Ventrikulomegali
Ventrikulomegali
Ventrikulomegali
ABSTRACT
Objective To evaluate the outcome of fetuses affected by
different degrees of ventriculomegaly.
Methods We studied 176 fetuses with ventriculomegaly
and evaluated the pregnancy outcome and the neurodevelopmental outcome at age 24 months. The population
was divided into three groups according to ventricular width: A (mild ventriculomegaly, 10 to 12 mm); B
(moderate, 12.1 to 14.9 mm) and C (severe, 15 mm).
Results Ventriculomegaly was more often an isolated
finding in Group A (44/75; 58.7%) than in Group
B (10/41; 24.4%) and Group C (24/60; 40%). When
the ventriculomegaly was an isolated finding, 97.7% of
fetuses with mild, 80% with moderate and 33.3% of
those with severe dilatation were alive at 24 months.
The neurodevelopmental outcome was normal in 93% of
Group A, 75% of Group B and 62.5% of Group C.
Conclusions Our results suggest that the definition of
borderline ventriculomegaly should be limited to ventricular width below 12 mm. Cases with measurements
above this value are more often associated with malformations and have a normal neurodevelopmental outcome
less frequently. Copyright 2005 ISUOG. Published by
John Wiley & Sons, Ltd.
INTRODUCTION
A standard examination of the fetus includes prenatal
sonographic evaluation of the cerebral ventricles, which
can be detected as early as 15 weeks gestational age, and
their measurement is part of the assessment of the central
nervous system (CNS).
Severe ventriculomegaly (width of the atria of the
lateral ventricles 15 mm) is often associated with an
unfavorable outcome1 . However, the significance of lesser
degrees of dilatation, also called borderline dilatations
METHODS
We reviewed 204 consecutive cases of ventriculomegaly
referred to our ultrasound unit in a 10-year period (June
1990 to June 2000). Twin pregnancies (n = 14) and
cases with incomplete follow-up (n = 14) were excluded,
leaving 176 cases for analysis.
Indications for scanning were: suspected ventriculomegaly and/or other CNS malformations in 123 cases
(70%), suspected non-CNS malformations in 30 cases
(17%) and no risk factors (routine scanning) in 23 cases
(13%). The scans were performed transabdominally with
different ultrasound equipment: Aloka SSD-680, Aloka
SSD-1700 (Aloka Company Ltd, Tokyo, Japan), ATL
3000 and ATL 5000 (Advanced Technology Laboratories,
Bothwell, WA, USA). Ventriculomegaly was defined as the
diameter of one or both lateral ventricles 10 mm. The
ventricular atria were measured on an axial plane at the
level of the thalami by positioning electronic calipers on
the internal margins of the ventricular wall perpendicular
to the long axis of the ventricles7 .
In each case, a thorough sonographic evaluation of
fetal anatomy was performed, including fetal echocardiography. Information about the fetal karyotype was
available in 152 cases. Twenty-four mothers refused the
cytogenetic analysis (17 had a normal child and seven
had the pregnancy terminated because of multiple malformations of the fetus). Screening for infections (TORCH)
Correspondence to: Prof. T. Todros, Dipartimento di Ostetricia e Ginecologia, Unita` di Medicina Materno-Fetale, Universita` di Torino, Via
Ventimiglia 3, 10126 Torino, Italia (e-mail: [email protected])
Accepted: 29 December 2004
ORIGINAL PAPER
Fetal ventriculomegaly
was performed in only 30 cases. Data on pregnancy outcome were available in all cases: spontaneous miscarriage,
termination of pregnancy (TOP), type of delivery, perinatal, neonatal and infant morbidity and mortality. In
cases of miscarriage, TOP, neonatal or infant death the
postmortem examination was available. A detailed clinical examination and instrumental examination, where
appropriate, were obtained in liveborn infants. All the
surviving neonates were at least 24 months old at the
time of the study (range, 212 years).
Data on their neurodevelopmental condition were
obtained in structured interviews with the parents. The
questionnaire included the evaluation of: locomotor
activities and co-ordination of movements; hearing and
visual capacity (also activity of the oculomotor muscles);
development and quality of speech and socialization skills;
learning performance; evolution of diagnosed anomalies
or new pathologies and their therapies (often chronic)
(Figure 1).
