Khảo sát tỷ lệ bất thường trong sàng lọc sơ sinh tại Bệnh viện Đại học Y Dược thành phố Hồ Chí Minh=Survey on the prevalence of abnormalities in newborn screening at the University Medical Center Ho Chi Minh City

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Tác giả: Thị Thu Trang Bùi, Thị Bích Chi Mai, Thị Bình Minh Ngô, Di Linh Nguyễn, Ngọc Bích Thảo Nguyễn, Tấn Hiệp Nguyễn, Thành Trị Nguyễn, Thị Băng Sương Nguyễn, Thị Tuyết Phượng Trương

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.219-224

Bộ sưu tập: Metadata

ID: 243755

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The detection rate of abnormalities through newborn screening remains a challenge due to various factors. Determining the prevalence of abnormalities helps assess the effectiveness of the screening program while providing essential data to improve the quality of healthcare services Objectives: Determine the prevalence of abnormalities and related factors in the screening of 5 diseases: G6PD deficiency, congenital hypothyroidism, adrenal hyperplasia, galactosemia, and phenylketonuria in newborns Methods: A cross-sectional descriptive study, retrospectively analyzing data from newborns screened using heel prick blood on filter paper at the University Medical Center Ho Chi Minh City from 01/2023 to 12/2023 Results: Out of a total of 4141 newborns, 52,8% (2186/4141) were male and 47,2% (1955/4141) were female. The prevalence of congenital disease risk was 2,1% for G6PD deficiency (85/4141)
1,9% for elevated TSH (78/4141)
1,3% for elevated 17OH-P (54/4141)
1,0% for GALT deficiency (42/4141) and 0,0004% for elevated PKU (2/4141). Gender was associated with the risk of congenital abnormalities
gestational age and birth weight were related to the risk of elevated 17OH-P with p <
0,05, while the method of delivery did not have a statistically significant association with these risks (p >
0,05). Conclusion: Newborns at risk of congenital diseases account for a significant proportion. Gender is associated with the risk of congenital diseases. These findings underscore the necessity of early screening and monitoring to detect congenital disease risks in newbornsTỷ lệ bất thường được phát hiện qua sàng lọc sơ sinh vẫn còn là một thách thức do nhiều yếu tố khác nhau. Việc xác định tỷ lệ bất thường giúp đánh giá hiệu quả của chương trình sàng lọc, đồng thời cung cấp dữ liệu cần thiết để cải thiện chất lượng dịch vụ y tế Mục tiêu: Xác định tỷ lệ bất thường và một số yếu tố liên quan trong sàng lọc 5 bệnh: thiếu hụt men G6PD, suy giáp trạng bẩm sinh, tăng sản tuyến thượng thận, rối loạn chuyển hóa galactosemia, bệnh Phenylcetone niệu ở trẻ sơ sinh Đối tượng - phương pháp: Nghiên cứu mô tả cắt ngang, hồi cứu dữ liệu trẻ sơ sinh thực hiện sàng lọc bằng máu gót chân trên giấy thấm tại Bệnh viện Đại học Y Dược Thành phố Hồ Chí Minh từ 01/2023 – 12/2023 Kết quả: Trong tổng số 4141 trẻ sơ sinh có 52,8% (2186/4141) trẻ trai, 47,2% (1955/4141) trẻ gái. Tỷ lệ có nguy cơ mắc bệnh bẩm sinh là 2,1% thiếu G6PD (85/4141)
1,9% tăng TSH (78/4141)
1,3% tăng 17OH-P (54/4141)
1,0% (42/4141) thiếu GALT
0,0004% (2/4141) tăng PKU. Yếu tố giới tính có liên quan đến các nguy cơ bất thường bẩm sinh
tuổi thai và cân nặng lúc sinh có liên quan đến nguy cơ tăng 17OH-P với p <
0,05 trong khi đó yếu tố phương pháp sinh liên quan không có ý nghĩa thống kê với các nguy cơ này với p >
0,05 Kết luận: Trẻ sơ sinh có nguy cơ mắc các bệnh bẩm sinh chiếm tỷ lệ đáng kể. Yếu tố giới tính có mối liên quan đến nguy cơ mắc các bệnh bẩm sinh. Kết quả này nhấn mạnh sự cần thiết của việc tầm soát và theo dõi sớm để phát hiện các nguy cơ bệnh bẩm sinh ở trẻ sơ sinh.

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