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Abstract The analyze the screening results of 99835 newborns with genetic metabolic disease (GMD) from Fuyang city in 2018. Methods: The data of 99,835 newborns involved in screening for phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) in 2008 were collected retrospectively. The foot blood of these newborns was collected 72 hours after birth and full lactation. The concentrations of thyroid stimulating hormone (TSH), 17α- hydroxyprogesterone (17α- OHP), and phenylalanine (Phe) were measured. The suspicious cases were reexamined and gas phase color Spectrum or gene test was used in highly suspicious cases for definite diagnosis. Results: The positive rate of initial examination of TSH was 1.68%, that of 17 -α- OHP was 0.33%, and that of Phe was 0.54%. The positive rate of primary screening of TSH was 0.50%, that of 17 -α- OHP was 0.17%, and that of Phe was 0.13%. The positive rate of reexamination of TSH was 0.38%, that of 17 -α- OHP was 0.16%, and that of Phe was 0.10%. The definite diagnosis rate of TSH was 1:1664, that of 17 -α-OHP was 1:24959, and that of Phe was 1:8317. The results of primary screening of TSH, 17 -α- OHP and Phe had difference among different months in 2018. The positive rate of 17-α- OHP of the newborns were higher when their mother with delivery gestational weeks < 37 weeks, their birth weight <2500g, or their age ≥8d when blood collection. Conclusion: In Fuyang city, the detection rate of PKU and CH of newborns is slightly higher, but the detection rate of CAH is lower. To some extent, the detection rate of PKU, CH and CAH are affected by the detection time, which suggested that clinical screening should be paid attention to in the control of time differences to ensure the blood collection correctly for improving the efficiency of the initial screening.
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