Utilization of available prenatal screening and diagnosis: effects of the California screen program

Blumenfeld, Yair J.; Taylor, Joanne; Lee, H C; Hudgins, Louanne; Sung, Joyce F.; El‐Sayed, Yasser Y.

doi:10.1038/jp.2012.8

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…Other tools reported in a few studies were screening tests (i.e., 1st or 2nd trimester prenatal tests, screening test for FH), medical records, death certificates, cancer registry, telephone counseling and physician referral letters. Family history collection and risk assessment were mostly performed in programs providing BRCA1/2 (52/59 programs), Lynch syndrome (21/23 programs) (Table 3), and CF testing (10/17 programs) (Bickerstaff et al, 2001; Donnai and Elles, 2001; Ekstein and Katzenstein, 2001; Byck et al, 2006; Berkenstadt et al, 2007; Drury et al, 2007; Washington State Department of Health, 2008; Blumenfeld et al, 2012; Currier et al, 2012; Long and Goldblatt, 2014).…”

Section: Resultsmentioning

confidence: 99%

Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature

et al. 2019

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Background: The provision of genetic services, along with research in the fields of genomics and genetics, has evolved in recent years to meet the increasing demand of consumers interested in prediction of genetic diseases and various inherited traits. The aim of this study is to evaluate genetic services in order to identify and classify delivery models for the provision of genetic testing in European and in extra-European countries. Methods: A systematic review of the literature was conducted using five electronic resources. Inclusion criteria were that studies be published in English or Italian during the period 2000–2015 and carried out in European or extra-European countries (Canada, USA, Australia, or New Zealand). Results: 148 genetic programs were identified in 117 articles and were delivered mostly in the UK (59, 40%), USA (35, 24%) or Australia (16, 11%). The programs were available nationally (66; 45%), regionally (49; 33%) or in urban areas (21, 14%). Ninety-six (64%) of the programs were integrated into healthcare systems, 48 (32.21%) were pilot programs and five (3%) were direct-to-consumer genetic services. The genetic tests offered were mainly for BRCA1/2 (59, 40%), Lynch syndrome (23, 16%), and newborn screening (18, 12%). Healthcare professionals with different backgrounds are increasingly engaged in the provision of genetic services. Based on which healthcare professionals have prominent roles in the respective patient care pathways, genetic programs were classified into five models: (i) the geneticists model; (ii) the primary care model; (iii) the medical specialist model; (iv) the population screening programs model; and (v) the direct-to-consumer model. Conclusions: New models of genetic service delivery are currently under development worldwide to address the increasing demand for accessible and affordable services. These models require the integration of genetics into all medical specialties, collaboration among different healthcare professionals, and the redistribution of professional roles. An appropriate model for genetic service provision in a specific setting should ideally be defined according to the type of healthcare system, the genetic test provided within a genetic program, and the cost-effectiveness of the intervention. Only applications with proven efficacy and cost-effectiveness should be implemented in healthcare systems and made available to all citizens.

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Section: Resultsmentioning

confidence: 99%

Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature

et al. 2019

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“…The trends identified in this study have been seen in the past after the introduction of new prenatal screening tests. For example, there was a significant decrease in the demand for invasive testing after the introduction of NT measurements [ 32 , 33 ] A decrease in the number of invasive procedures was also seen after first trimester combined screening was made available to Medi-Cal (state insured) patients [ 34 ]. This suggests that when cell-free fetal DNA screening becomes validated in lower-risk populations, it will continue to exceed other screening methods in popularity and further reduce the number of invasive tests performed.…”

Section: Discussionmentioning

confidence: 99%

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

Shah

French

Osann

et al. 2014

JCM

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Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively). Women with positive California Prenatal Screening Program (CPSP) results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff-) DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

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“…Final analyte values are reported in multiples of the median (MoM), which is controlled for multiple variables including maternal age, ethnicity, smoking status, pregestational diabetes status, and use of assisted reproductive technology. 17…”

Section: Serum Analytesmentioning

confidence: 99%

The Use of Sequential Integrated Screening to Stratify Risk in Monochorionic-Diamniotic Twin Pregnancies

et al. 2020

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Objective This study aimed to identify differences in sequential integrated screening and early ultrasound markers in monochorionic/diamniotic (MC/DA) pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) and unequal placental sharing (UPS). Study Design Retrospective cohort study of MC/DA pregnancies evaluated between January 2012 and July 2017 at the University of California San Francisco. MC/DA pregnancies with ultrasound surveillance up to 26 weeks who participated in the California Prenatal Screening Program (CPSP) were included. Pregnancies with structural or genetic anomalies were excluded. UPS was defined as an intertwin growth discordance ≥20%. Intertwin nuchal translucency (NT) discordance was calculated by the absolute value of the difference of the NT of cotwins. Kruskal–Wallis or ANOVA testing was performed where appropriate, and negative binomial regression models were chosen to test for differences in mean biomarker levels by outcome group. Results A total of 191 MC/DA pregnancies were included; 85 were affected by TTTS, 35 by UPS, and 71 controls. Significant differences in intertwin NT discordance in pregnancies complicated by TTTS and UPS compared with controls (p = 0.007) were found. TTTS cases had a mean NT discordance greater than two times that of controls (p = 0.04), while UPS cases had a value more than three times greater (p = 0.003). There was a statistically significant difference in mean second trimester human chorionic gonadotropin (hCG) between the cohorts (p = 0.0002) with TTTS cases having a mean second trimester hCG value 1.5 greater than both controls (p < 0.001) and UPS cases (p = 0.001). Analysis showed a significant difference in mean second trimester inhibin between the three cohorts (p = 0.029). Pregnancies complicated by UPS had a mean second trimester inhibin 1.5 times greater than controls (p = 0.010). Conclusion Our study shows that there are unique differences in early ultrasound and sequential integrated serum markers between MC/DA gestations complicated by TTTS and UPS versus those unaffected. Key Points

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Utilization of available prenatal screening and diagnosis: effects of the California screen program

Cited by 5 publications

References 11 publications

Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature

Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

The Use of Sequential Integrated Screening to Stratify Risk in Monochorionic-Diamniotic Twin Pregnancies

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