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PubMed2006

Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children.

There is movement to expand newborn screening (NBS) to include conditions that challenge the traditional public health screening criteria. Little is known about the attitudes of genetic counselors towards expanding NBS and offering predictive genetic tests to children. For our study genetic counselors completed an internet survey posted on the National Society of Genetic Counselors Listserv regarding five conditions: cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), glucose-6-phosphate dehydrogenase deficiency (G6PD), fragile X (FraX), and type 1 diabetes (T1D). The survey addressed attitudes towards: (1) testing high-risk infants; (2) mandatory NBS; (3) population screening beyond the newborn period; and (4) testing one's own child. Two hundred sixty-seven usable surveys were received. Over two-thirds of respondents supported testing high-risk infants for all conditions except T1D (22%). CF was the only condition for which there was majority support for both mandatory NBS (56%) and later population screening (60%). For all other conditions, later population screening was preferred over NBS (P <or= 0.01). Genetic counselors were most likely to test their own child for CF (46%) and least likely to test their own child for T1D (6%). For each condition, genetic counselors were more likely to support NBS if they chose to screen their own newborn (P < 0.001). Attitudes towards NBS were not influenced by year of graduation or professional experience. We can conclude that genetic counselors are supportive of targeted testing of high-risk infants. They prefer voluntary population screening with consent to mandatory NBS for conditions that challenge Wilson and Jungner criteria. Their support for NBS correlates with their interest in testing their own children and not with professional experience.

Attitude of Health Personnel↗
PubMed2007

The value of different screening tests in predicting prostate biopsy outcome in screening for prostate cancer data from a multicenter study (ERSPC).

BACKGROUND: Although serum PSA testing is widely used as a screening test for prostate cancer (PC), it is known that it is not specific for PC. The study described here focuses on the value of screening tests next to PSA in identifying men with an elevated risk of having PC and the differences between three centers of the European Randomised study of Screening for Prostate Cancer (ERSPC). METHODS: The study population consists of 2,483 men with a PSA > or =4.0 ng/ml, all biopsied. We assessed data on age, serum PSA level at initial and repeat screening, prostate volume, number of positive DRE and TRUS findings, number of previous negative biopsies, and PPV of the three centers and overall. Using logistic regression analysis, predictors for biopsy outcome at repeat screening in men with a PSA value > or =4.0 ng/ml were determined on the complete dataset and per center. RESULTS: In 2,483 men biopsied, 665 cancers were detected (PPV = 26.8%). Data show that all predictors except prostate volume loose their predictive value in men previously biopsied. In men not previously biopsied, the predictive value of DRE and TRUS vary considerably among the three centers. CONCLUSIONS: Looking at the differences in the predictive value of screening tests in three "comparable" centers, generasibility is not as straightforward as it seems. Using a nomogram for predictive purposes developed elsewhere will require a thorough knowledge of the patient population of which it is derived, and one should interpret its results with a critical mind.

Aged↗
PubMed2005

Non-invasive tests to predict fetal anemia in Kell-alloimmunized pregnancies.

OBJECTIVES: To compare test characteristics of ultrasound and Doppler parameters in the prediction of fetal anemia in Kell-alloimmunized pregnancies. METHODS: In this prospective study, 27 fetuses at risk for anemia due to Kell alloimmunization were evaluated with ultrasound and Doppler imaging. Spleen perimeter, liver length, middle cerebral artery (MCA) peak systolic velocity and intrahepatic umbilical venous (IHUV) maximum velocity were measured. Results were compared with fetal hemoglobin values at first intrauterine blood sampling or delivery. Severe fetal anemia was defined as a hemoglobin deficit of at least 5 SD below the mean for gestational age. RESULTS: Eighteen fetuses were anemic and required intrauterine transfusions. In the other nine pregnancies no transfusions were performed; one of these fetuses was severely anemic at birth. MCA and IHUV flow velocities were the best predictors of fetal anemia in Kell alloimmunized fetuses (sensitivity 89% for each test). Sensitivities for spleen perimeter (15%) and liver length (14%) were disappointing. CONCLUSIONS: Doppler evaluation of MCA peak systolic velocity and IHUV maximum velocity can be used to reliably predict severe fetal anemia in Kell alloimmunization.

Blood Flow Velocity↗
PubMed2004

Sit-and-reach test can predict mobility of patients recovering from acute stroke.

