Cultures of trisomy 21 cytotrophoblasts for assessing risk of trisomy 21, without the need for fetal karyotyping comprises for identifying markers

摘要

Culturing cytotrophoblasts, (A), that are trisomic for human chromosome 21, or for a region of this that contains at least the gene encoding copper-zinc superoxide dismutase, after 3 days of culture, (A) express at least one peptide hormone (I) at below the mean level for normal placental cytotrophoblasts at the same stage of gestation and cultured under the same conditions, is new. Where (I) are human placental lactogen (hPL), human chorionic gonadotropin (hCG) alpha or beta human placental growth hormone (PGH) and/or leptin. Independent claims are also included for the following: (1) differential expression libraries of nucleic acid prepared from at least one culture of (A); and (2) determining the risk of trisomy 21 in a fetus.