Accepted Manuscript

Society for Maternal-Fetal Medicine (SMFM) Consult Series #45: Mild fetal
ventriculomegaly: Diagnosis, evaluation, and management

Society for Maternal-Fetal Medicine (SMFM), Nathan S. Fox, MD, Ana Monteagudo,
MD, Jeffrey A. Kuller, MD, Sabrina Craigo, MD, Mary E. Norton, MD

PII: S0002-9378(18)30336-3
DOI: 10.1016/j.ajog.2018.04.039
Reference: YMOB 12163

To appear in: American Journal of Obstetrics and Gynecology

Received Date: 19 April 2018

Accepted Date: 19 April 2018

Please cite this article as: Society for Maternal-Fetal Medicine (SMFM), Fox NS, Monteagudo A,
Kuller JA, Craigo S, Norton ME, Society for Maternal-Fetal Medicine (SMFM) Consult Series #45: Mild
fetal ventriculomegaly: Diagnosis, evaluation, and management, American Journal of Obstetrics and
Gynecology (2018), doi: 10.1016/j.ajog.2018.04.039.

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 ACCEPTED MANUSCRIPT
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1 Society for Maternal-Fetal Medicine (SMFM) Consult Series #45: Mild fetal ventriculomegaly:

2 Diagnosis, evaluation, and management

3 Society for Maternal-Fetal Medicine (SMFM); Nathan S. Fox, MD; Ana Monteagudo, MD;

4 Jeffrey A. Kuller, MD; Sabrina Craigo, MD; and Mary E. Norton, MD

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5

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6

7 Address all correspondence to:

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8 The Society for Maternal-Fetal Medicine: Publications Committee

9 409 12th St, SW

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10 Washington, DC 20024
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11 Phone: 202-863-2476

12 Fax: 202-554-1132
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13 Email: pubs@smfm.org

14 Reprints will not be available

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15
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16 All authors and Committee members have filed a conflict of interest disclosure delineating personal,

17 professional, and/or business interests that might be perceived as a real or potential conflict of interest in
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18 relation to this publication. Any conflicts have been resolved through a process approved by the

19 Executive Board. The Society for Maternal-Fetal Medicine has neither solicited nor accepted any
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20 commercial involvement in the development of the content of this publication.

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26 Abstract

27 Ventriculomegaly is defined as dilation of the fetal cerebral ventricles and is a relatively

28 common finding on prenatal ultrasound. The purpose of this document is to review the diagnosis,

29 evaluation, and management of mild fetal ventriculomegaly. When enlargement of the lateral

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30 ventricles (≥10 mm) is identified, a thorough evaluation should be performed, including detailed

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31 sonographic evaluation of fetal anatomy, amniocentesis for karyotype and chromosomal

32 microarray analysis (CMA), and a workup for fetal infection. In some cases, fetal magnetic

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33 resonance imaging (MRI) may identify other central nervous system abnormalities and should be

34 considered when this technology as well as expert interpretation is available. Follow-up

35
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ultrasound examination should be performed to assess for progression of the ventricular dilation.
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36 In the setting of isolated ventriculomegaly of 10 to 12 mm, the likelihood of survival with

37 normal neurodevelopment is greater than 90%. With moderate ventriculomegaly (13-15 mm),
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38 the likelihood of normal neurodevelopment is 75–93%. The following are Society for Maternal-
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39 Fetal Medicine recommendations: we suggest that ventriculomegaly be characterized as mild

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40 (10–12 mm), moderate (13–15 mm), or severe (>15 mm) for the purposes of patient

41 counseling, given that the chance of an adverse outcome and potential for other
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42 abnormalities are higher when the ventricles measure 13–15 mm versus 10–12 mm

43 (GRADE 2B); we recommend that diagnostic testing (amniocentesis) with CMA should be
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44 offered, when ventriculomegaly is detected (GRADE 1B); we recommend testing for CMV
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45 and toxoplasmosis when ventriculomegaly is detected, regardless of known exposure or