We defined severe neurodevelopmental outcomes as:
cerebral palsy (with or without the need for orthopedic
help, urinary incontinence, daily enemas, etc.), epilepsy,
bradyacusia with prothesis, mono/bilateral blindness and
mental retardation. Mild anomalies were: moderate
motor skill problems (with or without tone and reflex
anomalies), squint, nystagmus, mild speech difficulty,
moderate learning problems and ventricular-peritoneal
shunt with normal motor development8 .
The population was divided into three groups according
to the degree of ventricular dilatation: mild, from 10 to
12 mm (Group A), moderate, from 12.1 to 14.9 mm
(Group B), and severe, 15 mm (Group C). There were
75 cases (43%) in Group A, 41 (23%) in Group B and
60 (34%) in Group C. Outcomes in the three groups
were compared by means of 2 test and Fishers exact
test.
RESULTS
The median gestational age at diagnosis of ventriculomegaly was 24 (range, 1536) weeks in Group A, 29
(range, 1639) weeks in Group B and 25 (range, 1539)
weeks in Group C. The number of cases diagnosed before
24 weeks was significantly higher (P = 0.003) in Groups
A (46/75; 61%) and C (34/60; 57%) than in Group B
(12/41; 29%). Different outcomes of the total population
are summarized in Figure 2.
Ventriculomegaly was more often an isolated finding in
Group A (44/75; 58.7%) than in Group B (10/41; 24.4%)
(P < 0.001) and Group C (24/60; 40%) (P = 0.047).
Structural and/or chromosomal anomalies were found
in 31 fetuses (41.3%) of Group A, 31 (75.6%) of
Group B and 36 (60%) of Group C (Table 1). All the
malformations were diagnosed in utero, although not
always at the first examination. In Group A, there were
three cases of chromosomal anomalies not associated with
structural malformations; the maternal age in these three
cases was 25, 30 and 42 years. The ventriculomegaly
was unilateral in five cases: four in Group A, one
373
QUESTIONNAIRE
Assessment of locomotor activity:
1) When did he/she begin crawling?
2) When did he/she begin to walk alone?
3) When did he/she start running?
4) Did he/she have any difficulty with hand use?
5) Did he/she ever have motor co-ordination problems
(for instance when he/she was playing, running.)?
6) Did he/she have any difficulty with sitting?
Assessment of eye and hand co-ordination:
1) Did/Does he/she ever have visual disorders? If yes, of what
degree?
2) Does he/she wear glasses? If yes, why?
3) Does he/she have ocular motility problems? If yes, which
ones?
4) Does he/she have problems writing and/or drawing?
5) Is he/she able to reproduce with the drawing the images that
are shown to him/her?
Assessment of hearing and speech capacity:
1)
2)
3)
4)
5)
Gaglioti et al.
374
Cases of ventriculomegaly
n = 204
MILD
n = 75
Excluded
n = 28
twin pregnancies
14
incomplete follow-up 14
SEVERE
n = 60
MODERATE
n = 41
Associated*
n = 31
Associated*
n = 31
ISOLATED
n = 44
1 Spontaneous
miscarriage
Normal
Associated*
n = 36
ISOLATED
n = 10
ISOLATED
n = 24
13 TOP
2 Neonatal death
1 Infant death
1 TOP
1 Neonatal death
n = 40
Normal
n=6
Normal
n=5
Mild handicap n = 2
Mild handicap n = 2
Mild handicap n = 1
Severe handicap n = 1
Severe handicap n = 0
Severe handicap n = 2
Figure 2 Flow chart showing the different outcomes of the total population. * Associated with structural and/or chromosomal malformations
(see Table 1). TOP, termination of pregnancy.
