First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free ß-hCG and PAPP-A: a 5-year prospective study.

OBJECTIVE: To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free ß-human chorionic gonadotropin (fß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at a one-stop clinic for assessment of risk (OSCAR). METHODS: In total, 13,706 fetuses in 13,437 pregnancies were screened for chromosomal abnormalities during a period of 5 years. Maternal serum biochemical markers and maternal age were evaluated in combination with NT, NT + NB, NT + NB + TR, and NT + NB + TR + DV flow data in 8581, 242, 236 and 4647 fetuses, respectively. RESULTS: In total, 51 chromosomal abnormalities were identified in the study population, including 33 cases of trisomy 21, eight of trisomy 18, six of sex chromosome abnormality, one of triploidy and three of other unbalanced abnormalities. The detection rate and false-positive rate (FPR) for trisomy 21 were 93.8% and 4.84%, respectively, using biochemical markers and NT, and 100% and 3.4%, respectively, using biochemical markers, NT, NB, TR and DV flow. CONCLUSION: While risk assessment using combined biochemical markers and NT measurement has an acceptable screening performance, it can be improved by the integrated evaluation of secondary ultrasound markers of NB, TR and DV flow. This enhanced approach would decrease the FPR from 4.8 % to 3.4 %, leading to a lower number of unnecessary invasive diagnostic tests and subsequent complications, while maintaining the maximum level of detection rate. Pre- and post-test genetic counseling is of paramount importance in either approach.

[Retinal vein occlusion and hyperhomocysteinemia]. / Occlusions veineuses rétiniennes et hyperhomocystéinémie.

INTRODUCTION: Previous studies have reported that an elevated plasma homocysteine level is a risk factor for vascular disease. The aim of this study is to determine whether hyperhomocysteinemia is a risk factor for retinal vein occlusion (RVO) and whether it is a prognostic factor. PATIENTS AND METHODS: The plasma homocysteine level was measured in 101 patients and compared to the plasma homocysteine level of controls. The relation between plasma homocysteine level and the other known risk factors of retinal vein occlusion was studied, as well as the correlation between the clinical outcome of the RVO and the plasma homocysteine level. RESULTS: The mean plasma homocysteine level was significantly higher in the 101 RVO patients than in the 29 controls (11.9 mmol/l vs 8.6, p<0.001). We found no relation between plasma homocysteine and other risk factors of vascular disease except for the hematocrit level. Hyperhomocysteinemia was more frequent in the ischemic forms and in bilateral RVO, but the difference was not statistically significant. CONCLUSIONS: Hyperhomocysteinemia seems to be an independent risk factor for RVO and was more frequent in severe RVO, but our study did not evidence an association with a severe prognosis. Vitamin therapy can decrease homocysteinemia but its efficacy in the prevention and in the treatment of RVO remains to be demonstrated.

Antiphospholipid antibodies in retinal vascular occlusions. A prospective study of 75 patients.

OBJECTIVE: To assess the prevalence of antiphospholipid antibodies in patients with occlusive retinal vascular disorders. PATIENTS: Seventy-five consecutive patients (44 with central retinal vein occlusions, 24 with branch venous occlusions, five with vasculitis plus branch venous occlusion, and two with arterial occlusions) were screened for antiphospholipid antibodies and compared with a control group composed of outpatients with similar systemic vascular disorders. RESULTS: The antibody assay for one patient was positive for lupus anticoagulant and the antibody assay for three other patients was positive for anticardiolipin antibodies. These four patients had central or branch retinal vein occlusion and presented with several vascular risk factors. Comparison of the retinal vascular occlusion and the control groups showed no difference in the levels of anticardiolipin antibodies or lupus anticoagulant. CONCLUSIONS: Antiphospholipid antibodies did not seem to be a feature of retinal vein occlusion, but in rare cases (5%) they may contribute to the occlusive phenomenon. A systematic screening does not seem to be justified, but it may be valuable to test for antiphospholipid antibodies in patients without conventional risk factors and in patients with clotting screen abnormalities, particularly if associated with lupus-like syndrome or other elements of the primary antiphospholipid syndrome.

A case of peroxidase-positive acute leukaemia expressing only T lineage lymphoid markers.

We report the clinical presentation and the morphological, immunophenotypic, cytogenetic and molecular genetic characteristics of a 14 1/2-year-old boy who had French-American-British (FAB) type M1 acute non-lymphocytic (ANLL) leukaemia with a common T-ALL immunological phenotype, with no myeloid associated antigen, either on the membrane or in the cytoplasm. ALL-directed induction therapy induced complete remission.

The prevalence of autoantibodies during third-trimester pregnancy complicated by hypertension or idiopathic fetal growth retardation.

Lupus anticoagulant, anticardiolipin, antinuclear, anti-deoxyribonucleic acid, antithyroglobulin, and antithyroid microsomal antibodies were assayed during third-trimester pregnancy (100 normal, 100 with complications). In spite of a normal activated partial thromboplastin time in all instances, lupus anticoagulant was further investigated by three additional procedures: tissue thromboplastin inhibition time, platelet neutralization procedure, and cephalin neutralization test. The prevalence of autoantibodies in pregnancies with hypertension reaches 16% (four with lupus anticoagulant, two with anticardiolipin, and two with antithyroid microsomal antibodies), which is significantly greater than that for idiopathic fetal growth retardation (2%) (one with lupus anticoagulant antibodies) and normal pregnancies (3%) (two with antithyroglobulin and one with autithyroid microsomal antibodies) (p less than 0.01). Autoantibodies were equally distributed between patients with gestational hypertension and those with preeclampsia. When compared with the 42 patients with hypertension and no autoantibodies, the eight patients with autoantibody had a more frequent history of fetal growth retardation (p less than 0.05), but there was no difference in the severity of hypertension, the frequency of obstetric complications, or the outcome of pregnancy. They did not require any specific treatment.