Detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis and procedure-related complications

( views:, downloads: )
Author:
LI Jie(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
DAI Chen-yan(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
YANG Yan(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
HU Ya-li(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
RU Tong(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
ZHU Hai-yan(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
ZHU Rui-fang(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
ZHANG Ying(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
GU Yan(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
WU Xing(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
YANG Ying(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
DUAN Hong-lei(Mother and Foetus Medical Center in Department of Obstetrics and Gynecology, the Affiliated Hospital of Nanjing University Medical School Nanjing Drum Tower Hospital, Nanjing 210008, China)
Journal Title:
CHINESE JOURNAL OF PERINATAL MEDICINE
Issue:
Volume 12, Issue 02, 2009
DOI:
10.3760/cma.j.issn.1007-9408.2009.02.003
Key Word:
Amniocentesis;Cordocentesis;Prenatal diagnosis;Chromosome aberrations;Pregnancy outcome

Abstract: Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications were reviewed. Results The indications for invasive prenatal diagnosis in these 1264 women were: increased risk at prenatal screening (651, 51.5%), advanced maternal age (≥35) (318, 25.2%), abnormal foundings through uhrasonograph (136, 10.8%),history of adverse pregnancy (88, 6.9%), one or two abnormal serologic markers (52,4.1%), and chromosomal balance translocation carrier in either one of the couple(19, 1.5%). Thirty-seven cases were found to be chromosomal abnormalities with clinic significance and the indications for them were: ultrasonic abnormality (20/136, 14.7%); increased risk at prenatal screening (12/651, 1.8%); one or two abnormal serologic markers (1/52, 1.9%); history of adverse-pregnant (1/88, 1.1%)chromosomal balance translocation carrier in either one of the couple (3/19, 15.8%); advanced maternal age (0/318). Among the 1264 cases, 5 experienced spontaneous abortion and the procedure-related fetal loss rates were 0.28% for amniocentesis (3/1082) and 1.09% for cordocentesis (2/182), P=0. 154. The rate of complications after cordocentesis was significantly higher than amniocentesis (9.89 % vs 0.18 %, P= 0.0001). Conclusions Routine fetal karyotyping should be prompted after prenatal ultrasonographic abnormalities. However, invasive prenatal diagnosis due to advanced maternal age alone is controversial. Amniocentesis is the fist choice for invasive prenatal diagnosis.

  • [1]Bethune M.Literature review and suggested protocol for managing ultrasound soft markers for Down syndrome:thickened nuchal fold,echogenic bowel,shortened femur,shortened humerus,pyelectasis and absent or hypoplastic nasal bone.Australas Radiol,2007,51:218-225.
  • [2]Liao C,Huang Y,Li D,et al.Second-trimester maternal serum screening for Down syndrome in Mainland China.Prenat Diagn,2006,26:1271-1272.
  • [3]O'Leary P,Breheny N,Dickinson JE,et al.First-trimester combined screening for Down syndrome and other fetal anomalies.Obstet Gynecol,2006,107:869-876.
  • [4]Cuckle HS,Malone FD,Wright D,et al.Contingent screening for Down syndrome-results from the FASTER trial.Prenat Diagn,2008,28:89-94.
  • [5]ACOG Practice Bulletin.No.88.Invasive prenatal testing for aneuploidy.Obstet Gynecol,2007,110:1459-1467.
  • [6]Eddleman KA,Malone FD,Sullivan L,et al Pregnancy loss rate after midtrimester amnicocentesis Obstet Gynecol,2006,108:1067-1072.
  • [7]Mungen E,Tutuncu L,Muhcu M,et al.Pregnancy outcome following second-trimester amniocentesis:a case-control study.Am J Perinatol,2006,23:25-30.
  • [8]Ghidini A,Sepulveda W,Lockwood CJ,et al.Complications of fetal blood sampling.Am J Obstet Gynecol,1993,168:1339-1344.
  • [9]Petrikovsky B,Schneider EP,Klein VR,et al.Cordocentesis using the combined technique; needle guide-assisted and freehand.Fetal Diagn Ther,1997,12:252-254.
  • [10]Tongsong T,Wanapirak C,Kunavikatikul C,et al.Cordocentesis at 16-24weeks of gestation:experience of 1320 cases.Prenat Diagn,2000,20:224-228.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn