Articles and resources
Idario Santos – Sweet Odyssey
Idario Santos - talks about his sons journey with Maple Syrup Urine Disease - Sweet Odyssey
An innovative approach to sickle cell screening in Uganda – Interview with Charles Kiyaga
An innovative approach to sickle cell screening in Uganda - Interview with Charles Kiyaga
Expanded newborn screening – An interview with Dr. Marianna Messina
Dr. Marianna Messina discusses her experiences introducing expanded screening to her laboratory in Italy.
First years of experience on LSD screening in Italy, Padova
The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) for lysosomal storage diseases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
Variability of “Reported Fetal Fraction” in Noninvasive Prenatal Screening (NIPS)
Persson et al., Clinical Chemistry, 2021
Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies
Huang et al., BMC Pregnancy and Childbirth, 2020. Provided by the Springer Nature SharedIt content-sharing initiative. No modifications were made on this material. https://creativecommons.org/licenses/by/4.0/
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