Genetic variations in fetal and maternal tumor necrosis factor-α and interleukin 10: is there an association with preterm birth or periventricular leucomalacia?

OBJECTIVE: The aim of the study was to identify whether tumor necrosis factor-α (TNF-α) (-308) and interleukin (IL)-10 (-1082; -819) genotypes were associated with preterm delivery and cystic periventricular leucomalacia (PVL). STUDY DESIGN: Venous blood, buccal swabs or cord blood were collected from mother/child pairs with infants born at term (200) or preterm (106) in the presence and absence of neonatal PVL and of premature infants with PVL (7). Extracted genomic DNA served as template for determination of IL-10 (-1082), IL-10 (-819) and TNF-α (-308) genotypes by allele-specific PCR. RESULT: No significant difference was observed in the frequencies of IL-10 (-1082), IL-10 (-819) and TNF-α (-308) genotypes in mothers or in children of term versus preterm deliveries with or without PVL. CONCLUSION: Maternal and infant IL-10 (-1082, -819) and TNF-α (-308) genotypes are not indicative for an increased risk of preterm birth or the development of PVL in premature newborns.

SRY-specific cell free fetal DNA in maternal plasma in twin pregnancies throughout gestation.

OBJECTIVES: Levels of SRY-specific cell free fetal DNA (SRY-cffDNA) in maternal plasma were investigated in twin pregnancies with two male fetuses versus one male and one female fetus and singleton male pregnancies during second and third trimester. The aim was to evaluate at which gestational age the amount of SRY-cffDNA reflects the number of fetuses and placentas respectively. METHODS: 251 venous blood samples were analyzed from a total of 178 women with male or mixed-gender twin pregnancies and male singleton pregnancies in the second and the third trimester. The concentration of SRY-cffDNA was determined by quantitative real time PCR using the Y-chromosome specific SRY assay. For statistical analysis these three groups were divided into four subgroups according to their gestational age. RESULTS: During second trimester levels of SRY-cffDNA showed no differences between twin and singleton pregnancies. After 28 weeks SRY-cffDNA of male twin pregnancies was significantly increased compared to singleton male pregnancies and mixed-gender twin pregnancies with no differences between the latter two. CONCLUSION: The level of SRY-cffDNA in maternal serum of twin pregnancies reflects the number of fetuses only during the third trimester. Hence its use as a diagnostic tool for complications related to altered SRY-cffDNA levels in twin pregnancies should be evaluated at different weeks of gestation, especially during the second trimester.