Giambona Antonino, Damiani Gianfranca, Leto Filippo, Jakil Cristina, Renda Disma, Cigna Valentina, Schillaci Giovanna, Picciotto Francesco, Nicolaides Kypros H, Passarello Cristina, Makrydimas George, Maggio Aurelio
Unit of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Palermo, Italy.
Unit of Prenatal Diagnosis, Hospital Villa Sofia Cervello, Palermo, Italy.
Prenat Diagn. 2016 Apr;36(4):375-81. doi: 10.1002/pd.4793. Epub 2016 Mar 29.
Celocentesis, which involves aspiration of celomic fluid at 7-9 weeks' gestation, can potentially provide early prenatal diagnosis of single-gene 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.
Embryo-fetal erythroid precursors were selected by an anti-CD71 MicroBeads method or by direct micromanipulator pickup of the cells selected on the basis of their morphology.
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 celomic fluid samples and fetal or newborn DNA.
Celocentesis can be a reliable procedure for earlier prenatal diagnosis of fetal monogenic diseases.
孕7 - 9周时进行体腔穿刺抽取体腔液，有可能对单基因疾病进行早期产前诊断。该技术广泛应用的主要障碍是样本被母体细胞污染。通过选择存在于体腔液中的胚胎 - 胎儿红细胞前体可以克服这一问题。
采用抗CD71微珠法或通过基于形态学选择的细胞直接显微操作挑选胚胎 - 胎儿红细胞前体。
在我们的302例单胎妊娠血红蛋白病高危病例系列中，所有病例均通过体腔穿刺获得了体腔液样本。在100例（33.1%）样本中，不存在母体污染或污染程度极低（<5%），无需任何预处理即可获得明确结果。在160例（53%）病例中，污染率在5%至60%之间，通过抗CD71微珠成功实现了胚胎 - 胎儿红细胞前体的选择。在42例（13.9%）病例中，污染率>60%，通过显微操作实现了胚胎 - 胎儿细胞的选择。在所有302例病例中，从体腔液样本获得的DNA与胎儿或新生儿DNA之间具有一致性。
体腔穿刺可成为胎儿单基因疾病早期产前诊断的可靠方法。
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