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. 2013 Sep 20;8(9):e75428. doi: 10.1371/journal.pone.0075428

Table 2.

Total First trimester screen Down syndrome risk Second trimester quadruple test Down syndrome risk Maternal age Nuchal translucency (mm) Karyotype Remark
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