Özcan Hüseyin Çağlayan, Uğur Mete Gürol, Sucu Seyhun, Mustafa Aynur, Bayramoğlu Tepe Neslihan, Balat Özcan
Gaziantep University Faculty of Medicine, Department of Obstetrics and Gynecology, Gaziantep, Turkey.
Turk J Obstet Gynecol. 2017 Jun;14(2):114-120. doi: 10.4274/tjod.36097. Epub 2017 Jun 15.
To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital.
This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation. We compared the different types of DIPP performed in our hospital.
Two thousand one hundred eighty-five procedures were performed (1853 amniocenteses, 326 chorionic villus sampling, and 6 cordocenteses). The main indication for performing invasive procedures was abnormal results of aneuploidy screening for trisomy 21, followed by maternal age, and fetal structural abnormality. The fetal karyotype was altered in 154 (26.1%) cases. Trisomy 21 was the most common aneuploidy followed by trisomy 18, monosomy X, and trisomy 13. Fetal karyotype could not be revealed in 42 (2%) cases due to maternal contamination in 18 cases, inadequate sampling in 4 cases, and failure of cell culture in 27 cases. There were 2 pregnancy losses due to the invasive procedure (only in amniocentesis).
The ideal approach to pregnancies with a detected chromosomal abnormality should be tailored according to the individual choice of the couples regarding whether they decide for or against a child with a known chromosomal abnormality.
确定在一所大学医院进行的诊断性侵入性产前检查(DIPP)的频率、适应证及结果。
这项回顾性观察性研究纳入了2010年至2016年间在一所大学医院妇产科进行的2185例DIPP(绒毛取样、羊膜穿刺术和脐血穿刺术)。我们纳入了所有妊娠11至24周期间进行的DIPP病例。我们比较了在我院进行的不同类型的DIPP。
共进行了2185例手术(1853例羊膜穿刺术、326例绒毛取样和6例脐血穿刺术)。进行侵入性检查的主要适应证是21三体非整倍体筛查结果异常,其次是母亲年龄和胎儿结构异常。154例(26.1%)胎儿核型发生改变。21三体是最常见的非整倍体,其次是18三体、X单体和13三体。42例(2%)病例因18例母亲污染、4例取样不足和27例细胞培养失败而未能显示胎儿核型。有2例因侵入性检查导致妊娠丢失(仅在羊膜穿刺术中)。
对于检测到染色体异常的妊娠,理想的处理方法应根据夫妇双方对于是否决定生育已知染色体异常患儿的个人选择来量身定制。