Alissa M D&#x;Gama,Pankaj B Agrawal
Alissa M D&#x;Gama
Genetic testing that includes rapid genomic sequencing is increasingly being used in the neonate and has the potential to impact neonatal care and outcomes. Neonates with unexplained dysmorphic features or one or more congenital anomalies, ...
Prenatal Genetic Diagnosis: A Guide to Screening and Diagnostic Testing Options [0.03%]
产前基因诊断：筛查和诊断测试指南
Jameaka Latrice Hamilton,Tracy Caroline Bank,Miranda K Kiefer
Jameaka Latrice Hamilton
Prenatal genetic diagnosis consists of fetal risk assessment utilizing screening options such as carrier screening for autosomal recessive conditions, fetal aneuploidy screening with serum-based, ultrasound-based, and cell-free DNA-based as...
Harish Kumar,Asad Abbas,Andrew K Ewer
Harish Kumar
Pulse oximetry screening (POS) is a noninvasive tool for the detection of critical congenital heart defects (CCHD) that has moderate sensitivity and high specificity. It is readily accepted by parents and health care professional and has si...
Sarah M Sánchez,Margaret Kettler,Rakhi Gupta Basuray et al.
Sarah M Sánchez et al.
Congenital cytomegalovirus (CMV) infection is a major cause of sensorineural hearing loss and neurodevelopmental disabilities in childhood. Its diagnosis is dependent on performance of CMV testing at less than 21 days of age. Incorporation ...
Early Hearing Detection [0.03%]
早期听力检测
Ursula M Findlen,Prashant S Malhotra,Lisa L Hunter
Ursula M Findlen
Newborn hearing screening programs in the United States have evolved since first inception several decades ago. Screening has been effectively implemented across the country with coverage of upwards of 98% of children. However, less than ha...
Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia [0.03%]
内分泌系统的新生儿筛查：评估甲状腺功能减退和先天性肾上腺皮质增生的最佳实践
Kathryn Blew,Rachel Modarelli,Sara Duffus et al.
Kathryn Blew et al.
Newborn screening for congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) is essential to reduce the risk of morbidity and mortality from delayed identification and treatment of these conditions. Infants with untreated C...
Ambika Shenoy,Nilesh Seshadri,Haley Haskett et al.
Ambika Shenoy et al.
Cystic fibrosis (CF) newborn screening (NBS) results in earlier diagnosis of CF and better clinical outcomes. The goal of CF NBS is achievement of a timely, equitable diagnosis for all affected individuals. This article outlines CF NBS proc...
Bradford L Therrell
Bradford L Therrell
Newborn screening for hemoglobinopathies began in New York in 1975. It has evolved through the years to include case detection not only for sickle cell diseases but also for many other clinically significant hemoglobin disorders. Hemoglobin...
Yishay Ben-Moshe,V Reid Sutton
Yishay Ben-Moshe
Newborn screening (NBS) in the United States is a vital public health program aimed at early detection and management of rare but treatable conditions in newborns. Criteria for inclusion include the detection of numerous metabolic, endocrin...
Lucky Jain
Lucky Jain