46 symptoms (GRADE 1B); we suggest that MRI be considered in cases of mild or moderate

47 fetal ventriculomegaly when this modality and expert radiologic interpretation are

48 available; an MRI is likely to be of less value if the patient has had a detailed ultrasound

49 performed by an individual with specific experience and expertise in sonographic imaging

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50 of the fetal brain (GRADE 2B); we recommend that timing and mode of delivery be based

51 on standard obstetric indications (GRADE 1C); we recommend that with isolated mild

52 ventriculomegaly of 10 mm to 12 mm, after a complete evaluation, women be counseled

53 that the outcome is favorable, and the infant is likely to be normal (GRADE 1B); we

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54 recommend that with isolated moderate ventriculomegaly of 13 mm to 15 mm, after a

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55 complete evaluation, women be counseled that the outcome is likely to be favorable but that

56 there is an increased risk of neurodevelopmental disabilities (GRADE 1B).

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57

58

59
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Key words: ventriculomegaly; hydrocephalus; fetal MRI; fetal brain; dilated cerebral ventricles
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61 Introduction

62 Ventriculomegaly is characterized by dilation of the fetal cerebral ventricles and is a relatively

63 common finding on prenatal ultrasound. Prenatally detected fetal ventriculomegaly is typically

64 categorized in one of two ways: mild (10–15 mm) or severe (>15 mm); or as mild (10–12 mm),

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65 moderate (13–15 mm), or severe (>15 mm) [1, 2]. Although mild fetal ventriculomegaly is often

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66 incidental and benign, it also can be associated with genetic, structural, and neurocognitive

67 disorders, and outcomes range from normal to severe impairment. Hydrocephalus is one cause of

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68 ventriculomegaly and is defined as pathologic dilation of the cerebral ventricular system due to

69 increased pressure, usually caused by obstruction. In general, severe ventriculomegaly is more

70
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likely to be associated with obstruction and to represent hydrocephalus than mild
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71 ventriculomegaly, which rarely represents obstruction. This consult reviews the diagnosis,

evaluation, and management of mild to moderate fetal ventriculomegaly.

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72

73
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74 How is ventriculomegaly defined?

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75 Fetal cerebral ventriculomegaly is defined as an atrial diameter of 10 mm or greater on prenatal

76 ultrasound (3-5). The atrium of the lateral ventricle is the part at which the body, posterior horn,
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77 and temporal horn converge (Figure 1); the atrial diameter remains stable between 15 and 40

78 weeks of gestation. The mean diameter of the lateral ventricle has been reported to range from
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79 5.4 mm to 7.6 mm, and a measurement of 10 mm is 2.5–4 standard deviations above the mean
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80 (3-6). An appropriately obtained sonographic measurement of <10 mm should be considered

81 normal (6). We suggest that ventriculomegaly be characterized as mild (10–12 mm),

82 moderate (13–15 mm), or severe (>15 mm) for the purposes of patient counseling, given
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83 that the chance of an adverse outcome and potential for other abnormalities are higher

84 when the ventricles measure 13–15 mm versus 10–12 mm (GRADE 2B).

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86 It is important that the lateral ventricle be measured correctly, as small differences in technique

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87 can result in false-positive or false-negative results. Substantial interobserver variability in

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88 interpretation can occur, particularly at borderline ventricular diameters (i.e., about 10 mm) [7].

89 The atrium of the lateral ventricle should be measured in the transventricular (axial) plane at the

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90 level demonstrating the frontal horns and cavum septi pellucidi, in which the cerebral

91 hemispheres are symmetric in appearance. The calipers should be positioned on the internal

92
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margin of the medial and lateral walls of the atria, at the level of the parietal-occipital groove and
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93 glomus of the choroid plexus, on an axis perpendicular to the long axis of the lateral ventricle
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94 (Figure 1; Box 1) [6].

