First trimester Down syndrome screening (9/2006-12/2011) |
4106 |
|
|
|
|
|
|
High risk |
127 |
|
|
|
|
|
Screening positive rate: 3.1%; Detection rate: 100% |
|
|
1/2 |
|
32 |
6 |
Trisomy 18 |
Terminated |
|
|
1/2 |
|
30 |
6.4 |
Trisomy 18 |
Terminated |
|
|
1/143 |
|
42 |
9.5 |
Trisomy 18 |
Terminated |
|
|
1/2 |
|
32 |
6 |
Trisomy 21 |
Terminated |
|
|
1/2 |
|
34 |
1.3 |
Trisomy 21 |
Terminated |
|
|
1/2 |
|
33 |
7.6 |
45,X |
Cystic hygroma, terminated |
|
|
1/91 |
|
33 |
1.5 |
45,X |
Terminated |
|
|
1/22 |
|
44 |
7.5 |
Trisomy 13 |
Megacystic, SUA, tachycardia, terminated |
|
|
1/111 |
|
33 |
3.6/3.1 |
both 46, XY |
Twins, one IUFD at the 17th week of gestation |
|
|
1/2; 1/292 |
|
29 |
8.9/2.0 |
both 46, XY |
Twins, one IUFD at the 15th week of gestation, hydrops fetalis |
|
|
1/102 |
|
35 |
3.5 |
6p25 microdeletion |
Severe TR, AC, complex CHD, termination at the 17th week of gestation |
|
|
1/19 |
|
33 |
2 |
46, XX |
Oligohydromnios and IUFD at the 23rd week of gestation |
|
|
1/47 |
|
30 |
2.8 |
46, XY |
Thanotophoric dysplasia, terminated |
|
|
1/4 |
|
43 |
1.4 |
46, XY |
Skeletal dysplasia, terminated at the 32nd week of gestation |
Intermediate risk |
211 |
|
|
|
|
|
|
|
|
1/412 |
|
35 |
1.1 |
69,XXX |
Immature fetus delivered spontaneously at 22 weeks; birth weight 170 g |
|
|
1/973 |
|
29 |
2.8 |
mos 47,XY,+21 [7]/46,XY[5] |
Terminated |
|
|
1/305 |
|
29 |
3 |
46,xy |
IUFD at the 22nd week of gestation |
|
|
1/828 |
1/5030 |
32 |
1.9 |
46,xy |
Hydrops fetalis,terminated |
|
|
1/310 |
<1/38500 |
33 |
2.6 |
|
IUFD at the 23rd week of gestation |
|
|
1/749 |
|
29 |
2.3 |
46,X, del(Y) (q12)dn |
Live birth |
|
|
1/672 |
|
32 |
1.7 |
45, X |
Terminated |
|
|
1/302 |
1/61 |
30 |
1.8 |
46, XX |
Live birth |
Second trimester quadruple Down syndrome screening (5/2008-12/2011) |
1307 |
|
|
|
|
|
Screening positive rate: 9.0%; Detection rate: 75% |
High risk |
118 |
|
|
|
|
|
|
|
|
|
1/122 |
33 |
|
47, XX,+21 |
Terminated |
|
|
|
1/6 |
31 |
|
47, XY,+21 |
Terminated |
|
|
|
1/6 |
41 |
|
47, XY,+21 |
Terminated |
|
|
|
1/1110 |
41 |
|
47, XY,+21 |
Pregnancy at 18th week of gestation with multiple fetal anomalies, terminated |