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Table 1 Common sonographic defects in aneuploides fetuses

From: Pattern of secretion of pregnancy-associated plasma protein-A (PAPP-A) during pregnancies complicated by fetal aneuploidy, in vivo and in vitro

 

Trisomy 21 (n = 31)

Trisomy 18 (n = 21)

Trisomy 13 (n = 3)

1rst trimester

   

Cystic hygromata

2

3

0

Enlarged NT (≥3.5 mm)

14

9

0

Hydrops

0

1

0

Cardiac abnormalities

0

2

1

Encephalocele

0

2

0

Spina bifida

0

2

0

Exomphalos

0

5

1

2d and 3d trimester

   

Choroid plexus cysts

1

2

0

Other brain abnormalities

1

0

1

Skull and face abnormalities

1

1

0

Cardiac abnormalities

3

2

1

Digestive atresia

1

1

0

Hepatic calcifications

1

0

0

Renal abnormalities

0

1

0

Ascite

0

1

0

Extremities abormalities

1

1

1

Short femur

1

1

0

Macrosomia or hypotrophia

1

1

0

Fetal death

0

1

0

Decrease or increased amniotic fluid volume

4

2

1

  1. Ultrasound scanning was performed by experimented operators at the first, the second and the third trimester on 55 fetuses which were thereafter diagnosed trisomic 21, trisomic 18 and trisomic 13 diagnosed by karyotyping chorionc villi, amniotic fluid cells or fetal blood cells.