Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid

Objective: to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. Methods: retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study group if one of the following conditions were present: infections, fetal abnormalities, family history for congenital deafness, diagnosis of chromosomal abnormalities, and consanguinity between parents. Results: a total of 12.472 Caucasian women gave informed consent for this test. Seventy-seven cases were excluded. From the 12.395 amniotic fluid analysis remained, the following was found: 2 cases of 35delG homozygosis and 352 cases of heterozygous carriers (42 M34T mutation, 298 35delG mutation, 12 double heterozygosis M34T/35delG). The follow up in first year of life in the 42 newborns with heterozygosis for M34T mutation showed a mild deafness in 23 cases. Conclusions: in our series, presence of heterozygosis M34T mutation is associated in more than 50% of cases to mild congenital deafness

Effect of vaginally administered DHAfatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial

Objectives: to verify whether vaginally intake of docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid, would improve length of gestation and newborn birth weight in high risk pregnancies for preterm delivery. Methods: this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 eligible women, 31 refused to participate and 34 were enrolled and randomized with equal chance of selection, 22 were assigned to treatment Group and 21 were assigned to the control group, and received placebo. One gram of DHA was administered vaginally once a day starting from 21 (1 week of gestation until 37 weeks + 0 day). The primary endpoint was to determine the length of the pregnancy and secondary endpoint the newborn weight. Results: gestational age at delivery was 38.6 (SD, 1.05) weeks in the docosahexaenoic acid group and 37.6 (SD, 0.84) weeks in the placebo group (P =0.007). For women who completed the treatment and delivered at term there was a statistically difference of the weights in the two groups [3082.1 (SD, 293) gr cases vs 2699.3 (SD, 150) gr controls P <0.0001]. Conclusion: in high risk patients for preterm delivery, the vaginal administration of a DHA increases length of gestation and newborn birth weight