Blood smears and prenatal diagnosis

Forestier, F.; Hohlfeld, P.; Vial, Yvan; Olin, Valérie; Andreux, J.‐P.; Tissot, Jean‐Daniel

doi:10.1046/j.1365-2141.1996.d01-1895.x

Cited by 14 publications

(4 citation statements)

References 7 publications

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“…junction with the examination of white cell morphology. The presence of vacuolated lymphocytes (19) or Alder granulation of neutrophils ( Figures 10 and 11) is well established at this age in the fetus affected by the disorders in which these abnormalities occur (see Table 7, and (27,41)). The light microscopical assessment of white blood cell morphology will assist in the choice of the appropriate biochemical assay on what are necessarily limited amounts of cells or plasma.…”

Section: Fetal Hydrops As a Presenting Symptom Of A Lysosomal Storagementioning

confidence: 85%

Prenatal Diagnosis of Lysosomal Storage Diseases

1998

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The prenatal diagnosis of lysosomal storage disorders can be achieved, once the diagnosis is confirmed in the index case, by a variety of techniques including analysis of amniotic fluid, asay of enzymic activity in cultured amniotic fluid cells, cultured chorionic villus cells and by direct assay of activity in chorionic villus samples. These studies can be accompanied by ultrastructural observations which give an independent means of diagnosis. In some instances molecular genetic studies for mutation detection or linkage analysis are appropriate for prenatal diagnosis. Pseudodeficiencies of some of the lysosomal enzymes, which cause no clinical problems, can complicate the initial diagnosis particularly in metachromatic leucodystrophy where the pseudodeficiency is more common than the disease itself. Mutation analysis as well as enzyme assay is necessary not only in the index case but also in the parents before the same techniques are applied to a sample for prenatal diagnosis. A large number of lysosomal storage disorders may present as fetal hydrops and the diagnosis can be established at this late stage by fetal blood sampling and examination by microscopy as well as by biochemical assay of the appropriate enzyme or metabolite in amniotic fluid. All prenatal diagnoses in which an affected fetus is indicated should have confirmation of the diagnosis as soon as possible to reassure anxious parents, and to act as audit of the laboratory's competence to undertake prenatal diagnosis. A combined approach to prenatal diagnosis involving bio‐chemical, molecular genetic and morphological studies is recommended.

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Section: Fetal Hydrops As a Presenting Symptom Of A Lysosomal Storagementioning

confidence: 85%

Prenatal Diagnosis of Lysosomal Storage Diseases

1998

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“…Eleven samples were excluded either because all red blood cells were used to perform an elution (7 cases), or because one of the two techniques was not applied (4 cases). Eighty–seven samples had been collected from newborns and 23 had been obtained by cordocentesis from fetuses, as previously described [4]. The remaining samples were from adults.…”

Section: Methodsmentioning

confidence: 99%

The Direct Antiglobulin Test: Still a Place for the Tube Technique?

et al. 1999

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Objectives: Antibodies of different immunoglobulin isotypes, or complement, may coat red blood cells in vivo. They are detected by the direct antiglobulin test (DAT), usually performed by the conventional tube technique. The purpose of this study was to compare the latter technique with the gel test. Methods: Three hundred and ninety–eight consecutive samples, sent to our laboratory for direct antiglobulin testing, were analyzed with the tube technique and the gel test, using reagents from different manufacturers. Eighty–seven samples had been collected from newborns and 23 from fetuses. Results were expressed as positive or negative. Results: In 162 out of 398 cases, the DAT was negative with both methods, whereas in 178 out of 398 cases, the DAT was positive with both techniques using polyspecific antibodies (observed agreement: 84.5%; κ = 0.71). Discrepancies between the two methods were observed in 58 cases: 51 samples appeared as DAT positive using the tube method and negative with the gel test, whereas only 7 were positive exclusively with the gel test. Among the 178 samples that were positive with both techniques, 93 samples showed discordant results when evaluated with monospecific antisera (11 with anti–IgG and 82 with anti–C3d, respectively). The sensitivity of the DAT performed by the gel test, in comparison with the conventional tube technique, was 75.4% (95% confidence interval (CI): 69.4–80.8). 96.8% (95% CI: 92.8–99.0), and 16.3% (95% CI: 9.8–24.9) with polyspecific, anti–IgG and anti–Cd3 reagents, respectively. Conclusions: The gel test appeared to be less sensitive than the conventional tube technique when utilized for DAT, praticularly when C3d was present on red blood cells. These results emphasize that before implementing a new technique in the laboratory, comparison with existing techniques, using different reagents, is mandatory.

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“…A blood count and film can be useful not only when a haematological disorder is suspected, but when a fetus is being investigated because of dysmorphic features detected on ultrasound examination [16]. A blood count and film can be useful not only when a haematological disorder is suspected, but when a fetus is being investigated because of dysmorphic features detected on ultrasound examination [16].…”

Section: Fetal Blood Samplingmentioning

confidence: 99%

Blood Sampling and Blood Film Preparation and Examination

Bain

2014

Blood Cells

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Blood smears and prenatal diagnosis

Cited by 14 publications

References 7 publications

Prenatal Diagnosis of Lysosomal Storage Diseases

Prenatal Diagnosis of Lysosomal Storage Diseases

The Direct Antiglobulin Test: Still a Place for the Tube Technique?

Blood Sampling and Blood Film Preparation and Examination

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