OBJECTIVES: To establish the test-retest reliability of the sit-and-reach test (SRT) and to determine the capacity of the SRT to predict mobility of patients recovering from acute stroke. DESIGN: Study 1 consisted of repeating the SRT to examine its reliability over trials (same day) and sessions (alternate days). Study 2 consisted of measuring performance in the SRT 7 to 10 days poststroke and measuring mobility at discharge for prospective analysis. SETTING: Medical and rehabilitation wards in hospital in Hong Kong. PARTICIPANTS: Thirty-six subjects with acute stroke (study 1, n=10; study 2, n=26). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Between 7 and 10 days of stroke onset, distance reached on the SRT was measured. Mobility at discharge was assessed using the transfer and locomotion scale of the FIM instrument (FIM mobility) and a timed walk test. RESULTS: The intertrial and intersession reliability of the SRT were rated good, with intraclass correlation coefficients of .98 and .79, respectively. Distance reached on the SRT correlated with the FIM mobility score on discharge (r=.572, P=.002) and the distance achieved on the timed walk test (r=.524, P=.006). Distance reached on the SRT accounted for 32.7% and 27.5% of the variance in the FIM mobility score at discharge and the distance achieved on the timed walk test, respectively. CONCLUSIONS: Performance in the SRT is reliable and can significantly predict the mobility of patients with acute stroke at discharge.

Aged↗
PubMed1993

Improved predictive carrier testing for familial adenomatous polyposis using DNA from a single archival specimen and polymorphic markers with multiple alleles.

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition caused by mutations in a candidate tumor suppressor gene, adenomatous polyposis coli. Predictive carrier testing for FAP can be accomplished by DNA linkage or mutation detection analysis. In many FAP families all affected individuals are deceased. Archival tissue specimens, if available from such patients, are a useful source of DNA for molecular analysis. We investigated the carrier risk of a presymptomatic 5-year-old girl with a family history of FAP. An archival specimen of normal colonic tissue was only available from the proband's affected deceased father. We screened DNA extracted from this specimen with dinucleotide repeat (CA/GT)n polymorphic marker (D5S346) linked to the adenomatous polyposis coli gene and established that the proband is at more than 99% risk of developing FAP. The proband's increased risk status was subsequently confirmed by identification of a germline adenomatous polyposis coli gene mutation consisting of a 5 base pair deletion at codon 1061. This strategy of using DNA from archival specimens of affected, unavailable FAP patients will increase the number of at-risk individuals that can be diagnosed presymptomatically.

Adenomatous Polyposis Coli↗
PubMed1983

Evaluation of bubble clicking in gastric aspirate in the newborn.

Gastric aspirates were obtained soon after delivery from 167 babies 24 to 40 weeks gestation. Bubble clicking and foam stability tests were compared for their reliability in determining pulmonary maturity. Both tests predicted mature lungs accurately in 90-91% of babies, however their ability to predict immature lungs was less, bubble clicking predicting it accurately in 88% of babies and foam stability test predicting it in 77% of babies. Bubble clicking, foam stability tests, L/S ratio and two dimensional thin layer chromatography were done in 26 gastric aspirates obtained from 22 babies with mature lungs and 4 babies with with hyaline membrane disease. Phosphatidyl glycerol was present in 21 of the 22 babies with mature lungs. Bubble clicking demonstrated a 95% accuracy and foam stability test 100% accuracy in predicting the presence of phosphatidyl glycerol. Bubble clicking is a useful and easily preformed test in the clinical assessment of a preterm baby.

Chromatography, Thin Layer↗
PubMed1999

Advanced semen analysis: a simple screening test to predict intrauterine insemination success.

OBJECTIVE: To determine if a simple screening test of sperm recovery through a density gradient preparation and sperm survival after a 24-hour incubation is predictive of IUI success. DESIGN: Prospective nonrandomized descriptive study. SETTING: Tertiary assisted reproductive technology center. PATIENT(S): Four hundred fourteen couples undergoing IUI for male factor and unexplained infertility. INTERVENTION(S): An advanced semen analysis, which consisted of a basic semen analysis, sperm processing through a density gradient preparation, and a 24-hour sperm incubation, was performed on all couples before beginning IUIs. MAIN OUTCOME MEASURE(S): Cumulative and per cycle pregnancy rates (PRs) were calculated for routine semen parameters, number of sperm processed through density gradient, and percent motile sperm after a 24-hour incubation. RESULT(S): None of the basic semen analysis parameters accurately predicted IUI success. When the processed total motile sperm available for insemination was > or = 10 x 10(6) and their 24-hour survival was > or = 70%, 89% (162 of 182) of couples achieved a pregnancy with a 21.4% (162 of 757) per cycle PR compared to a 2.8% (11 of 403) per cycle PR and 4.7% total PR when survival was <70%. With use of these cutoff values for the advanced semen analysis, the test had a sensitivity of 94% and specificity of 86%. CONCLUSION(S): The number of motile sperm available for insemination and especially their 24-hour survival are highly predictive of IUI success. This advanced semen analysis is an excellent screening test to evaluate couples considering IUI.

Cell Survival↗