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96 The incidence of mild to moderate fetal ventriculomegaly is approximately 1% (4, 6).

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97 Asymmetry of the lateral ventricles is common, and ventriculomegaly can be unilateral or

98 bilateral. Unilateral ventriculomegaly is present in approximately 50–60% of cases, and bilateral

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99 ventriculomegaly occurs in approximately 40–50% (8, 9). Although mild ventriculomegaly is

100 more common in male fetuses, who account for approximately 65–75% of cases, there are no
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101 data indicating that the prognosis for this finding differs by fetal sex (10, 11).
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103 What are the causes of ventriculomegaly?

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104 The differential diagnosis of ventriculomegaly is extensive and includes a normal variant as well

105 as disorders associated with severe impairment. A thorough evaluation is critical in order to

106 make the correct diagnosis and to provide an accurate prognosis.

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108 Normal variation

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109 Measurements that are closer to 10 mm are more likely to represent a normal variant, particularly

110 when isolated, and fetuses with a ventricular atrial diameter of 10 mm to 12 mm are found to

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111 have a normal postnatal evaluation in more than 90% of cases (3). Mild ventriculomegaly is

112 likely to represent a normal variant if no other structural abnormalities are noted and if

113
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aneuploidy screening or diagnostic genetic testing results are normal. The chance that mild
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114 ventriculomegaly represents a normal variant decreases with increasing degrees of dilation, and

75–93% of fetuses with moderate ventriculomegaly (lateral ventricles measuring 13–15 mm) are
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116 found to be normal after birth (1, 10, 12–14).

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117
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118 Approximately 7–10% of fetuses with apparently isolated mild ventriculomegaly are found to

119 have other structural abnormalities on examination after birth (1, 14, 15). Because it not possible
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120 to determine with certainty that mild ventriculomegaly is truly isolated during pregnancy, normal

121 variation is a diagnosis of exclusion that cannot be made with certainty until after birth.
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122
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123 Structural abnormalities

124 Ventriculomegaly can be associated with a number of underlying central nervous system (CNS)

125 abnormalities. Some structural CNS anomalies, such as holoprosencephaly, hydranencephaly,

126 porencephaly, or schizencephaly, and cystic lesions, such as arachnoid cysts, result in abnormal
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127 fluid collections in the fetal brain that may be misdiagnosed as ventriculomegaly, although these

128 anomalies do not truly represent dilation of the ventricular system.

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130 Structural abnormalities that can lead to dilation or enlargement of the lateral ventricles include

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131 agenesis of the corpus callosum, Dandy-Walker malformation), neural tube defects, cortical

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132 defects, and migrational abnormalities or heterotopia. The most common cause of severe

133 ventriculomegaly is aqueductal stenosis, which results from narrowing of the cerebral aqueduct

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134 of Sylvius located between the third and fourth ventricle leading to progressive dilatation of the

135 lateral and third ventricles (16). Aqueductal stenosis can be genetic (see below) or can result

136
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from fibrosis secondary to fetal infection (e.g. cytomegalovirus [CMV], toxoplasmosis, or Zika
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137 virus) or bleeding (e.g. intraventricular hemorrhage). In many cases, the cause of aqueductal

stenosis is unknown.
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138

139
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140 A mass or congenital tumor can also lead to compression of the aqueduct with resultant
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141 ventriculomegaly. In rare cases, a tumor or choroid plexus papilloma may result in

142 overproduction of cerebrospinal fluid with resultant ventriculomegaly (17). Large isolated
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143 choroid plexus cysts may transiently dilate the fetal cerebral ventricles. Although limited data are

144 available on outcomes of such cases, choroid plexus cysts are typically benign, and the
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145 associated mild ventriculomegaly is unlikely to be clinically significant (18).