Fetal ventriculomegaly
375
Group
A
No. of
cases
Chromosomal
anomalies
Structural malformations
47,XY,+21
47,XX,+21
47,XX,+21
47,XY,+18
46,XY/47,XY,+8 (mosaicism)
47,XX,+21
47,XX,+21
47,XY,+13
5
4
3
1
10
B
1
10
6
2
3
9
2
10
11
1
1
1
10
47,XY,+21
47,XXX
47,XXY
Termination of pregnancy
Spontaneous miscarriage
Intrauterine death
Neonatal death
Infant death
Alive at 24 months of age
Group B (41)
Group C (60)
Isolated
(44)
Associated
(31)
Isolated
(10)
Associated
(31)
Isolated
(24)
Associated
(36)
Total
(176)
0
1
0
0
0
43
22
2
0
2
0
5
1
0
0
1
0
8
11
1
0
2
2
15
13
0
0
2
1
8
18
1
0
2
1
14
65
5
0
9
4
93
DISCUSSION
Abnormal dilatation of the cerebral lateral ventricles was
one of the first malformations to be recognized prenatally
in the late seventies. The diagnosis of hydrocephaly was
made when the ventricle/hemisphere ratio was above
the upper limits of reference ranges. Subsequent studies
characterized the in utero growth of different parts of
the ventricular system and reference values of ventricular
width were established throughout pregnancy7,9 11 . The
accepted standard today is the measurement of atrial
width at the level of the choroid plexus.
n
Normal
Mild handicap
Severe handicap
43
40* (93)
2 (4.6)
1 (2.3)
8
6 (75)
2 (25)
0 (0)
8
5 (62.5)
1 (12.5)
2 (25)
Gaglioti et al.
376
Table 4 Outcome of the liveborn fetuses according to the evolution of ventriculomegaly in utero
Evolution of
ventriculomegaly
Improved in:
Group A
Group B
Group C
Total n (%)
Stable in:
Group A
Group B
Group C
Total n (%)
Worsened in:
Group A
Group B
Group C
Total n (%)
Normal
Mild handicap
Severe handicap
37
5
4
46 (92)
2
1
3 (6)
1 (2)
7
2
4
13 (35)
1
1
2 (5)
1
7
3
11 (30)
2
4
5
11 (30)
10
14
13
37
2
2
4 (21)
1
1
2 (10.5)
4
7
11 (58)
1
1
2 (10.5)
0
8
11
19
Dead
Total (106)
40
6
4
50
Fetal ventriculomegaly
outcome was better when the ventriculomegaly was mild:
it was normal in 93% of the cases compared with 75% in
moderate cases. Vergani et al.5 reported similar results in
isolated cases: a significantly lower rate of developmental
delay when atrial width was < 12 mm (3%) than when
it was 1215 mm (23%). Pilu et al.6 , in a review of the
literature on 141 cases, reported a 3.8% rate of abnormal
neurodevelopmental outcome when the atrial width was
< 12 mm, compared to 14% when it was 1215 mm6 .
Recently, Signorelli et al.16 published results in 60 cases of
mild isolated ventriculomegaly 12 mm, reporting normal neurodevelopmental outcome in 100% of the cases.
They suggested considering this atrial width a variant of
the norm, once structural and chromosomal anomalies
have been excluded. The fact that only in Group A there
was a prevalence of male fetuses (61%) would support
the observation that male fetuses have a slightly greater
atrial width compared to females6 .
The evolution of ventriculomegaly in utero seems to
be related to the outcome, with better prognosis when
ventriculomegaly improves or disappears, independently
of the severity at first presentation (mild, moderate or
severe).
In conclusion, our results suggest that the definition of
mild ventriculomegaly should be limited to a ventricular
width below 12 mm. Cases with measurements above this
value, but below 15 mm, are more often associated with
structural malformations. Moreover, they have a normal
neurodevelopmental outcome less frequently, although
numbers are too small to reach statistical significance. We
suggest that they should be considered separately (and
defined as moderate). When ventriculomegaly is found,
the diagnostic work-up must include targeted ultrasound
examinations and fetal echocardiography since the rate of
associated malformations is high and CNS or extraneural
anomalies may be present. It must be underscored that
in some cases associated structural malformations may
be diagnosed later in pregnancy. Although the rate of
chromosomal anomalies in isolated ventriculomegaly is
fairly low, it still justifies offering fetal karyotyping.
ACKNOWLEDGMENTS
We thank Marilisa Biolcati for the statistical analysis and
Dr Peter Christie for reviewing the English language.
