Does transperineal ultrasound predict the risk of perineal trauma in women with term pregnancy? A prospective observational study.

PURPOSE: This study was conducted to evaluate the prevalence of perineal trauma during childbirth and to assess the correlations of the pelvic floor dimensions and fetal head station with obstetric trauma in a prospectively recruited cohort of women. METHODS: The study included women with a gestational age of at least 37 weeks, who were carrying a single fetus in a cephalic presentation. Transperineal ultrasound (TPU) was performed prior to the onset of labor or labor induction. The purpose was to measure the anteroposterior diameter (APD) of the levator ani muscle (LAM) and the angle of progression, at both rest and maximum Valsalva maneuver. The head-perineum distance was assessed only at rest. RESULTS: A total of 296 women were included. Of the 253 women who delivered vaginally, 19% (48/253) experienced no perineal trauma, 18.2% (46/253) received an episiotomy during childbirth, 34.4% (87/253) sustained a first-degree laceration, 25.3% (64/253) had a second-degree laceration, and 3.2% had a third- or fourth-degree laceration (8/253). Women with episiotomy had a significantly shorter median APD under Valsalva than women without perineal trauma. Furthermore, women with LAM coactivation (identified by a negative difference between the APD at Valsalva and the APD at rest) were approximately three times more likely to undergo an operative vaginal delivery and over five times more likely to sustain a third- or fourth-degree tear during childbirth than women who exhibited normal relaxation of the LAM during the Valsalva maneuver. CONCLUSION: TPU may predict the risk of perineal trauma in women with term pregnancy during childbirth.

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

BACKGROUND: Long-QT syndrome is an inherited cardiac channelopathy characterized by delayed repolarization, risk of life-threatening arrhythmia, and significant clinical variability even within families. Three single-nucleotide polymorphisms (SNPs) in the 3' untranslated region of KCNQ1 were recently suggested to be associated with suppressed gene expression and hence decreased disease severity when located on the same haplotype with a disease-causing KCNQ1 mutation. We sought to replicate this finding in a larger and a genetically more homogeneous population of KCNQ1 mutation carriers. METHODS AND RESULTS: The 3 SNPs (rs2519184, rs8234, and rs10798) were genotyped in a total of 747 KCNQ1 mutation carriers with A341V, G589D, or IVS7-2A>G mutation. The SNP haplotypes were assigned based on family trees. The SNP allele frequencies and clinical severity differed between the 3 mutation groups. The different SNP haplotypes were neither associated with heart rate-corrected QT interval duration (QTc) nor cardiac events in any of the 3 mutation groups. When the mutation groups were combined, the derived SNP haplotype of rs8234 and rs10798 located on the same haplotype with the mutation was associated with a shorter QTc interval (P<0.05) and a reduced occurrence of cardiac events (P<0.01), consistent with the previous finding. However, when the population-specific mutation was controlled for, both associations were no longer evident. CONCLUSIONS: 3' Untranslated region SNPs are not acting as genetic modifiers in a large group of LQT1 patients. The confounding effect of merging a genetically and clinically heterogeneous group of patients needs to be taken into account when studying disease modifiers.

Incidence and Estimated Prevalence of Endometriosis and Adenomyosis in Northeast Italy: A Data Linkage Study.

Despite being quite frequent and having serious implications in terms of symptomatology and fertility, data on incidence and prevalence of endometriosis and adenomyosis following gold standard definitions are dramatically lacking. The average time from onset of symptoms to diagnosis in industrialized countries still ranges from five to ten years. Using the regional centralized data linkage system, we calculated incidence and prevalence of endometriosis and adenomyosis in the female population of Friuli Venezia Giulia region, Italy, for the years 2011-2013. Cases were defined as new diagnoses from hospital discharge records, following procedures allowing direct visualization for endometriosis and hysterectomy for adenomyosis, with or without histological confirmation. Diagnoses were considered "new" after verifying women had not been diagnosed in the previous ten years. Incidence of endometriosis and adenomyosis in women aged 15-50 years is 0.14%. Prevalence, estimated from incidence, is 2.00%. Adenomyosis, representing 28% of all diagnoses, becomes increasingly prevalent after the age of 50 years. Our results shows how the study of both endometriosis and adenomyosis should not be limited to women of premenopausal age. Further efforts are needed to sensitize women and health professional, and to find new data linkage possibilities to identify undiagnosed cases.