Ephrem Berhe, Hale Teka, Hiluf Ebuy Abraha, Bisrat Tesfay Abera, Marta Abrha Gebru, Tsega Gebremariam, Mohammedtahir Yahya, Birhane Amare, Habtom Tadesse, Hagos Gidey, Fireweyni Tesfay, Mohamedawel Mohamedniguss Ebrahim, Rahel Kidanemariam, Awol Yemane Legesse
Characteristics and outcome of pregnancy-related acute kidney injury in a teaching hospital in a low-resource setting: a five-year retrospective review
BMC nephrology
new york state nys utilizes threetiered cystic fibrosis newborn screening cfnbs algorithm includes cystic fibrosis transmembrane conductance regulator cftr gene sequencing infants 1 cftr variant potential clinical relevance including variants uncertain significance varying clinical consequence referred diagnostic evaluation nys cystic fibrosis cf specialty care centers sccs part ongoing quality improvement efforts demographic screening diagnostic clinical data evaluated 289 cfnbspositive infants identified nys december 2017 november 2020 meet diagnostic criteria cf classified either cftrrelated metabolic syndromecf screen positive inconclusive diagnosis crmscfspid cf carriers overall 194289 671 cftr phasing confirm whether infants cftr variants cis trans eighteen complex alleles identified cis known haplotypes pr117h5t pf508delpl467f pr74wpd1270n common identified thirtytwo infants 165 variants cis reclassified cf carriers rather crmscfspid among 263 infants evaluated nys scc 703 reported received genetic counseling results provider 96263 365 counseled certified genetic counselor given particularly complex genetic interpretation results generated cfnbs algorithms including sequencing analysis additional efforts needed ensure families infants positive cfnbs result cftr phasing needed distinguish carriers infants crmscfspid access genetic counseling address implications cfnbs results