Genetic screening and counseling

Norton, Mary E.

doi:10.1097/gco.0b013e3282f73230

Cited by 21 publications

(20 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…More broad-based population carrier testing for cystic fibrosis and Gaucher disease has been offered in New York since 1994 and in Israel since 1995 [15], [16]. Criteria for carrier screening for a genetic disorder generally include clinical severity, high carrier frequency, a reliable and cost-effective testing platform, and availability of genetic counseling for carrier couples [17]. Population-based preconception and prenatal carrier screening for SMA should be made available on a routine basis because of its incidence and severity, high carrier frequency rate, and the availability of a screening test by quantitative polymerase chain reaction or hybridization-based approaches [18], [19], [20].…”

Section: Introductionmentioning

confidence: 99%

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

Hung

Lin

et al. 2011

PLoS ONE

View full text Add to dashboard Cite

BackgroundSpinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25–50) as well as the severity of that genetic disease. Large studies are needed to determine the feasibility, benefits, and costs of such a program.Methods and FindingsThis is a prospective population-based cohort study of 107,611 pregnant women from 25 counties in Taiwan conducted during the period January 2005 to June 2009. A three-stage screening program was used: (1) pregnant women were tested for SMA heterozygosity; (2) if the mother was determined to be heterozygous for SMA (carrier status), the paternal partner was then tested; (3) if both partners were SMA carriers, prenatal diagnostic testing was performed. During the study period, a total of 2,262 SMA carriers with one copy of the SMN1 gene were identified among the 107,611 pregnant women that were screened. The carrier rate was approximately 1 in 48 (2.10%). The negative predictive value of DHPLC coupled with MLPA was 99.87%. The combined method could detect approximately 94% of carriers because most of the cases resulted from a common single deletion event. In addition, 2,038 spouses were determined to be SMA carriers. Among those individuals, 47 couples were determined to be at high risk for having offspring with SMA. Prenatal diagnostic testing was performed in 43 pregnant women (91.49%) and SMA was diagnosed in 12 (27.91%) fetuses. The prevalence of SMA in our population was 1 in 8,968.ConclusionThe main benefit of SMA carrier screening is to reduce the burden associated with giving birth to an affected child. In this study, we determined the carrier frequency and genetic risk and provided carrier couples with genetic services, knowledge, and genetic counseling.

show abstract

Section: Introductionmentioning

confidence: 99%

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

Hung

Lin

et al. 2011

PLoS ONE

View full text Add to dashboard Cite

show abstract

“…Recently, maternal serum and ultrasonographic markers of Down syndrome have played a significant role in the selection of women who are candidates for invasive testing to determine the fetal karyotype [3] . Furthermore, the improvement in ultrasound imaging techniques has allowed the early diagnosis of even subtle congenital anomalies, which are indications for prenatal chromosomal studies [4] .…”

mentioning

confidence: 99%

Knowledge and Attitudes towards Prenatal Diagnostic Procedures among Pregnant Women in Greece

et al. 2010

View full text Add to dashboard Cite

Objective: To assess knowledge and attitudes towards prenatal diagnostic procedures among pregnant women living in Greece who underwent amniocentesis or chorionic villus sampling in relation to underlying demographic, lifestyle and medical history predictors. Method: 354 women, upon receiving the results, were interviewed in person. A structured questionnaire was answered based upon sociodemographic, educational, lifestyle and medical history variables, as well as questions pertaining to the women’s knowledge, use and opinion of prenatal tests. Summary statistics and multiple logistic regression analyses were performed. Results: No prior information on prenatal diagnostic procedures was reported in 29% or on prenatal screening tests in 50% of the study subjects. Women with no history of inherited diseases were about threefold more likely to have inadequate knowledge (OR = 2.72, p = 0.01) as were women of non-Greek nationality (OR = 3.27, p = 0.02) as well as those who reported being unaware of the health consequences of smoking during pregnancy (OR = 2.50, p = 0.005). By contrast, women of higher education were over twofold more likely to attain a higher level of knowledge of prenatal diagnostic procedures (OR = 0.51, p = 10^–4) as were those reported reading the popular press (OR = 0.44, p = 10^–4). Conclusion: In spite of the increased availability of prenatal diagnosis, much more is needed to be done in order to improve the efficiency of prenatal counseling, especially in immigrants and women with a low educational background.

show abstract

“…The sequencing of the human genome is driving an expanding number of carrier tests, rapidly becoming available to the provider and the public [40,41 ]. Each test must be evaluated individually, adhering to the principles of genetic screening detailed earlier.…”

Section: Resultsmentioning

confidence: 99%

Best practices: antenatal screening for common genetic conditions other than aneuploidy

Ram

Klugman

2010

Current Opinion in Obstetrics &Amp; Gynecology

View full text Add to dashboard Cite

show abstract

Genetic screening and counseling

Abstract: Advances in genetic testing have resulted in tremendous benefits to patients, and challenges to providers. New approaches to education and counseling are needed to assure that all patients receive a complete and balanced review of their prenatal genetic-testing options.

Cited by 21 publications

References 41 publications

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

Knowledge and Attitudes towards Prenatal Diagnostic Procedures among Pregnant Women in Greece

Best practices: antenatal screening for common genetic conditions other than aneuploidy

Contact Info

Product

Resources

About