Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Impact of obesity on incision-to-delivery interval and neonatal outcomes at cesarean delivery

OBJECTIVE: To test the hypothesis that increasing body mass index (BMI) is associated with increased time from skin incision to infant delivery and increased neonatal morbidity at cesarean. STUDY DESIGN: We performed a retrospective cohort study of all cesarean deliveries occurring at one institution from 2004-2008. Four comparison groups were defined by body mass index (BMI) <30 kg/cm2 (n=668), 30-39.9 (n=1002), 40-49.9 (n=403), or ≥50 (n=193). The primary outcome was time from skin incision to infant delivery. Secondary outcomes were a composite measure of neonatal morbidity and its individual components: 5-minute Apgar score less than 7, umbilical cord arterial pH <7.10 and <7.20, umbilical cord arterial base excess <-8 (mmol/L), Special Care Nursery (SCN) admission, and NICU admission. RESULTS: Increasing BMI was associated with significantly increased time from skin incision to infant delivery, demonstrating a dose response pattern. Minutes from skin incision to delivery of the infant by BMI strata were; 9.4 ± 5.9 for BMI <30, 11.0 ± 6.8 for BMI 30-39.9, 13.0 ± 8.0 for BMI 40-49.9, and 16.0 ± 11.3 for BMI ≥50 (p < 0.01). Composite neonatal morbidity was significantly higher with increasing BMI; 23.0% for BMI <30, 25% for BMI 30-39.9, 29.8% for BMI 40-49.9, and 32.1% for BMI ≥ 50 (p=0.02). CONCLUSION: Increasing BMI is associated with a significantly increased time from skin incision to infant delivery and neonatal morbidity. Cesarean technique remains to be optimized for obese women

The role of ultrasound in the diagnosis of fetal genetic syndromes

The use of ultrasound in the prenatal diagnosis of fetal genetic syndromes is rapidly evolving. Advancing technology and new research findings are aiding in the increased accuracy of ultrasound-based diagnosis in combination with other methods of non-invasive and invasive fetal testing. Ultrasound as a screening tool for aneuploidy and other anomalies is increasingly being used throughout pregnancy, beginning in the first trimester. Given the number of recorded syndromes, it is important to identify patterns and establish a strategy for identifying abnormalities on ultrasound. These syndromes encompass a wide range of causes from viral, substance-linked, chromosomal, and other genetic syndromes. Despite the ability of those experienced in ultrasound, it is important to note that not all fetal genetic syndromes can be identified prenatally, and even common syndromes often have no associated ultrasound findings. Here, we review the role of ultrasound in the diagnosis of fetal genetic syndromes