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Table 2 Fetal CNS abnormalities diagnosed during first-trimester scans

From: The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience

Fetal CNS abnormality

Total

Increased NT

Diagnosis

Pregnancy outcome

11-14w

rate, %

22-24w

28-34w

≥ 35w

Post-natal/MRI

TOP

Misc/IUD

LB

Anencephaly

5

 

5

100

0

0

0

 

5

0

0

Exencephaly

22

1

22

100

0

0

0

 

22

0

0

Meningoencephalocele

4

1

4

100

0

0

0

 

3

1

0

Holoprosencephaly

14

 

11

79

2

1

0

 

14

0

0

Alobar

5

 

5

100

0

0

0

 

5

0

0

Semi lobar

8

 

6

75

2

0

0

 

8

0

0

Lobar

1

 

0

0

0

1

0

 

1

0

0

Spina bifida

9

 

2

22

3

3

0

1

5

0

4

Open

3

 

2

67

1

0

0

 

3

0

0

Closed

6

 

0

0

2

3

0

1

2

0

4

PFA

10

1

2

20

5

1

1

1

5

0

5

Dandy-Walker

1

 

1

100

0

0

0

 

1

0

0

Vermis hypoplasia

1

 

0

0

1

0

0

 

1

0

0

Joubert Syndrome

1

 

1

100

0

0

0

 

1

0

0

Cerebellar hypoplasia

1

 

0

0

1

0

0

 

1

0

0

Blake’s cyst

5

1

0

0

3

1

1

 

1

0

4

Mega Cisterna Magna

1

 

0

0

0

0

0

1

0

0

1

Severe ventriculomegaly

12

1

1

8

5

5

1

 

10

1

1

Vein of Galen aneurysmal malformation

1

 

0

0

0

0

1

 

0

0

1

Arachnoid cyst

32

2

0

0

8

9

15

 

6

0

26

Microcephaly

1

 

0

0

1

0

0

 

1

0

0

Agenesis of the Corpus Callosum

12

2

0

0

10

1

0

1

10

0

2

Intracranial infection

1

 

0

0

0

1

0

 

0

0

1

Subependymal cyst

19

 

0

0

0

13

6

 

1

0

18

Septum pellucidum cyst

4

 

0

0

0

3

1

 

0

0

4

Isolated absence of septum pellucidum

1

 

0

0

0

1

0

 

0

0

1

cerebral infarction

2

 

0

0

0

0

0

2

1

1

0

cortex dysplasia

4

 

0

0

0

0

0

4

3

1

0

  1. NT: nuchal translucency; PFA: posterior cranial fossa anomalies; TOP: Termination Of Pregnancy; Misc: Miscarriage; IUD: Intrauterine Death; LB: Live Birth