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目的探讨S0N0NT检测早孕期双胎妊娠胎儿NT筛查染色体异常的研究。方法选择2015年1月至2016年4月本院及协作医院孕11~13+6w双胎早孕,应用自动颈后透明层厚度测量(Sonography-based Nuchal Translucency)S0N0NT检测早孕期双胎妊娠胎儿NT筛查染色体异常,对发现的双胎妊娠胎儿NT增厚者,进行绒毛活检术或羊膜腔穿刺术行染色体检查,确诊染色体异常的胎儿在超声引导下行选择性减胎术治疗,并对妊娠结局进行跟踪分析。结果 10例NT增厚,4例染色体异常,分别为21-三体综合征2例,1例Turner综合征,1例染色体微缺。另6例患者在早中期超声复查中,发现其中3胎儿结构异常,分别为颈部淋巴管囊肿、心脏异常、全身水肿等。10例患者中4例染色体异常患者行选择性减胎。3例足月分娩,新生儿均未见异常。结论双胎妊娠应注重早孕期染色体筛查,确诊宫内胎儿染色体异常的患者可在超声引导下行选择性减胎术治疗,而对早中期超声检查发现其中的三胎儿结构异常者,根据父母意愿,选择妊娠去留,为临床及孕妇提供客观的诊断依据。
Objective To investigate the chromosomal abnormalities of S0N0NT detecting NT screening fetus in twin pregnancy in early pregnancy. Methods From January 2015 to April 2016, our hospital and cooperative hospital were pregnant with 11 ~ 13 + 6w twin pregnancies. Sonography-based Nuchal Translucency S0N0NT was used to detect fetal NT in the first trimester of pregnancy Screening for chromosomal abnormalities, fetal twins found fetal NT thickening, villus biopsy or amniocentesis line of chromosomal examination confirmed chromosomal abnormalities fetus under ultrasound-guided selective abortion surgery, and the pregnancy outcome Follow-up analysis. Results 10 cases of NT thickening, 4 cases of chromosomal abnormalities were 21 cases of trisomy 21 cases, 1 case of Turner syndrome, 1 case of chromosomal edema. Another 6 patients in the early and mid-term ultrasound review found that 3 of the fetal structure abnormalities, namely lymphatic neck cyst, abnormal heart, body edema and so on. In 10 patients, 4 patients with chromosomal abnormalities underwent selective abortion. 3 cases of full-term delivery, neonatal no abnormalities. Conclusion Pregnant women should pay attention to chromosome screening in early pregnancy. Patients with confirmed intrauterine fetal chromosomal abnormalities may be treated with selective fetal abortion guided by ultrasound. In the early or mid-term ultrasound examination, three abnormal fetal structures are found. According to parents’ wishes , Choose to stay in pregnancy, clinical and pregnant women to provide objective diagnosis.