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146

147 Infection

148 Approximately 5% of cases of mild to moderate ventriculomegaly are reported to result from

149 congenital fetal infections, including CMV, toxoplasmosis, and Zika virus (14, 19). Sporadic
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150 cases of ventriculomegaly associated with other viruses have also been reported (mumps

151 enterovirus 71 [EV71]), parainfluenza virus type 3, parvovirus B19, and lymphocytic

152 choriomeningitis virus) [20, 21]. Congenital infection may cause isolated ventriculomegaly due

153 to cerebral atrophy, aqueductal stenosis due to ependymal fibrosis, or communicating

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154 hydrocephalus due to inflammation of arachnoid granulations and excess production of

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155 cerebrospinal fluid.

156

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157 Many cases of ventriculomegaly associated with congenital infection demonstrate other

158 sonographic features, including fetal growth restriction; periventricular, hepatic, and other

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intraabdominal calcifications; echogenic fetal bowel; hepatosplenomegaly; ascites; meconium
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160 peritonitis; polyhydramnios, and microcephaly. However, these features may not be evident until

later in gestation, and not all infected fetuses will have other sonographic signs.
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163 Genetic disorders

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164 Approximately 5% of fetuses with apparently isolated mild to moderate ventriculomegaly have

165 an abnormal karyotype (22), most commonly trisomy 21. Another 10–15% have abnormal
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166 findings on chromosomal microarray (CMA) (22, 7, 9, 23).

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168 Although hydrocephalus is a component of several congenital syndromes, there are relatively
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169 few genetic causes of isolated ventriculomegaly or hydrocephalus (24). In male fetuses, the most

170 common inherited form of hydrocephalus is caused by a variant in the L1CAM gene, which

171 accounts for up to 30% of males with X-linked idiopathic hydrocephalus (25). A number of other

172 syndromes have been associated with hydrocephalus, including Walker-Warburg, Bardet-Biedl,
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173 Meckel, Joubert, and hydrolethalus syndromes (24). These conditions are typically associated

174 with more severe ventriculomegaly as well as additional abnormalities that may be identified

175 sonographically or by fetal magnetic resonance imaging (MRI) [see below].

176

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177 How should a fetus with mild or moderate ventriculomegaly be evaluated?

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178

179 When mild or moderate ventriculomegaly is detected (i.e. when the lateral ventricle(s) measure

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180 10–15 mm), further evaluation is indicated. Such evaluation is focused on determining whether

181 additional structural (CNS and non-CNS) anomalies, genetic abnormalities, or congenital

182 infection, are present.

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183

Ultrasonography
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185 The incidence of additional CNS and nonCNS sonographic abnormalities identified in fetuses
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186 with mild or moderate ventriculomegaly ranges from 10–76%, but appears to be less than 50% in
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187 most studies (1, 2, 11, 28). When ventriculomegaly is identified, a detailed ultrasound should be

188 performed by a practitioner experienced in the diagnosis of fetal anomalies. Careful attention
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189 should be given to intracranial anatomy including the lateral, third, and fourth ventricles; corpus

190 callosum; thalami; germinal matrix region; cerebellum; and the cerebellar vermis.
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191 Ventriculomegaly is a non-specific finding and careful attention to all fetal anatomic structures,
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192 both CNS and nonCNS, is important. The fetal heart should be carefully examined, and fetal

193 biometry should be assessed for evidence of growth restriction. Finally, a thorough inspection

194 should be performed for signs of fetal infection, including intracranial or extracranial

195 calcifications, hepatosplenomegaly, ascites, and fetal growth restriction.

