First trimester combined screening for Trisomy 21 in Hong Kong: outcome of the first 10,000 cases.
OBJECTIVE
To examine the effectiveness of first trimester fetal Trisomy 21 (T21) screening using a combination of maternal age, nuchal translucency, maternal serum levels of free beta-hCG and PAPP-A in a predominantly Chinese population in Hong Kong.


METHODS
Consecutive women who underwent the combined screening for T21 between 11 and 13 + 6 weeks of gestation between 2003 and 2007 were recruited. Risk of T21 was calculated using Fetal Medicine Foundation algorithm and karyotyping was advised when the risk was 1:300 or above. All women were followed up for pregnancy and fetal outcome.


RESULTS
10,363 fetuses underwent screening. 99% of the women were Chinese and 27.4% were at or above 35 years old. 618 fetuses were screened positive (5.9%), which included 31 cases of T21, 14 cases of T18, 7 cases of T13, 10 cases of 45XO and 7 cases of other chromosomal abnormalities. Among the 9745 screened negative fetuses all but 50 (0.5%) had a known outcome, which included three T21 and four other chromosomal abnormalities. All were subsequently identified at the morphology scan except for one case of T21. The detection rate and false positive rates for T21 were 91.2% and 5.4%, respectively and the positive predictive value for all chromosomal abnormalities was 1 in 9.


CONCLUSIONS
Combined screening for T21 is highly effective among Chinese women. Training, quality control, regular auditing and follow up are essential to maintain screening standards.
Leung
Tak Yeung
TY
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China SAR. tyleung@cuhk.edu.hk
Chan
Lin Wai
LW
Law
Lai Wa
LW
Sahota
Daljit Singh
DS
Fung
Tak Yuen
TY
Leung
Tse Ngong
TN
Lau
Tze Kin
TK
D000328:Adult; D044466:Asian People; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005820:Genetic Testing; D006723:Hong Kong; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011446:Prospective Studies