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目的探讨产前提高染色体异常胎儿检出率的有效方法。方法收集2009年1月至2015年11月在大连市妇幼保健院行介入性产前诊断3504例病例染色体异常检出情况及相关因素进行分析总结。结果检出染色体异常胎儿172例(4.9%,172/3504)。其中以高龄、血清学筛查高风险、高危因素和超声异常指标为指征检出率分别为4.2%(63/1503)、2.6%(37/1443)、3.4%(8/236)和19.9%(64/322),超声组检出率最高。172例中21-三体118例,18-三体21例、染色体形态结构畸变19例、性染色体异常12例和13-三体2例。118例21-三体中高龄组40例(2.7%,40/1503)、血清学高风险组33例(2.3%,33/1443)、高危因素组1例(0.4%,1/236)、超声组44例(13.7%,44/322),其中25例为中晚孕超声发现异常指标被检出。高危因素组中有97例孕妇曾出生过21-三体患儿,本次再发风险为0。172例染色体异常胎儿合并超声指标异常共计110例,占64.0%(110/172)。其中21-三体为67.8%(80/118)、18-三体为85.7%(18/21)、13-三体为100%(2/2),性染色体异常中45,XO为100%(6/6),47,XXY为16.7%(1/6);染色体形态结构畸变为21.1%(4/19)。结论产前超声检查可以有效提高染色体异常胎儿的检出率,尤其18-三体、13-三体和45,XO因合并明显结构异常易被超声检出;加强对超声软指标和相关结构异常的识别和重视,可以提高21-三体的产前检出率,尤其中晚孕期可以补充发现一部分因错过早中孕期筛查手段的21-三体胎儿。性染色体异常和染色体形态结构畸变与高龄或夫妇双方染色体异常携带有关,超声检出率低,应加强关注和重视。
Objective To explore an effective method of prenatal detection of fetal chromosomal abnormalities. Methods A total of 3504 cases of chromosomal abnormalities detected by interventional prenatal diagnosis in maternal and child health care centers in Dalian from January 2009 to November 2015 were collected and analyzed. Results Fetal chromosomal abnormalities were detected in 172 cases (4.9%, 172/3504). Among them, the detection rates were 4.2% (63/1503), 2.6% (37/1443), 3.4% (8/236) and 19.9 % (64/322), the highest detection rate of ultrasound group. In 172 cases, there were 118 cases of 21-trisomy, 21 cases of 18-trisomy, 19 cases of chromosomal structural aberrations, 12 cases of sex chromosome abnormalities and 2 cases of 13-trisomy. There were 40 cases (2.7%, 40/1503) in 118 cases of 21-trisomy group, 33 cases (2.3%, 33/1443) in high risk group and 1 case (0.4%, 1/236) in high risk group There were 44 cases (13.7%, 44/322) in the ultrasound group, of which 25 cases were detected by ultrasound findings in middle and late pregnancy. Ninety-seven pregnant women in the group at risk were born with trisomy 21, and the risk of recurrence was 0.172 (110/172), with a total of 110 cases of chromosomal abnormalities associated with fetal abnormalities. The 21- trisomy was 67.8% (80/118), the 18-trisomy was 85.7% (18/21), the 13-trisomy was 100% (2/2), the chromosomal abnormality was 45, the XO was 100% (6/6), 47 and XXY were 16.7% (1/6) respectively. The structural aberration of chromosomes was 21.1% (4/19). Conclusion Prenatal ultrasound can effectively improve the detection rate of fetuses with chromosomal abnormalities. In particular, 18-trisomy, 13-trisomy and 45, XO can be easily detected by ultrasound with obvious structural abnormalities; to strengthen ultrasound soft index and related structural abnormalities Of the identification and attention, can improve the 21-trisomy prenatal detection rate, especially in the middle and late pregnancy can be supplemented to find some due to early pregnancy missed the screening of 21-trisomy fetus. Sexual chromosomal abnormalities and chromosomal structural aberrations related to the elderly or the couple carrying chromosomal abnormalities, ultrasound detection rate is low, should pay more attention and attention.