Objective To analyze the results of neonatal inherited metabolic disease (IMD) screening in Yili Kazak Autonomous Prefecture, Xinjiang from 2012 to 2022, so as to provide a theoretical evidence for prevention and treatment of birth defects.
Methods Data of 267 741 new borns who were involved in congenital hypothyroidism (CH) and phenylketonuria (PKU) screening in Maternal and Child Health Care Hospital of Yili Kazak Autonomous Prefecture were collected retrospectively from 2012 to 2022. Thyroid stimulating hormone (TSH) and phenylalanine (Phe) L-phenylalanine were analyzed through testing blood specimens taken from the heel of newborns. Annual screening rate, unqualified rate, unqualified blood re-sampling rate and the suspicious positive recall rate of CH, PKU and hyperphenylalaninemia(HPA) were compared.
Results A total of 267 741 newborns were screened by the genetic laboratory of Maternal and Child Health Care Hospital of Yili Kazak Autonomous Prefecture from 2012 to 2022, and the screening rate increased from 35.53% in 2012 to 98.75% in 2022. The recall rate of suspected positive cases increased from 57.79% in 2012 to 89.09% in 2022, while the unqualified rate of blood specimens decreased from 2.41% in 2012 to 0.72% in 2022. The re-collection rate of unqualified blood specimens increased from 23.29% in 2012 to 82.71% in 2022. In addition, 132 newborns were diagnosed with IMD, including 84 cases of CH, 21 cases of PKU and 27 cases of mild HPA.
Conclusion Increasing screening rate, suspicious positive recall rate and unqualified blood re-sampling rate of neonatal IMDs reduce birth defects, and effectively promote prenatal and postnatal care.
DownLoad: