Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.

Prenatal and neonatal Group B Streptococcus screening and serotyping in Lebanon: incidence and implications.

The study aimed at determining the prevalence, risk factors, perinatal transmission, and serotypes of Group B Streptococcus (GBS) among pregnant women and their newborns in Beirut, Lebanon. This was a cross-sectional study of all pregnant women admitted from February to September 2006 to three major hospitals. Overall, 137 of 775 (17.7%) mothers and 50 of 682 newborns (7.3%) tested positive for GBS. Maternal colonization was not associated with maternal age, household income, gravidity, intrapartum fever, preterm labor, or premature rupture of membrane. Transmission rate was 40/120 (30%). Serotype 5 (24.1%) was the most common followed by serotype 1a (15.0%), 3 (14.4%), 2 (11.8%) and 1b (7.5%). Pregnant women in Lebanon appear to have a relatively high prevalence of GBS colonization with no identifiable risk factors for its acquisition. These results could provide basis for the institution of a national policy for universal maternal GBS screening to reduce neonatal morbidity and mortality.

Effect of pregnancy on the speaking voice.

The study aims to investigate the vocal symptoms and acoustic changes in pregnant women pre- and postpartum in comparison to the controls. A total of 25 pregnant women who presented for delivery were enrolled in this study. Twenty-one nonpregnant women were matched as controls. Vocal symptoms such as hoarseness, vocal fatigue, and aphonia were assessed. Acoustic analysis included fundamental frequency (F(0)), habitual pitch, relative average perturbation (RAP), shimmer, noise-to-harmony ratio (NHR), and maximum phonation time (MPT). There were no significant differences in the incidence of vocal symptoms in pregnant women versus controls. However, vocal fatigue was more prevalent in the pregnant group. With respect to the acoustic parameters, there was a significant decrease in the MPT at term. The rest of the variables were comparable. Postpartum, the MPT significantly increased and there was an increase in F(0) and a significant decrease in the voice turbulence index (VTI). Pregnant women have more vocal fatigue and a reduction in MPT compared to the controls. Immediately after delivery, there is a significant increase in MPT.

Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.

An imprinting disorder has been believed to underlie the etiology of familial biparental hydatidiform moles (HMs) based on the abnormal methylation or expression of imprinted genes in molar tissues. However, the extent of the epigenetic defect in these tissues and the developmental stage at which the disorder begins have been poorly defined. In this study, we assessed the extent of abnormal DNA methylation in two HMs caused by mutations in the recently identified 19q13.4 gene, NALP7. We demonstrate normal postzygotic DNA methylation patterns at major repetitive and long interspersed nuclear elements (LINEs), genes on the inactive X-chromosome, three-cancer related genes, and CpG rich regions surrounding the PEG3 differentially methylated region (DMR). Our data provide a comprehensive assessment of DNA methylation in familial molar tissues and indicate that abnormal DNA methylation in these tissues is restricted to imprinted DMRs. The known role of NALP7 in apoptosis and inflammation pinpoints previously unrecognized pathways that could directly or indirectly underlie the abnormal methylation of imprinted genes in molar tissues.