Newborn Screening News and Research

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Researchers develop new DNA test for accurate detection of Turner syndrome in children

As a child grows, a short stature is not usually cause for concern, but it is often the only sign of a condition called Turner syndrome. Prevalent in girls, Turner syndrome is a genetic defect that short-circuits normal growth and leads to cardiac and renal problems. It is not commonly detected until age 10 or older when a youngster's unusually short height raises suspicions.

16 Feb 2011

IDF commends Illinois advisory committee for unanimous vote to recommend SCID Newborn Screening

The Illinois Genetic and Metabolic Diseases Advisory Committee voted unanimously to recommend that the Department of Health screen all newborns for Severe Combined Immune Deficiency (SCID) - commonly known as bubble boy disease.

9 Feb 2011

Survey finds most hospitals, birthing centers do not routinely screen for congenital heart defects

Only about two out of every 100 babies (1.8 percent) were screened at birth for congenital heart defects (CHDs) because the hospital or birthing center where the baby was born routinely screens all newborns for CHDs -- the number-one birth defect and leading killer of infants and newborns. This is according to a survey just released by Little Hearts, Inc., a national organization that provides support, education, resources, networking and hope to families affected by congenital heart defects.

8 Feb 2011

IDF commends Florida council for recommending SCID screening for all newborns

The Florida Genetics and Newborn Screening Program Advisory Council voted unanimously to recommend that the Department of Health screen all newborns for Severe Combined Immune Deficiency (SCID) – commonly known as bubble boy disease.

3 Feb 2011

Study suggests newborn diagnosis can improve survival in SCID patients

Severe Combined Immunodeficiency occurs in just one out of every 50,000 to 100,000 births in the United States, yet it is the most serious primary immunodeficiency disorder. A study published today in Blood, the Journal of the American Society of Hematology, demonstrates that babies with SCID who are diagnosed at birth and receive a hematopoietic stem cell transplant, which is the transplantation of blood-forming stem cells, have significantly improved survival.

28 Jan 2011

Realignment with participants' interest important for future of genomic research

Obtaining consent for genetic studies can be an opportunity for researchers to foster respectful engagement with participants, not merely to mitigate legal risk. This shift is proposed in a policy forum appearing tomorrow, Jan. 21, in Science, the journal of the American Academy for the Advancement of Science.

25 Jan 2011

Genetic information from Guthrie cards may serve as valuable resource to diagnose infant diseases

Van Andel Research Institute researchers have developed a method that can yield more information from archived newborn blood that has implications for a vast array of research, including population health studies and answering questions about diseases in infants and children.

13 Jan 2011

Study demonstrates new test for early diagnosis of Turner syndrome

A recent study accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM) has demonstrated a novel and accurate test for early diagnosis of Turner syndrome. Turner syndrome affects one in 1,500 to 2,000 female live births and early diagnosis allows for the timely management of short stature and co-morbid conditions including cardiac and renal problems.

9 Dec 2010

Expansion of newborn screening throws some families on a journey of great uncertainty

Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

7 Dec 2010

German Genetic Diagnostics Act in need of amendment

Many aspects of the German Genetic Diagnostics Act (Gendiagnostikgesetz) are out of touch with the latest technology, almost impossible to implement in clinical practice, or even detrimental to the success of recognised screening tests, such as newborn screening. The Act, which came into force in February 2010, is in desperate need of amendment.

11 Nov 2010

Conference of The MacLean Center for Clinical Medical Ethics to focus on health disparities

The 22nd annual conference of The MacLean Center for Clinical Medical Ethics at the University of Chicago will be held at the University of Chicago Law School, 1111 E. 60th Street, on Fri., Nov. 12, from 1 to 5 pm, and Sat., Nov. 13, from 7:30 am to 5:15 pm.

10 Nov 2010

CHORI hosts 2nd annual international Advanced Workshop on Sickle Cell Disease

Children's Hospital & Research Center Oakland is hosting the 2nd annual international Advanced Workshop on Sickle Cell Disease October 28 and 29. This impressive conference will bring together hematologists from Pakistan, Saudi Arabia, Mexico, Venezuela, Brazil, and beyond, and the premier sickle cell experts from the United States for a dialogue on research, comprehensive care, and new treatments and therapies.

27 Oct 2010

Tecan, Luminex collaborate to develop automated newborn screening solution

The Tecan Group and Luminex Corporation have announced that they will collaborate on the development of a new automated newborn screening solution that will provide faster results for infants' potential health concerns.

From Tecan 13 Oct 2010

Newborn Coalition praises SACHDNC's Critical Congenital Heart Disease universal screening recommendation

In a historic vote on September 17, 2010, the Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (SACHDNC) unanimously agreed to recommend the addition of screening for Critical Cyanotic Congenital Heart Disease to the core panel for universal screening of all newborns in the United States.

22 Sep 2010

Hastings Center Report examines ethical controversies over use of personalized medicine

As government support for personalized medicine grows, a consumer advocate, a patient, and bioethicists explore ethical controversies. Direct-to-consumer genetic tests, privacy, targeted cancer therapies, and Henrietta Lacks are among topics in a special issue of the Hastings center Report

18 Sep 2010

Luminex launches FDA-cleared xTAG Cystic Fibrosis 60 Kit v2 diagnostic test

Luminex Corporation, the worldwide leader in multiplexed solutions, today announced the full commercial launch of its xTAG Cystic Fibrosis 60 Kit v2, a new diagnostic test that can simultaneously screen a single blood sample for up to 60 cystic fibrosis-causing genetic mutations in a matter of hours.

From Thermo Fisher Scientific Inc. 27 Aug 2010

Research supports population screening for fragile X syndrome in women of reproductive age

There's adequate research data to support population screening of women of childbearing age for fragile X syndrome—the most common inherited cause of cognitive impairment, according to a report in the July issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

14 Jul 2010

Unsatisfactory interactions with physicians affect sickle cell disease patients' trust in medical profession

Faculty at the Johns Hopkins Berman Institute of Bioethics have published a study that shows, among adults with sickle cell disease, that unsatisfactory interactions with health-care providers in the past affect their trust in the medical profession more broadly.

5 Jun 2010

SCID added to the core panel of 29 genetic disorders

On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services announced the addition of Severe Combined Immunodeficiency -- commonly known as bubble boy disease -- to the core panel of 29 genetic disorders -- as part of her recommendation to adopt the national Recommended Uniform Screening Panel.

26 May 2010

New national standards issued for newborn screening

New national standards issued today will assist states to align their newborn screening programs with "the most up-to-date research, technology, laboratory and public health standards and practices."

24 May 2010