REFERENCES
1. Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC (eds). The
central nervous system. In Prenatal Diagnosis of Congenital
Anomalies. Appleton & Lange: East Norwalk, Connecticut,
1988; 179.
377
2. Goldstein RB, La Pidus AS, Filly RA, Cardoza J. Mild lateral
cerebral ventricular dilatation in utero: clinical significance and
prognosis. Radiology 1990; 176: 237242.
3. Bromley B, Frigoletto FD Jr, Benacerraf BR. Mild fetal lateral
ventriculomegaly: clinical course and outcome. Am J Obstet
Gynecol 1991; 164: 863867.
4. Bloom SL, Bloom DD, DellaNebbia C, Martin LB, Lucas MJ,
Twickler DM. The developmental outcome of children with
antenatal mild isolated ventriculomegaly. Obstet Gynecol 1997;
90: 9397.
5. Vergani P, Locatelli A, Strobelt N, Cavallone M, Ceruti P,
Paterlini G, Ghidini A. Clinical outcome of mild fetal ventriculomegaly. Am J Obstet Gynecol 1998; 178: 218222.
6. Pilu G, Falco P, Gabrielli S, Perolo A, Sandri F, Bovicelli L.
The clinical significance of fetal isolated cerebral borderline
ventriculomegaly: report of 31 cases and review of the literature.
Ultrasound Obstet Gynecol 1999; 14: 320326.
7. Cardoza JD, Goldstein RB, Filly RA. Exclusion of fetal ventriculomegaly with a single measurement: the width of the
lateral ventricular atrium. Radiology 1988; 169: 711714.
8. World Health Organization. International classification of
impairments, disabilities and handicaps: manual of classification
relating to the consequences of disease. Geneva, Switzerland:
World Health Organization; 1980.
9. Alagappan R, Browning PD, Laorr A, Mc Gahan JP. Distal
lateral ventricular atrium: reevaluation of normal range.
Radiology 1994; 193: 405408.
10. Farrell TA, Hertzberg BS, Kliewer MA, Harris L, Paine SS. Fetal
lateral ventricles: reassessment of normal values for atrial
diameter at US. Radiology 1994; 193: 409411.
11. Pilu G, Reece EA, Goldstein I, Hobbins JC, Bovicelli L. Sonographic evaluation of the normal developmental anatomy of the
fetal cerebral ventricles: II The atria. Obstet Gynecol 1989; 73:
250255.
12. Graham E, Duhl A, Ural S, Allen M, Blakemore K, Witter F.
The degree of antenatal ventriculomegaly is related to pediatric
neurological morbidity. J Matern Fetal Med 2001; 10: 258263.
13. den Hollander NS, Vinkesteijn A, Schmitz-van Splunder P,
Catsman-Berrevoets CE, Wladimiroff JW. Prenatally diagnosed
fetal ventriculomegaly: prognosis and outcome. Prenat Diagn
1998; 18: 557566.
14. Mercier A, Eurin D, Mercier PY, Verspyck E, Marpeau L,
Marret S. Isolated mild fetal cerebral ventriculomegaly: a
retrospective analysis of 26 cases. Prenat Diagn 2001; 21:
589595.
15. Patel MD, Filly AL, Hersh DR, Goldstein RB. Isolated mild
fetal cerebral ventriculomegaly: clinical course and outcome.
Radiology 1994; 192: 759764.
16. Signorelli M, Tiberti A, Valseriati D, Molin E, Cerri V, Groli C,
Bianchi UA. Width of the fetal lateral ventricular atrium
between 10 and 12 mm: a simple variation of the norm?
Ultrasound Obstet Gynecol 2004; 23: 1418.
17. Tomlinson MW, Treadwell MC, Bottoms SF. Isolated mild
ventriculomegaly: associated karyotypic abnormalities and
in utero observations. J Matern Fetal Med 1997; 6: 241244.
18. Terry M, Calhoun BC, Walker W, Apodaca C, Martin L,
Pierce B, Hume RF, Evans MI. Aneuploidy and isolated mild
ventriculomegaly. Attributable risk for isolated fetal marker.
Fetal Diagn Ther 2000; 15: 331334.
19. Pilu G, Hobbins JC. Sonography of fetal cerebrospinal anomalies. Prenat Diagn 2002; 22: 321330.