Evaluation of the Universal Screening Strategy in Qatar for the Management of Pregnant Women Carrying Group B Streptococci

Group B Streptococcus infection (GBS) has emerged as a serious disease, infecting 18,000 people in the United States annually including life-threatening illness in about 8,000 newly-born infants. To evaluate the efficiency of the current universal screening strategy for the management of GBS carriers a retrospective analysis was made of the records of 1,620 pregnant women in Qatar, 550 of whom were found to be carriers. These latter were then used as a group to be compared with 450 uninfected pregnant women in terms of nationality, parity, age, treatment, and outcome. Young and nullipara pregnant women had a high incidence of GBS but there was no significant effect on birth mortality and morbidity regardless of whether or not they received treatment with antibiotics. It is suggested that the cost of screening for GBS at the 35 th week of gestation cannot be justified.qscienc

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Segmental duplications, which comprise ∼5%–10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to be hot spots in chromosome evolution and human genomic instability. We report seven individuals with microdeletions at 17q23.1q23.2, identified by microarray-based comparative genomic hybridization (aCGH). Six of the seven deletions are ∼2.2 Mb in size and flanked by large segmental duplications of >98% sequence identity and in the same orientation. One of the deletions is ∼2.8 Mb in size and is flanked on the distal side by a segmental duplication, whereas the proximal breakpoint falls between segmental duplications. These characteristics suggest that NAHR mediated six out of seven of these rearrangements. These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities. Although all individuals had at least mild dysmorphic facial features, there was no characteristic constellation of features that would elicit clinical suspicion of a specific disorder. The identification of common clinical features suggests that microdeletions at 17q23.1q23.2 constitute a novel syndrome. Furthermore, the inclusion in the minimal deletion region of TBX2 and TBX4, transcription factors belonging to a family of genes implicated in a variety of developmental pathways including those of heart and limb, suggests that these genes may play an important role in the phenotype of this emerging syndrome