Confined placental chimerism: Prenatal and postnatal cytogenetic and molecular analysis, and pregnancy outcome

摘要: The presence of two cell lines in chorionic villi sampling (CVS) represents a significant complication CVS analysis, interpretation, and counseling. We report on the cytogenetic molecular analysis pregnancy that was conceived clomiphene citrate. Two (46,XX 47,XY,+9) were discovered done for maternal age; 94% cells culture 46,XX 6% 47,XY, +9 (the direct preparation 46,XX). As neither line could have derived from other, chimerism not mosaicism suspected, with 47,XY,+9 deriving co-twin whose demise result autosomal trisomy. At subsequent amniocentesis, only normal female observed infant delivered at term. Cytogenetic infant's peripheral blood sample an umbilical vessel showed cells, while amnion fibrotic area placenta contained 2 lines, 47,XY,+9. Molecular 3 different tissues by polymerase chain reaction (PCR) Southern blotting, using Y specific primers probes, respectively. DNA detected amnion, but vessel. These data excluded true fetal level about 1 10(5) defined first time probable confined placental (CPC), most likely "vanishing twin." Whenever are found CVS, especially setting pharmacologically stimulated ovulation, possibility CPC should be considered. effects function outcome merit further study.