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196

197 Testing for aneuploidy

198 Fetal aneuploidy and copy number variants are both associated with mild ventriculomegaly. We

199 recommend that diagnostic testing (amniocentesis) with CMA should be offered, when

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200 ventriculomegaly is detected (GRADE 1B). Aneuploidy screening, including cell-free DNA

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201 testing, screens for only a limited number of the most common fetal aneuploidies. Screening

202 assesses the risk for trisomy 21, 18, and 13 but not for other potentially important chromosomal

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203 abnormalities or other genomic variants. Cell-free DNA screening can be considered for women

204 who decline diagnostic testing after counseling about the limitations of this approach. In women

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with prior normal screening test results, including cell free DNA, diagnostic testing should still
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206 be offered due to the higher diagnostic yield.
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208 Testing for fetal infectious etiologies

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209 Congenital fetal infections, including most commonly cytomegalovirus, toxoplasmosis, and Zika
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210 virus, have been associated with mild ventriculomegaly, and a history of potential exposures and

211 symptoms of maternal infection should be elicited. The woman's history should be reviewed for
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212 symptoms suggestive of CMV infection, and exposure to potential sources of toxoplasmosis

213 (e.g., outdoor cats, gardening, consumption of undercooked meat) and Zika virus should be
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214 assessed (26, 27). We recommend testing for CMV and toxoplasmosis when
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215 ventriculomegaly is detected, regardless of known exposure or symptoms (GRADE 1B).

216 Testing can include maternal serology or polymerase chain reaction (PCR) on amniotic fluid.

217 Because the latter is more accurate, we recommend that PCR for CMV and toxoplasmosis be

218 included when amniocentesis is performed and be offered to women during counseling regarding
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219 the benefits of diagnostic testing. For women with risk factors for Zika virus, testing is

220 recommended per current guidelines, which are rapidly evolving.

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222 For women who decline amniocentesis, serum testing for CMV includes IgG and IgM, as does

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223 screening for toxoplasmosis. Negative IgG and IgM results for CMV and toxoplasmosis suggest

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224 no prior exposure, which excludes these infections as the cause of ventriculomegaly; a positive

225 IgG and negative IgM results suggest prior infection and immunity, making congenital infection

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226 unlikely as the cause of ventriculomegaly. In women with a positive CMV IgM result, IgG

227 avidity testing is recommended; a low avidity IgG and positive IgM indicates infection within

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the previous 3 months (29, 30). A positive toxoplasmosis IgG and IgM result may indicate a
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229 recent infection or a false- positive result. A positive IgM toxoplasmosis antibody result should

be followed by IgG avidity testing and repeat IgM testing in a reference laboratory. As with
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231 CMV, high avidity IgG suggests that infection predates the pregnancy. In contrast, low avidity
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232 toxoplasmosis IgG is more difficult to interpret, because some individuals have persistent low
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233 IgG avidity for many months after infection (31).

234
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235 For women who undergo amniocentesis, the amniotic fluid should be tested by PCR for CMV

236 and toxoplasmosis. Amniocentesis with PCR performed before 21 weeks of gestation has a 45–
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237 80% sensitivity for CMV; therefore, a negative result does not exclude CMV infection.
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238 PCRperformed on amniotic fluid after 21 weeks of gestation or more than 6–7 weeks from

239 maternal primary infection has a higher sensitivity and a specificity between 97– and 100%. The

240 positive predictive value of the test approaches 100% (32–34), although false-positive CMV by

241 PCR results have been reported (32). PCR for toxoplasmosis performed on amniotic fluid has a
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242 sensitivity of 64%, negative predictive value of 87%, and positive predictive value of nearly

243 100% (35).

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245 A detailed travel history should be included in the evaluation of ventriculomegaly. For women

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246 with a history of travel to any Zika-endemic area, testing according to the Centers for Disease

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247 Control guidelines is recommended (36). The prevalence of Zika infection in women with mild

248 fetal ventriculomegaly but no known exposure to Zika virus is unknown, but it is likely that Zika

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249 is very rare in such cases, and therefore testing is not routinely recommended. The diagnostic

250 accuracy of serum or amniotic fluid PCR for Zika virus infection is also unknown at this time

251 (37).
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252

What is the role of fetal magnetic resonance imaging (MRI)?

