Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.

OBJECTIVE: To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. METHODS: We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age population. Before randomization, the feasibility of both procedures was confirmed by ultrasonography, and experienced operators performed sampling under ultrasound guidance; conventional cytogenetic analysis was employed. The primary outcome measure was a composite of fetal loss plus preterm delivery before 28 weeks of gestation in cytogenetically normal pregnancies. RESULTS: We randomized 3,775 women into 2 groups (1,914 to CVS; 1,861 to amniocentesis), which were comparable at baseline. More than 99.6% had the assigned procedure, and 99.9% were followed through delivery. In contrast to previous thinking, in the cytogenetically normal cohort (n = 3,698), no difference in primary study outcome was observed: 2.1% (95% confidence interval 1.5, 2.8) for CVS and 2.3% (95% confidence interval, 1.7, 3.1) for amniocentesis. However, spontaneous losses before 20 weeks and procedure-related, indicated terminations combined were increased in the amniocentesis group (P =.07, relative risk 1.74). We found a 4-fold increase in the rate of talipes equinovarus after amniocentesis (P =.02) overall and in week 13 (P =.03, relative risk = 4.65), but data were insufficient to determine this risk in week 14. CONCLUSION: Amniocentesis at 13 weeks carries a significantly increased risk of talipes equinovarus compared with CVS and also suggests an increase in early, unintended pregnancy loss. LEVEL OF EVIDENCE: I

Psychological determinants of financial preparedness for retirement.

PURPOSE: Economists predict that in the coming decades an unprecedented number of American baby boomers will enter retirement lacking adequate resources. The present investigation was designed to examine the factors that influence individuals' financial preparedness for retirement. DESIGN AND METHODS: A total of 230 participants each completed a multifaceted questionnaire on their own personal retirement planning practices. Structural equation modeling techniques were used to examine the relationships among individuals' personality characteristics, their financial knowledge, and financial preparedness. RESULTS: The adopted structural model revealed that both personality constructs and financial knowledge were significant predictors of pre-retirement planning. IMPLICATIONS: The findings from this study have important implications for how educational and marketing efforts should be developed for individuals who are differentially prone toward saving.

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47, +20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47, +18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47, +20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling.

Age differences in performance awareness on a complex financial decision-making task.

Individuals tend to be overconfident when making retrospective judgments about the quality of their decisions. However, few studies have focused on age differences in estimates of decision quality. In the present experiment performance estimates were provided by task-trained and untrained young and old individuals following completion of a series of complex financial decisions. Confidence levels were assessed by examining discrepancies between perceived and actual solution quality. Performance estimates of all 4 groups contained appreciable estimation error; however, no group showed a substantial directional bias toward underconfidence or overconfidence. Young trainees were significantly less confident in the quality of their decisions than young novices, but a comparable training effect was not found among older individuals. One's knowledge of the task, prior decision-making experience, and level of self-esteem may combine to determine the accuracy of one's retrospective performance estimates.

Analysis of structure and discriminative power of the Mattis Dementia Rating Scale.

The study examines the factor structure and provides test of the discriminative properties of the 38-item Mattis Dementia Rating Scale (MDRS). The MDRS was designed a priori to measure five broad domains of cognitive abilities: attention, initiation/perseveration, conceptualization, construction, and memory. Complete item level data were collected at the USC Alzheimer Disease Research Center from 19 probable Alzheimer's Disease (AD) patients, 17 cases with dementia of various etiologies (e.g., multiple infarct), and 49 contrast subjects. Factor analyses, with rotation to equamax criterion, were performed on education partialled data. Five and six factor solutions accounted for most of the reliable variance and permitted simple structure theoretical description for separate subscales. These factors, similar to Mattis' design, can be characterized as Memory (Recall)/Verbal Fluency, Construction, Memory (short-term), Initiation/Perseveration, and Simple Commands. Cross-validated discriminant analyses performed on five unit-weighted composite variables derived from factor analysis provided better classification (72% vs 62%) than the 38 Mattis items alone.

Quantitative analysis of DNA-sequencing electrophoresis.

At the heart of the DNA-sequencing process is a remarkably selective electrophoretic separation of up to 1000 oligonucleotide fragments, each differing in size by only a single nucleotide unit. A quantitative analysis of this separation is performed in terms of both selectivity and efficiency. It is shown that both the Ogston sieving and reptation migration mechanisms are operative. It is demonstrated that, under the conditions used in traditional sequencing electrophoresis, Joule heating does not significantly contribute to band broadening, and that diffusion is the primary contributor to plate height. An analytic expression is derived relating the peak width for each fragment to its molecular size. Calculations are presented showing that, when longer sequences are required, the maximum electrical field strength will be limited by the influence of biased reptation on the separation selectivity. Finally, it is shown that, when short sequences are required, the electrical field strength is limited by the ability to dissipate Joule heat, and that in these cases a tube format will be approximately 50% faster than a slab having a thickness equivalent to the tube diameter.

Incidence of nonbacterial intraamniotic infections in abnormal pregnancies.

Amniotic fluids from 41 abnormal and 47 control pregnancies were examined for viruses, Chlamydia trachomatis, Ureaplasma urealyticum and Mycoplasma hominis. Abnormal pregnancies included those with fetal abnormalities, maternal complications, suspected chorioamnionitis and premature labor. Two percent of cultures were positive, including cytomegalovirus from one case of fetal growth retardation and U urealyticum from two patients with chorioamnionitis and from two controls. The abnormal pregnancies studied generally were not associated with nonbacterial intraamniotic infections.

Fundamentals for oncology nurse/data managers--preparing for a new role.

The nurse's role as a clinical trial data manager is a vital component of the success of the trial. Physicians rely on the nurse's expertise as a skilled observer to gather clinical data; act as a liaison to the many agencies involved in the study; instruct patients, families, and colleagues; and assess the information gathered. However, information about the nurse/data manager role is scarce. This article reviews information useful for the nurse assuming a clinical trial data manager position and for the nurse caring for patients on a research protocol.

Familial abdominal wall defects.

We report 2 families, each having multiple sibs with abdominal wall defects. In family 1, normal parents gave birth to identical (monochorionic, diamniotic) twins. This is the first reported case of gastroschisis occurring in monozygotic twins. In family 2, a normal mother gave birth to a son with omphalocele. Two subsequent pregnancies with a different husband resulted in a stillborn girl with partial atresia of the colon and a liveborn girl with gastroschisis. In neither case were there any associated anomalies. In neither of the 2 families was there consanguinity or history of other abdominal wall defects. The familial occurrence of these defects suggests that 1) multifactorial determination should be considered in at least some cases of abdominal wall defects, 2) the bowel atresias that occasionally accompany gastroschisis may also have a genetic (multifactorial) cause, and 3) some cases of gastroschisis and omphalocele may have the same genetic cause.

Chemotherapy plus RA233 in the treatment of oat cell lung cancer.

One hundred and one patients with oat (small) cell lung cancer have been treated with CAVE [Cytoxan, Adriamycin, Vincristine, and etoposide (VP-16)] chemotherapy +/- RA233 (a platelet-inhibiting agent). There was no difference in disease-free interval, pattern of relapse, or survival between groups.