Congenital heart disease is present in 40-50% of individuals with Down syndrome. Although cardiovascular evaluation is a standard component of the diagnostic work-up in patients with Down syndrome, the value of routine neonatal echocardiography in this population is debated. We studied 114 neonates with Down syndrome who underwent both cardiac physical examination and echocardiography in the neonatal period to assess the accuracy of physical examination for identifying cardiovascular anomalies in this population. We retrospectively reviewed physical examination records and echocardiogram reports in 114 neonates with Down syndrome and trisomy 21. A patient was considered to have an abnormal cardiac physical examination if there was a pathologic cardiac murmur and/or cyanosis or an abnormal systemic arterial oxygen saturation. The median age at the time of physical examination was 2 days (1-30 days). Physical examination findings suggestive of cardiovascular pathology were noted in 77 patients (68%), with an abnormal cardiac murmur in 34 (30%), cyanosis and/or a pulse oximeter reading of < or = 92% in 35 (31%), and both in 7 (6%). The echocardiogram was abnormal in 75 patients (66%), with an atrioventricular septal defect in 33, tetralogy of Fallot in 13, both of these anomalies in 2, a ventricular septal defect in 17, a patent ductus arteriosus beyond 7 days of age in 7, and other anomalies in 2. The sensitivity of physical examination findings for detection of cardiovascular anomalies was 80% and the specificity was 56%. The positive predictive value of an abnormal physical examination was 78% and the negative predictive value of a normal physical examination was 59%. Fifteen patients had a normal physical examination but an abnormal echocardiogram, nine of whom eventually required surgery. Physical examination alone is not sufficient to identify cardiovascular anomalies in neonates with Down syndrome. In the newborn with Down syndrome, the potential benefits of early diagnosis, in the context of physical examination findings, should be considered in determining whether an echocardiogram should be performed in the neonatal period.
OBJECTIVE: To establish reliability and validity of real-time fluorescent PCR for early detection of bacterial invasion of the amniotic cavity. METHODS: Amniotic fluid samples from 40 patients undergoing mid-trimester genetic amniocentesis were incubated for 6 h at 37 degrees C and were cultured on media specific for group B streptococcus (GBS) and E. coli. Concurrently, samples were analyzed with real-time fluorescent PCR (Roche LightCycler) using DNA primers and probes designed to detect the CAMP factor encoding cfb gene and uidA gene of GBS and E. coli, respectively. For positive control and to simulate amniotic fluid colonization, 104 cfu/ml of GBS and E. coli were inoculated on sterile amniotic fluid and incubated for 6 h. Bacterial genomic DNA for the two organisms was extracted and purified via the two-step precipitation method using a commercial kit. The real-time PCR assays were also tested against 25 non-GBS and non-E. coli bacterial species. The lower limit of detection for each pathogen was established using serial dilution of bacterial genomic DNA. RESULTS: All patient samples were negative for evidence of GBS and E. coli with both culture and real-time PCR methods. Amniotic fluid samples inoculated with GBS and E. coli were positive with real-time PCR whereas the 25 bacterial species other than GBS or E. coli tested negative with the assay. Average total sample processing time including the pre-enrichment step was 7 h 40 min. The average cost for DNA extraction and PCR testing was 8.50 dollars per test. CONCLUSION: Real-time fluorescent PCR is a valid and reliable method for detection of specific pathogens in amniotic fluid. This technique is sensitive for low inoculation levels. Real-time fluorescent PCR has potential to impact clinical management as a rapid, reliable detection method for GBS and E. coli in chorioamnionitis.
Methotrexate is a commonly used therapy for ectopic pregnancies in the outpatient setting. Practitioners should be aware of the potential adverse reactions to methotrexate.
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