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254 Fetal MRI can be useful in the evaluation of ventriculomegaly because this modality can identify
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255 significant abnormalities not easily detected by ultrasound (38–40). Diagnoses such as cortical
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256 malformations and migrational abnormalities are rarely detected by ultrasound but can be

257 associated with mild or moderate ventriculomegaly and identified by MRI (41).
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259 In the setting of ventriculomegaly, the chance that MRI will identify additional abnormalities
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260 varies widely and ranges from 5% to 50% in reported series. The added value of MRI depends in
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261 part on the degree of ventricular dilation, as well as on the quality of the original ultrasound and

262 whether a detailed neurosonography examination was performed by a provider with specific

263 expertise (2, 38–49). Not all additional findings are clinically significant or change the

264 counseling regarding prognosis; the incidence of important additional findings detected by MRI
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265 in fetuses with mild or moderate ventriculomegaly has been reported to range from 1% to 14%

266 (45, 46). The most common abnormality detected on MRI but missed on fetal ultrasound is

267 agenesis of the corpus collosum (2); this diagnosis is associated with a variable prognosis from

268 subtle to severe and depends in part on other associated brain abnormalities.

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269

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270 MRI is most useful after 22 to 24 weeks of gestation, as milestones of CNS development become

271 more evident with advancing gestation. MRI is generally not useful in cases of fetal aneuploidy,

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272 as the neurologic outcome is almost certainly abnormal regardless of the results of the imaging

273 test. However, MRI may be of benefit in assessing the extent of destructive injury in fetuses with

274
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known infection, hemorrhage, or ischemia, and when other sonographically evident CNS
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275 malformations, such as agenesis of the corpus callosum or Dandy-Walker malformation, are

present.
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276

277
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278 Confirmation that mild ventriculomegaly is isolated increases the likelihood that long-term
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279 neurodevelopment will be normal, and identification of other CNS malformations makes it more

280 likely that the fetus will have neurologic abnormalities, including developmental delay.
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281 However, there is no consensus regarding the clinical utility of MRI in this setting, which also

282 depends on the expertise of the examining sonologist (45). In addition, the availability of fetal
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283 MRI varies geographically and is often institutionally dependent. Nevertheless, given the
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284 potential for detection of clinically important fetal CNS abnormalities, we suggest that MRI be

285 considered in cases of mild or moderate fetal ventriculomegaly when this modality and

286 expert radiologic interpretation are available; an MRI is likely to be of less value if the

287 patient has had a detailed ultrasound performed by an individual with specific experience
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288 and expertise in sonographic imaging of the fetal brain (GRADE 2B). It is important to note

289 that the width of the lateral ventricle is often slightly larger when measured by MRI, and the

290 ultrasound measurement should be used for prognosis and counseling (50).

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292 What is the appropriate antenatal management of a pregnancy after the detection of mild

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293 to moderate ventriculomegaly?

294 Follow-up ultrasound after initial detection of fetal ventriculomegaly is helpful to assess

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295 progression, stability, or resolution. Ventricular dilation is progressive in approximately 16% of

296 cases; evidence of progression can change both the diagnosis and prognosis (10). Conversely, if

297
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the ventriculomegaly remains stable or resolves, the prognosis generally improves (1, 11). The
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298 optimal timing and frequency of follow-up ultrasound examinations in the setting of mild to

moderate ventriculomegaly is dependent on the initial gestational age at diagnosis as well as

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300 other clinical factors. Multiple serial exams are unlikely to be helpful if an initial follow-up
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301 ultrasound demonstrates stable findings, while a follow-up ultrasound in the third trimester to
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302 assess head circumference and rule out significant progression is reasonable.

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304 Women should receive counseling from a health care provider, such as an obstetrician,

305 radiologist, maternal-fetal medicine specialist, genetic counselor, or a pediatric neurologist or

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306 neurosurgeon with specific expertise in the prenatal diagnosis and prognosis of fetal
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307 ventriculomegaly. Women should be informed that the prognosis varies widely based on the

308 exact findings of the complete pre- and postnatal evaluation. If ventriculomegaly is progressive,

309 consultation with a pediatric neurosurgeon may be useful, as some neonates may require
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310 postnatal surgical intervention, such as ventriculoperitoneal shunting. Overall, the likelihood of

311 mild to moderate ventriculomegaly requiring surgical intervention after birth is low.

