment strategies. The study group included nine boys and sixty girls. The average age of the patients was sixteen months (range, six to forty-four months) at the start of treatment and 11.5 years (range, six to twenty-nine years) at the time of the latest follow-up. Radiographs were assessed to determine the acetabular index, the Severin classification, and the presence of evidence of osteonecrosis of the proximal femoral epiphysis. Hips that were rated as Severin class I or class II were classified as satisfactory, whereas those that were rated as Severin class III or class IV were classified as unsatisfactory. RESULTS: On the basis of the most recent follow-up radiographs, eighty-eight (93%) of the dislocated hips were classified as satisfactory (sixty-seven were rated as Severin class I and twenty-one were rated as Severin class II) and seven were classified as unsatisfactory (six were rated as Severin class III and one was rated as Severin class IV). No hip was rated as Severin class V or VI. The average acetabular index was 40 degrees +/- 7.4 degrees prior to the onset of treatment and 24 degrees +/- 5.7 degrees at the end of treatment. No redislocations or other complications were noted. Osteonecrosis was noted in six of the ninety-five hips. CONCLUSIONS: Late-presenting or neglected developmental dysplasia of the hip can be successfully treated with use of a modified Hoffmann-Daimler method. The high rate of successful reduction, the low prevalence of osteonecrosis and residual dysplasia, and the limited complications may make this modified method a safe alternative to surgical treatment. LEVEL OF EVIDENCE: Therapeutic Level IV.

A comparison of the dietary and total intake of micronutrients in a group of pregnant Greek women with the Dietary Reference Intakes.

OBJECTIVE: We compared the dietary and total (diet and supplement) intake of micronutrients with the Dietary Reference Intakes (DRIs) from the USA in a population of pregnant Greek women. METHODS: Two hundred pregnant women participated in a nutritional survey, 98 in the second trimester and 102 in the third trimester in a random sampling. To examine dietary intake we used two questionnaires, the nutritional questionnaire for pregnant women from the California Department of Health Services, and a semi-quantitative questionnaire (Walter Willet) with modifications for use in Greece. Dietary intake analysis was performed using the Diet Analysis Plus software, Version 3, ESHA Research. Statistical analysis was performed with Minitab for Windows, Release 12. A simple complementary questionnaire concerning demographic and socio-economic features was also completed. RESULTS: The average total intake of vitamins A, B(1), B(2), B(3), B(6), B(12) and C, calcium and phosphorus was higher than the respective DRIs. Folic acid and iron intake exceed the highest values specified for pregnancy. Vitamin E and zinc was lower than the DRIs, while vitamin D, magnesium and thiamin did not differ. CONCLUSIONS: The results of our study suggest that in a Greek population, sufficient micronutrients appear to be received in adequate amount from diet, except for folic acid and iron, which also had to be taken in the form of nutritional supplements.