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¡¡¡¡¹Ø¼ü´Ê£ºÎÞ´´²úÇ°¼ì²â; ȾɫÌå·ÇÕû±¶Ìå; ȾɫÌåºËÐÍ·ÖÎö; FISH¼¼Êõ;

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¡¡¡¡The clinical application of non-invasive prenatal testing and FISH

¡¡¡¡TANG Jia SUN Shu-xiang XU Jin-mei LI Qing SUN Tie-lan LI qiu-li YANG Jin-ju LU Ye LI Xiao-min ZHAO Shao-cui LING Ying-cong TAN Wei-lan LI Ling MO Zhong-you ZENG Qin-long

¡¡¡¡Medical Genetics Center, Jiangmen Maternity and Child health Care Hospital Department of Medical Imaging Center, The First Affiliated Hospital of Jinan University

¡¡¡¡Abstract£º

¡¡¡¡Objective:To determine the clinical value of non-invasive prenatal test (NIPT) and Fluorescence in situ hybridization (FISH) for the diagnosis of Fetal Chromosoma I Aneuploidy. Methods:From October 2016 to October 2017, 4807 pregnant women volunteered to participate in the study. Amniocentesis was performed on high-risk pregnant women following NIPT. NIPT results were verified by karyotype analysis and FISH analysis. Low-risk patients were routinely followed up after birth. Results:65 of 4787 cases were in high-risk fetal abnormal chromosome aneuploidy (1.34%) , including 1 case of 13-trisomy, 8 cases of 18-trisomy, 18 cases of 21-trisomy, and 38 cases of sex chromosome abnormalities. 59 cases underwent amniocentesis and prenatal diagnosis. The puncture rate was 1.23% (59/4787) . 1 with trisomy 13, 6 with trisomy 18, 16 with trisomy 21 and 13 cases of fetuses with abnormal sex chromosomes were validated by prenatal diagnosis. The positive predictive values were:100%, 85.7%, 88.9%, and 39.4%. The result of NIPT test showed that 2 with mosaic trisomy 21 and 1 with mosaic trisomy 18 were confirmed by FISH. 345 pregnant women with high-risk following serum screening, of these 6 fetal aneuploidy cases were diagnosed by prenatal diagnosis, and the remaining low-risk pregnant women were verified by routine follow-up. Conclusion:Non-invasive prenatal genetic testing has high sensitivity and specificity in the detection of fetal aneuploidy, and combined with FISH can quickly and accurately diagnose aneuploidy of chromosomes. It is worthy of clinical application and promotion to reduce the birth rate of congenital defects.

¡¡¡¡Keyword£º

¡¡¡¡Non-invasive prenatal testing; Fetal aneuploidy; Karyotype analysis; FISH;

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¡¡¡¡ÎÞ´´²úÇ°¼ì²â¼¼Êõ (NIPT, Non-invasive Prenatal Testing) ÊÇÒ»ÖÖÀûÓôó¹æģƽÐвâÐò½øÐÐÌ¥¶ùȾɫÌå·ÇÕû±¶ÌåµÄ¼ì²â¼¼Êõ, ÆäÌصãÊÇÎÞ´´¡¢ÁéÃô¶ÈºÍÌØÒìÐԸߡ¢¼ì²âÖÜÆÚ¶Ì, ÃÖ²¹ÁË´«Í³¼ì²â·½·¨µÄȱÏÝ, Ä¿Ç°¹ã·ºÓ¦ÓÃÓÚÌ¥¶ùȾɫÌå·ÇÕû±¶ÌåµÄ¼ì²â¡£Ñо¿±íÃ÷13-ÈýÌå¡¢18-ÈýÌåºÍ21-ÈýÌå×ÜÌåµÄ¼ì²âÁéÃô¶ÈºÍÌØÒìÐÔ¾ù´óÓÚ99%[5,6,7]¡£±¾Ñо¿¶Ô4787Àý½ÓÊÜNIPTµÄ²¡Àý½øÐлعËÐÔ·ÖÎö, ¶ÔÑôÐԱ걾ÀûÓÃȾɫÌåºËÐÍ·ÖÎö, Ó«¹âԭλÔÓ½» (Fluorescence in situ hybridization, FISH) ÑéÖ¤, ̽ÌÖÎÞ´´²úÇ°¼ì²âµÄÁÙ´²Ó¦ÓüÛÖµ¡£

¡¡¡¡1 ¶ÔÏóÓë·½·¨

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¡¡¡¡3 ÌÖÂÛ

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