Phân tích các bất thường về nhiễm sắc thể thai nhi của Karyotpye

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Tác giả: Thị Giang Nguyễn, Thị Giang An Nguyễn

Ngôn ngữ: Vie

Ký hiệu phân loại:

Thông tin xuất bản: Khoa học Y dược - Đại học Quốc gia Hà Nội 2023

Mô tả vật lý: 109 - 116

Bộ sưu tập: Metadata

ID: 409351

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Tóm tắt
Chủ đề

Sàng lọc trước sinh là phương pháp quan trọng được áp dụng trong giai đoạn bào thai nhằm phát hiện và can thiệp sớm, đảm bảo sức khỏe cho trẻ sơ sinh. Cách tiếp cận này nhằm nâng cao chất lượng tổng thể của dân số và giảm thiểu những hậu quả nghiêm trọng liên quan đến dị tật bẩm sinh. Sàng lọc trước sinh bao gồm nhiều kỹ thuật khác nhau, bao gồm điều tra dịch tễ học, siêu âm hình ảnh thai nhi, sàng lọc máu mẹ và sàng lọc nước ối bằng kỹ thuật karyotype. Quá trình này bao gồm việc trích xuất nhiễm sắc thể của thai nhi từ các tế bào có trong nước ối, sau đó là nuôi cấy tế bào và điều trị nhược trương. Sau đó, các nhiễm sắc thể này được nhuộm bằng dải G và được kiểm tra dưới kính hiển vi. Kết quả sàng lọc trước sinh trên mẫu 121 bệnh nhân, có độ tuổi trung bình 32 ± 6,69 cho thấy 21% phụ nữ mang thai đã từng sảy thai, 23,1% trước đó đã sinh con dị tật, 8,3% gia đình từng sảy thai. một bệnh di truyền và 5% cha mẹ có biểu hiện bất thường về nhiễm sắc thể. Trong số 51 bệnh nhân được sàng lọc bằng xét nghiệm Double, 26,45% thai nhi có nguy cơ cao bị dị tật bẩm sinh, trong khi xét nghiệm Tripple xác định nguy cơ cao ở 9,09% trong số 19 trường hợp. Phân tích nhiễm sắc thể của 121 trường hợp cho thấy 15,7% thai nhi có bất thường nhiễm sắc thể, trong đó hội chứng Edwards chiếm 5,78%, hội chứng Down chiếm 4,96%, bất thường nhiễm sắc thể chiếm 3,30%, hội chứng Patau chiếm 0,83% và hội chứng Turner chiếm 0,83%. với giá 0,83%. Tuổi trên 35 (r = 0,08 và OR = 0,63), tiền sử sẩy thai (r = 0,05 và OR = 1,38), tiền sử gia đình mắc bệnh di truyền (r = 0,04 và OR = 1,38) và đột biến nhiễm sắc thể của cha mẹ (r = 0,01) và OR = 1,08) đều được phát hiện là có mối tương quan chặt chẽ với các bất thường của thai nhi. Ngoài ra, mối tương quan tích cực đã được quan sát giữa kết quả sàng lọc siêu âm (r = 0,22 và OR = 5,48) và sàng lọc máu (r = 0,14 và OR = 1,22)., Tóm tắt tiếng anh, Prenatal screening is a crucial method employed during the fetal stage to detect and intervene early, thereby ensuring the health of newborn babies. This approach serves to enhance the overall quality of the population and mitigate the severe consequences associated with birth defects. Prenatal screening encompasses various techniques, including epidemiological investigations, fetal imaging ultrasound, maternal blood screening, and amniotic fluid screening by karyotype technique. The process involves extracting fetal chromosomes from cells present in the amniotic fluid, followed by cell culture and hypotonic treatment. Subsequently, these chromosomes are stained with G-band and examined under a microscope. The results obtained from prenatal screening in a sample of 121 patients, with an average age of 32 ± 6.69, indicated that 21% of pregnant women had experienced a miscarriage, 23.1% had previously given birth to a malformed baby, 8.3% of families had a genetic disease, and 5% of parents exhibited chromosomal abnormalities. Among the 51 patients screened using the Double test, 26.45% of fetuses exhibited a high risk of birth defects, whereas the Tripple test identified a high risk in 9.09% of the 19 cases. Chromosome analysis of the 121 cases revealed that 15.7% of the fetuses exhibited chromosomal abnormalities, with Edwards syndrome accounting for 5.78%, Down syndrome accounting for 4.96%, chromosomal abnormalities accounting for 3.30%, Patau syndrome accounting for 0.83%, and Turner syndrome accounting for 0.83%. Age over 35 years (r = 0.08 and OR = 0.63), history of miscarriage (r = 0.05 and OR = 1.38), family history of hereditary disease (r = 0.04 and OR = 1.38), and parental chromosomal mutations (r = 0.01 and OR = 1.08) were all found to have a strong positive correlation with fetal abnormalities. Additionally, positive correlations were observed between the results of ultrasound screening (r = 0.22 and OR = 5.48) and blood screening (r = 0.14 and OR = 1.22).

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