High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report

Abstract

Abnormal amniotic fluid volume can be associated with increased maternal risk as well as perinatal morbidity and mortality. Polyhydramnios is often indicative of fetal, placental or maternal problems. In a large proportion of patients the aetiology of the disorder is unclear. Here we report on a case in which numerous fetal erythroblasts and large quantities of extracellular fetal DNA were found in the peripheral blood of a pregnant woman with idiopathic polyhydramnios bearing a male fetus. Following enrichment of erythroblasts by magnetic separation (MACS) and anti‐CD71 antibodies, approximately 45‐fold more erythroblasts were determined per ml peripheral maternal blood than in matched controls (231 versus 5). Single cell multiplex polymerase chain reaction (PCR) of individually micromanipulated erythroblasts showed that approximately 122 of these were of fetal origin. The concentration of extracellular fetal circulatory DNA in maternal plasma was determined by real‐time quantitative PCR and shown to be almost double that of the control group (749.2 versus 404 fetal genome equivalents per ml maternal plasma). It can be speculated that the increased intrauterine pressure in polyhydramnios leads to an enhanced influx of fetal cells and free extracellular fetal DNA into the maternal circulation. This hypothesis will have to be tested with further cases. Copyright © 2000 John Wiley & Sons, Ltd.

Prenatal diagnosis of 21 trisomy by quantification of methylated fetal DNA in maternal blood: study on 10 pregnancies

“…Increased concentration of fetal DNA was identified in different obstetrical conditions (preeclampsia, preterm delivery, fetal-maternal hemorrhage, polyhydramnios etc.) but also in trisomy 21 (13)(14)(15)(16)(17).…”

Circulating Fetal DNA in Maternal Plasma Is Increased in Pregnancies at High Altitude and Is Further Enhanced by Preeclampsia

“…Previous studies have indicated that circulating fetal DNA concentrations in maternal plasma are increased in pregnancies affected by preeclampsia (6,7 ), fetal growth restriction (8 ), or preterm labor (9 ); pregnancies with aneuploid fetuses (10,11 ); and pregnancies affected by other pregnancy-related disorders involving an underlying placental pathology (12,13 ). This has led to the suggestion that abnormalities in placentation may be associated with increased liberation of fetal DNA into the maternal circulation (14,15 ).…”

Microsystem for Isolation of Fetal DNA from Maternal Plasma by Preparative Size Separation

“…Fetal rhesus D genotyping from maternal plasma (10 ) is a routinely used protocol for prenatal diagnosis in several centers. Increased fetal DNA concentrations have been observed in the blood of women with various complications of pregnancy, including preeclampsia (11)(12)(13)(14)(15)(16).…”