Newborn Genetic Screening Research Articles

Maternal anxiety associated with newborn genetic screening for type 1 diabetes.

To describe maternal anxiety associated with newborn genetic screening for type 1 diabetes during the first year after risk notification. Mothers of at-risk infants (n = 435), identified through newborn genetic screening as part of the Prospective Assessment of Newborn for Diabetes Autoimmunity (PANDA) study, were administered a short form of the State Trait Anxiety Inventory (STAI) during telephone interviews approximately 3.5 weeks, 4 months, and 1 year after risk notification. Statistical analyses were conducted to examine predictors of maternal anxiety at each interview as well as changes in anxiety over time. For the total sample, initial state STAI scores were not elevated and declined further over time. However, Hispanic mothers, those with low levels of education, those who overestimated the child's risk for diabetes, and mothers of infants in the highest risk group exhibited significantly elevated initial state STAI scores. At 4 months, higher state STAI scores were associated with higher initial state STAI scores, single parent status, having an infant with a first-degree relative with diabetes, and overestimation of the child's actual risk. Initial and 4-month STAI scores remained predictive of STAI scores at 1 year. In addition, single mothers and mothers of female children reported higher STAI state scores 1 year after risk notification. For most mothers, newborn genetic screening to identify infants at increased risk for type 1 diabetes is not associated with significantly elevated maternal anxiety; anxiety further dissipates over time. However, anxiety levels vary considerably as a function of maternal ethnic status, education, marital status, maternal estimation of infant risk, and sex of the child and may be significantly elevated in some women.

Newborn screening and type 1 diabetes: historical perspective and current activities at the CDC Division of Laboratory Sciences.

Diabetes Technology & TherapeuticsVol. 5, No. 6 U.S. Government Diabetes ReportsNewborn Screening and Type 1 Diabetes: Historical Perspective and Current Activities at the CDC Division of Laboratory SciencesRobert F. VogtJr., Nancy Meredith, L. Omar Henderson, and W. Harry HannonRobert F. VogtJr.Search for more papers by this author, Nancy MeredithSearch for more papers by this author, L. Omar HendersonSearch for more papers by this author, and W. Harry HannonSearch for more papers by this authorPublished Online:5 Jul 2004https://doi.org/10.1089/152091503322641079AboutSectionsPDF/EPUB Permissions & CitationsPermissionsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail FiguresReferencesRelatedDetailsCited byGenomics and Population Screening: Example of Newborn ScreeningMaternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes1 August 2007 | Pediatrics, Vol. 120, No. 2A Screening System for Detecting Genetic Risk Markers of Type 1 Diabetes in Dried Blood Spots Paul Dantonio, Nancy Meredith, Marie Earley, Suzanne Cordovado, William J. Callan, Danita Rollin, Deannie Morris, Robert F. Vogt, and W. Harry Hannon29 August 2006 | Diabetes Technology & Therapeutics, Vol. 8, No. 4 Volume 5Issue 6Dec 2003 To cite this article:Robert F. VogtJr., Nancy Meredith, L. Omar Henderson, and W. Harry Hannon.Newborn Screening and Type 1 Diabetes: Historical Perspective and Current Activities at the CDC Division of Laboratory Sciences.Diabetes Technology & Therapeutics.Dec 2003.1017-1021.http://doi.org/10.1089/152091503322641079Published in Volume: 5 Issue 6: July 5, 2004PDF download

High frequency of leukemic clones in newborn screening blood samples of children with B-precursor acute lymphoblastic leukemia

AbstractThe detection of leukemia cells on newborn genetic screening cards (“Guthrie cards”) of a small group of patients and several sets of identical twins developing acute lymphoblastic leukemia (ALL) with identical phenotypic and chromosomal markers has provided evidence that childhood ALL cases may arise in utero. We conducted a retrospective study of a randomly selected group of childhood B-precursor ALL patients to determine the frequency of the presence of “leukemic” clones prenatally in ALL cases by testing newborn screening cards. The 17 ALL patients analyzed had a median age of 46 months (range, 18 months to 13 years) and had median presenting white blood cell (WBC) counts of 10 950/µL (range, 2900-70 300/µL) at diagnosis. A clonal rearrangement of the immunoglobulin heavy chain (IgH) gene was identified in diagnostic lymphoblasts and sequenced and patient-specific primers were used to amplify DNA from blood samples on the patient's newborn screening cards. Twelve of the 17 (71%) analyzed newborn cards had detectable IgH rearrangements amplified by seminested polymerase chain reaction. DNA sequencing confirmed that the IgH rearrangements detected matched the IgH sequences identified from diagnostic leukemia cells, indicating the presence of a “leukemic” clone at birth. There were no differences in age or presenting WBC counts between the cases with or without positive newborn screening cards. All 6 patients with hyperdiploid ALL had detectable “leukemic” clones on their cards. The results of our study support the notion that a high proportion of childhood B-precursor ALL cases arise in utero, although postnatal events are also important factors in leukemogenesis.

Genetic screening of newborns.

Screening of newborn infants for genetic disease began over 35 years ago as a public health measure to prevent mental retardation in phenylketonuria (PKU). It was so successful that tests for several other genetic disorders were added. We review the current status of this screening, including discussions of the genetic disorders often covered and the results of newborn screening for them. We emphasize recent advances. These include expansion of coverage for genetic disorders with the new methodology of tandem mass spectrometry (MS-MS) and the introduction of molecular (DNA) testing to increase the specificity of testing for several disorders, thereby reducing false-positive rates. These and other advances have also produced issues of criteria for screening, missed cases, and appropriate use of stored newborn specimens.

Newborn genetic screening: blessing or curse?

Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom: Board of Directors of the American Society of Human Genetics

Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom: Board of Directors of the American Society of Human Genetics

The Human Genome Project and health behavior and health education research.

The Human Genome Project (HGP) is a multinational initiative to map and sequence the human genome. This major biological research effort, estimated to take 15 years and cost $3 billion, should have significant implications for public health generally, and for health behavior and health education research in particular. It is anticipated that the HGP research will lead to expanded (1) newborn genetic disease screening, (2) prenatal diagnoses and (3) trait carrier screening. The HGP also is likely to lead to presymptomatic screening of people with late onset genetic diseases, as well as screening for genetic-based susceptibility for common disease morbidity and mortality mediated by either or both life style and environmental factors. These potential developments have raised ethical, legal and social questions, and have highlighted the fact that research is needed on individual, organizational, population and governmental use of and response to these developments. Central to the expanding role of genetics in public health will be health behavior and education research. Such research could contribute to an effective and humane applied human genetics.

Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis

Although DNA analysis based on the polymerase chain reaction (PCR) offers potential advantages for screening newborns for sickle cell disease, few data are available concerning the reliability of PCR-based tests for such screening. We describe a protocol for detecting the A, S, and C alleles of the beta-globin gene in dried blood from phenylketonuria screening cards. This method is based on PCR and detection with allele-specific oligonucleotide probes. Results of a blind comparison of PCR analysis of the dried blood with hemoglobin electrophoresis of whole-blood samples agreed for 80 of 81 samples. The single discrepancy is probably not attributable to a failure of the PCR method, but rather to limitations of the electrophoresis method. The PCR method should be a highly accurate means of detecting beta-globin alleles in routine genetic screening with dried blood already collected for (e.g.) phenylketonuria screening.

New Heights for Growth Hormone-Deficient Children

Michele Binder Hall is the newborn screening coordinator for the Newborn Genetic Screening Program, San Diegollmperial Counties Developmental Services. Znc. California Department of Health Services, San Diego.