For babies with non-detected CF-causing variants but with an IRT >170ng/mL, the primary care provider should be alert for persistent diarrhea, poor weight gain, chronic cough or respiratory problems. Sweat Chloride testing by the CFF-approved quantitative pilocarpine ionotophoresis method is recommended for all reported positive screening results, i.e., babies with either one or two mutations detected. The most common mutation causing cystic fibrosis is a three-basepair deletion (F508del) in the cystic fibrosis transmembrane regulator (CFTR) gene.ĬOMMENT: Screening for cystic fibrosis using the current two-tiered IRT/DNA approach cannot always distinguish babies who are CF carriers from babies who are affected when only one CF-causing variant is identified. Perform serum total T4, free T4, and TSH if any doubt exists.Īutosomal recessive disorder characterized by pulmonary obstruction and/or exocrine pancreatic dysfunction. The physician must therefore remain alert to clinical symptoms in older infants despite normal newborn screening results. Although newborn screening can detect “primary” hypothyroidism with a high degree of accuracy, other forms of hypothyroidism may develop in the weeks after birth. False positive results occur due to the specimen being collected at the height of the TSH spike, usually within the first hours of life. Hypothyroidism is a family of disorders, including endemic cretinism, thyroid agenesis or ectopia, genetic disorders of thyroid hormonogenesis, or hypopituitarism.ĬOMMENT: TSH increases dramatically shortly after birth and gradually returns to adult normal levels in about 72 hours. See Guidelines for Proper Follow-up of 17-OHP Results.ĬOMMENT: Repeat of non-normal 17-OHP newborn screening tests by a “reference” laboratory is not recommended due to the potential confusion in reporting units.ĭisorders of the thyroid-hypothalamus-pituitary axis resulting in inadequate production of thyroid hormones. Early detection and treatment is essential to prevent death in infants with salt-losing CAH. The 21-hydroxylase deficiency accounts for 90-95% of CAH cases, resulting in ambiguous genitalia in females and salt-losing crisis in either males or females. Clinical symptoms include lack of appetite, vomiting, listlessness, seizures, and coma.īack to top Congenital Adrenal HyperplasiaĪ family of diseases whose common feature is an enzymatic defect in the steroidogenic pathway leading to the biosynthesis of cortisol. NOTE: Newborn screening cannot differentiate citrullinemia from ASA.Īutosomal recessive urea cycle disorder caused primarily by a deficiency in the argininosuccinic acid synthetase enzyme activity causing the build-up of the amino acid citrulline and ammonia in the blood. Individuals with biotinidase deficiency cannot recycle endogenous biotin and cannot release dietary protein-bound biotin.īack to top Citrullinemia (Type I and II) Clinical symptoms include lack of appetite, vomiting, listlessness, seizures, and coma.Īutosomal recessive disorder of biotin recycling that leads to multiple carboxylase deficiencies. NOTE: Newborn screening cannot differentiate ASA from citrullinemia.Īutosomal recessive urea cycle disorder caused primarily by a deficiency in argininosuccinic acid (ASA) lyase enzyme activity causing the build-up of argininosuccinic acid, citrulline, and ammonia in the blood.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |