[Screening for chromosomal abnormalities using nuchal translucency measurement with materal serum biochemistry markers in first trimester].
OBJECTIVE
To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester.


METHODS
Maternal serum were collected from 2 739 pregnant women between 11 and 14 weeks gestation. Free beta human chorionic gonadotrophin(beta-hCG), pregnancy-associated plasma protein(PAPP-A) from materal serum were measured using time resolved fluorescence immunoassay(TRFIA) and fetal nuchal translucency(NT) thickness were measured using transabdominal or transvaginal ultrasound. 22 chromosomal defects were diagnosed in 22 cases using karyotyping. The levels of three markers were analyzed among 22 cases and 870 controls.


RESULTS
The level of three markers were significant difference between affected and unaffected pregnancies. In affected cases, the value or level of NT and free beta-hCG were higher, while the level of PAPP-A was lower. We found that screening for chromosomal defects using a combination of NT and serum biochemistry was associated with a detection rate of 91.67% for all types of chromosomal defects, with a false-positive rate of 11.16%.


CONCLUSIONS
A combination of nuchal translucency measurement with materal serum biochemistry markers provides an effective method of screening for chromosomal defects.
Liao
Shi-xiu
SX
Department of Gynecology and Obstetrics, Affiliated Tongji Hospital, Tongji College, Huazhong University of Technology, Wuhan 430030, China.
Huang
Fei-fei
FF
Yang
Yan-li
YL
Song
Zi-bo
ZB
Wang
Ying-tai
YT
Wang
Zhao-cai
ZC
Qu
Xian-zhong
XZ
Chen
Han-ping
HP
D000328:Adult; D015415:Biomarkers / Q000097:blood; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000097:blood; D011266:Pregnancy-Associated Plasma Protein-A / Q000378:metabolism*; D011296:Prenatal Diagnosis / Q000379:methods*
D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A