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Desachy G.,University of California at San Francisco | Croen L.A.,Kaiser Permanente | Torres A.R.,Utah State University | Kharrazi M.,Genetic Disease Screening Program | And 4 more authors.
Molecular Psychiatry | Year: 2015

Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control data sets confirms female excess in CNV number (P=2.1 × 10-5) and gene content (P=4.1 × 10-3). We additionally observed CNV enrichment in ASD mothers compared with control mothers (P=0.03). We speculate that tolerance for CNV burden contributes to decreased female fetal loss in the population and that ASD-specific maternal CNV burden may contribute to high sibling recurrence. These data emphasize the need for study of familial CNV risk factors in ASDs and the requirement of sex-matched comparisons. © 2015 Macmillan Publishers Limited.

Flessel M.C.,Prenatal Screening Branch | Lorey F.W.,Genetic Disease Screening Program
Genetics in Medicine | Year: 2011

The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric. © 2011 Lippincott Williams & Wilkins.

Barradas D.T.,Centers for Disease Control and Prevention | Dietz P.M.,Centers for Disease Control and Prevention | Pearl M.,Sequoia Foundation | England L.J.,Centers for Disease Control and Prevention | And 2 more authors.
Paediatric and Perinatal Epidemiology | Year: 2014

Background Obstetric estimate (OE) of gestational age, recently added to the standard US birth certificate, has not been validated. Using early ultrasound-based gestational age (prior to 20 weeks gestation) as the criterion standard, we estimated the prevalence of preterm delivery and the sensitivity and positive predictive value (PPV) of gestational age estimates based on OE. Methods We analyzed 165 148 singleton livebirth records (38% of California livebirths during the study period) with linked early ultrasound information from a statewide California prenatal screening programme. OE of gestational age estimates was obtained from birth certificates. Results Prevalence of preterm delivery (<37 weeks gestation) was higher based on early ultrasound (8.1%) compared with preterm delivery based on OE (7.1%). Sensitivity for preterm birth when using OE for gestational age was 74.9% (95% confidence interval [CI] [74.1, 75.6]), and PPV was 85.1% (95% CI [84.4, 85.7]). Incongruence, defined as a ≥ 14-day difference between early-ultrasound-derived gestational age and OE, was 3.4%. Conclusions OE reported on the birth certificate may underestimate the prevalence of preterm delivery, particularly among women of non-Hispanic non-white race and ethnicity and women with lower educational attainment, public insurance at time of delivery, and missing prepregnancy BMI. Additional validation studies in other samples of births are needed. © Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

Hasegawa L.E.,Hawaii Genetics Program | Fergus K.A.,Hawaii Genetics Program | Ojeda N.,Genetic Disease Screening Program | Au S.M.,Hawaii Genetics Program
Public Health Genomics | Year: 2011

Aims: This study assessed parent knowledge of newborn screening (NBS) and parent attitudes toward NBS for untreatable conditions, NBS for late-onset disorders and informed consent in NBS. Methods: Seventeen qualitative focus groups were held in Alaska, California, Hawaii, and Washington with mothers of children 10 years old or younger. Results: Most participants did not recall receiving information about NBS, and all wanted this information prenatally. In addition, most felt that the current system of 'informed dissent' was adequate, provided they were told about NBS prior to delivery. All women supported NBS for conditions that occur in infancy without a proven treatment. However, they disagreed about NBS for disorders that manifest in late childhood or adulthood. Conclusions: The results show a general consensus among the focus group participants about issues that cause dissent among public health and health care professionals. Parent attitudes differ from those of many professional communities with regard to timing of NBS education, informed consent, NBS for disorders that lack an effective treatment, and predictive testing of children for late-onset disorders. The results highlight the need to further research parent opinions about expanded NBS using new technologies and to include parents in the development of NBS policies. Copyright © 2010 S. Karger AG, Basel.

Lawrence R.,University of California at San Diego | Brown J.R.,Zacharon Pharmaceuticals Inc. | Lorey F.,Genetic Disease Screening Program | Dickson P.I.,University of California at Los Angeles | And 2 more authors.
Molecular Genetics and Metabolism | Year: 2014

The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate. This review provides a summary of glycan biomarkers that have been used to characterize animal models of MPS, for diagnosis of patients, and for monitoring therapy based on hematopoietic stem cell transplantation and enzyme replacement therapy. Recent advances have focused on the non-reducing terminus of the glycosaminoglycans that accumulate as biomarkers, using a combination of enzymatic digestion with bacterial enzymes followed by quantitative liquid chromatography/mass spectrometry. These new methods provide a simple, rapid diagnostic strategy that can be applied to samples of urine, blood, cerebrospinal fluid, cultured cells and dried blood spots from newborn infants. Analysis of the non-reducing end glycans provides a method for monitoring enzyme replacement and substrate reduction therapies and serves as a discovery tool for uncovering novel biomarkers and new forms of mucopolysaccharidoses. © 2013 Elsevier Inc.

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