Embryo-fetal erythroid cell selection from celomic fluid allows earlier antenatal diagnosis of hemoglobinopathies

Abstract

Objective

Celocentesis, which involves aspiration of celomic fluid at 7-9 weeks' gestation, can potentially provide early prenatal diagnosis of single genes disorders. The main barrier to wide acceptability of this technique is contamination of the sample by maternal cells. This problem can be overcome through selection of embryo-fetal erythroid precursors which are found in celomatic fluid.

Method

Embryo-fetal erythroid precursors were selected by an anti-CD71 MicroBeads method or by direct micromanipulator pick up of the cells selected on the basis of their morphology.

Results

In our series of 302 singleton pregnancies at high-risk for hemoglobinopathies, celocentesis provided a sample of celomic fluid in all cases. In 100 (33.1%) samples maternal contamination was absent or very low (<5%) and unambiguous results were obtained without the need for any preliminary procedures. In 160 (53%) cases the contamination was between 5% and 60% and selection of embryo-fetal erythroid precursors was successfully achieved by anti-CD71 MicroBeads. In 42 (13.9%) cases the contamination was >60% and selection of embryo-fetal cells was achieved by micromanipulation. In all 302 cases there was concordance between DNA obtained from celomatic fluid samples and fetal or newborn DNA.

Conclusions

Celocentesis can be a reliable procedure for earlier prenatal diagnosis of fetal monogenic diseases. This article is protected by copyright. All rights reserved.

from #Medicine via ola Kala on Inoreader http://ift.tt/1UavMqM
via IFTTT