Newborn screening: current status.

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are i...

Frequency of Profound Congenital Hearing Loss in Healthy Newborn Infants in Fars Province

Introduction Deafness is one of the most important sensory disturbances at birth. Hearing loss can affect the development of speaking and learning during life. Early diagnosis and intervention improve language outcome. The  current study aimed to determine the frequency of profound congenital hearing loss in healthy newborn infants in Fars province. Methods In a multicenter prospective study, f...

Cystic fibrosis overview and update on infant care

Cystic fibrosis is now the most common serious, autosomal-recessive disease. It has been described in every population in all parts of the world. In the US, newborn screening is available in all states. Current studies demonstrate that newborn screening, early diagnosis, early nutritional and environmental intervention, and an understanding of the pathophysiology of the disease may increase lif...

Current status of newborn screening worldwide: 2015.

Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers hav...

Newborn screening and related policy against Phenylketonuria in China.

Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulat...

Y Choromosomal Microdeletion Screening in The Workup of Male Infertility and Its Current Status in India