The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications.
The objective of this study is to explore the diagnosis pattern of mid-trimester fetal chromosomal aneuploidy and its clinical applications. A large group of pregnant women (18-34 years) received dual serological screening. The elderly pregnant women, who were at high and critical risk and refused amniocentesis, underwent non-invasive detection of fetal DNA upon recommendation. Then, the pregnant women with positive non-invasive detection results received amniocentesis, amniotic cell culture, and karyotype analysis for confirmation. In total, 24,520 women and 629 elderly women (>35 years) received amniocentesis, amniotic cell culture, and karyotype analysis, and 1512 women received non-invasive detection of fetal DNA. A total of 275 women received invasive prenatal diagnosis. Seventeen cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of sex chromosomal abnormality were diagnosed. The serological screening-gene detection-prenatal diagnosis for mid-trimester fetal chromosomal aneuploidy increased the detection rate, and decreased the frequency of invasive prenatal diagnosis.
Genetic Medical Center, Xuzhou Maternity and Child Health Hospital, 46 Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, China.
Yuan
Y
Fang
Department of Radiology, Xuzhou Central Hospital, Xuzhou, China.
Guangming
G
Wang
Genetic Medical Center, Xuzhou Maternity and Child Health Hospital, 46 Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, China.
Chuanxia
C
Wang
Genetic Medical Center, Xuzhou Maternity and Child Health Hospital, 46 Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, China.
Feng
F
Suo
Genetic Medical Center, Xuzhou Maternity and Child Health Hospital, 46 Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, China. gumaosheng2007@126.com.
Maosheng
M
Gu
Department of Obstetrics and Gynecology, Xuzhou Maternity and Child Health Hospital, 46 Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, China. epspartner@163.com.
Yujuan
Y
Xia
D000293:Adolescent; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism; D000782:Aneuploidy; D002681:China; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014314:Trisomy; D055815:Young Adult
Chromosomal aneuploidy; Non-invasive detection of DNA; Pattern of prenatal diagnosis