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OBJECTIVE: We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome. METHOD: By means of a questionnaire, data on 269.371 analyses performed from 1983 to 2006 on amniotic fluid, chorionic villus and fetal blood samples were collected. RESULTS: A total of 246 balanced anomalies were detected at frequencies of 72% for reciprocal translocations, 18% for Robertsonian translocations, 7% for inversions and 3% for complex chromosome rearrangements. The total frequencies of balanced rearrangements were 0.09%, 0.08% and 0.05% on amniotic fluid, chorionic villus and fetal blood samples. CONCLUSION: A preferential involvement of chromosomes 22, 7, 21, 3, 9 and 11 and a less involvement of chromosomes X, 19, 12, 6 and 1 was observed. A nonrandom distribution of the breakpoints across chromosomes was noticed. Association in the location of recurrent breakpoints and fragile sites was observed for chromosomes 11, 7, 10 and 22, while it was not recorded for chromosome 3. The rate of pregnancy termination was about 20%, with frequencies decreasing from complex chromosomal rearrangements (33%), reciprocal translocations (24%) to inversions (11%) and Robertsonian translocations (3%).

Changes in systolic and diastolic blood pressure, heart rate, arterial blood flow and vascular resistance in the arm and in the leg were investigated in 9 healthy volunteers (22-40 years) after oral dosing with bisoprolol 10 mg, propranolol 40 mg, and placebo in a randomized double-blind cross-over study. Arterial blood flow and vascular resistance were determined in brachial and femoral arteries with unimpeded circulation, after exclusion of the hand or foot by placing a tourniquet on the wrist or ankle, and during post-ischaemic hyperaemia. Distal arterial occlusion allows one to isolate a predominantly muscular circulation in the forearm or, to a lesser extent, in the leg. Both active drugs induced a significant fall in heart rate and systolic blood pressure versus placebo with no significant difference between the drugs. Brachial and femoral flow rates were reduced by both drugs probably due to a fall in cardiac output, but the two beta blockers produced different effects on vascular resistance: propranolol significantly increased brachial vascular resistance compared with placebo and bisoprolol, both during unimpeded circulation and during occlusion of the hand by a wrist tourniquet. Bisoprolol had no influence on brachial vascular resistance. Both drugs induced small increases in femoral vascular resistance. The different action on local vascular resistance in the brachial artery territory could be interpreted as the expression of the high beta 1 selectivity of bisoprolol leaving the vascular beta 2 receptors unopposed, whereas non-selective propranolol acts on both beta-adrenoceptor subtypes.

The Doppler ultrasound method for recording blood flow velocity waveforms in the fetal umbilical arteries is now widely used as an indicator of fetal well-being. This study was conducted to investigate the impact of umbilical placental resistance level on fetal growth development.Maximal flow velocity waveforms were recorded from the umbilical artery in 108 pregnant women including 50 with normal pregnancies, 3 with previous death in utero, and 55 with moderate arterial hypertension corrected by resting only. All the newborn infants had a normal birth weight (BW between the 10th and the 90th percentile for the gestational age at birth). Doppler measurements were performed between 25 to 38 weeks of gestation. The placental resistance index (PRI) derived from blood flow velocity measurements was determined.Data were grouped in two-week intervals according to the age of gestation at Doppler examination. We found an inverse close relationship between BW and PRI which can be described by a linear function of PRI in each interval. BW increased with the decrease in PRI.Our findings suggest that umbilical placental resistance level determines fetal growth development and birth weight during pregnancies without placental insufficiency.

Vascular reactivity to heat and cold was studied in 11 normal subjects without vascular disease and in 23 patients with Raynaud's phenomenon (etiologies: Raynaud's disease, scleroderma, thoracic outlet syndrome). The study of hand and digital temperatures and brachial artery blood flow was performed in ambiant conditions (room temperature 23.5 +/- 1 degree C) and after thermal (cold or warm exposure: 10, 33 and 40 degrees C), mechanical and metabolic modifications (with a wrist tourniquet). In these conditions, blood flow was studied at each temperature, before, during and after 3 minutes ischemia of the hand. Analysis of results showed that vasomotricity possibilities were preserved but that responses were not identical. Patients with primary Raynaud's phenomenon, and even more those with scleroderma as well, had reduced brachial artery blood flow after cooling (10 degrees C). After ischemia, maximal blood flow was also reduced. The microcirculatory disease existing in Raynaud's phenomenon limits the vasodilator capacity of hand vessels, but probably more in tissues with vascular lesions. Vasodilation seems to be limited during exposure to low well as high temperatures, but vasoconstriction capacity is not disturbed.

Objectives The risk of uniparental disomy (UPD) occurrence associated with the prenatal finding of balanced nonhomologous Robertsonian translocations (NHRTs) has been estimated only on limited empirical data. The aim of the study was to verify the estimate of the general risk, to get narrower confidence intervals by cumulating the data and to obtain risk estimates for specific translocation types. Methods We tested for UPD 160 prenatal specimens referred to the participant centers after the cytogenetic finding of NHRT. Results One case of upd(14)mat was found, associated with a 45,XX,der(14;22)mat fetal karyotype. The general empirical risk of UPD occurrence in NHRT carrier fetuses, corrected for the actual number of chromosomes analyzed, was 0.76% (95% CI 0.02–4.25%). Cumulative data with previous studies gives a general risk of UPD associated with NHRT of 0.80% (95% CI 0.17–2.34%). The UPD risk for the specific NHRT der(13;14) did not significantly differ from that of the other NHRTs taken together. Conclusion The present survey confirms the previously estimated risk of occurrence of UPD in offspring of NHRT carriers as a low, but not negligible risk, worth being investigated in prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.