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313 Antepartum fetal testing is not likely to be beneficial in the setting of mild to moderate

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314 ventriculomegaly, as this abnormality is not typically associated with placental insufficiency,

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315 unless other abnormalities such as fetal growth restriction or amniotic fluid abnormalities are

316 present.

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317

318 What is the optimal timing and mode of delivery for fetuses with ventriculomegaly?

319
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There is no evidence that preterm or cesarean delivery improves maternal or neonatal outcomes
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320 in the setting of mild to moderate ventriculomegaly. Macrocephaly is rare, and we recommend

that timing and mode of delivery be based on standard obstetric indications (GRADE 1C).
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322 Given the potential for mild to moderate ventriculomegaly to be associated with long-term
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323 adverse neurodevelopmental outcomes, the primary pediatrician should be made aware of this
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324 prenatal finding.

325
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326 What is the prognosis for infants with mild ventriculomegaly?

327 The prognosis for infants with mild to moderate ventriculomegaly is widely variable and
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328 depends on the presence or absence of structural or genetic abnormalities, fetal infection, and the
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329 severity of ventricular dilation. If the ventriculomegaly is mild and isolated, the outcome is most

330 commonly normal. In a recent meta-analysis, the rate of neurodevelopmental delay in truly

331 isolated mild ventriculomegaly was 7.9%, which is similar to the background rate (15).
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332 Importantly, however, postnatal imaging revealed previously undiagnosed findings, some of

333 which would impact prognosis, in 7.4% of patients.

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335 Outcome data, particularly long-term neurocognitive outcomes, are limited by the heterogeneous

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336 nature of the studies, differences in prenatal and postnatal evaluation, inclusion or exclusion of

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337 children with other abnormalities, and the duration of pediatric follow-up. With these limitations

338 in mind, current evidence suggests the following regarding prognosis:

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340 Isolated mild ventriculomegaly (10–12mm)

341
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Survival for newborns with isolated mild ventriculomegaly is high, with reported rates of
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342 approximately 93–98% (1, 11, 51). The likelihood of normal neurodevelopmental outcomes is

greater than 90% (1, 10, 15) and may not be different from general population rates. We
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344 recommend that with isolated mild ventriculomegaly of 10 mm to 12 mm, after a complete
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345 evaluation, women be counseled that the outcome is favorable, and the infant is likely to be
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346 normal (GRADE 1B).

347
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348 Isolated moderate ventriculomegaly (13–15mm)

349 Newborns with prenatal detection of isolated moderate ventriculomegaly are somewhat more
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350 likely to have adverse outcomes than those with mild ventriculomegaly. Survival for newborns
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351 with isolated moderate ventriculomegaly is reported to range from 80% to 97% (1, 51), and the

352 likelihood of normal neurodevelopmental outcomes is reported to range from 75% to 93% (1, 11,

353 51). We recommend that with isolated moderate ventriculomegaly of 13 mm to 15 mm,

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354 after a complete evaluation, women be counseled that the outcome is likely to be favorable

355 but that there is an increased risk of neurodevelopmental disabilities (GRADE 1B).

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357 In the setting of mild to moderate ventriculomegaly with associated abnormalities, the prognosis

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358 primarily depends on the specific abnormality rather than the degree of ventricular dilation (51).

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359 Outcomes are also associated with progression, and in cases in which ventriculomegaly

360 progresses, the rate of adverse outcomes is reported to be as high as 44%, while outcomes are

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361 normal in over 90% of cases in which ventriculomegaly improves (10). Recurrence risk of

362 isolated ventriculomegaly in future pregnancies in most cases is low. In cases with an underlying

363
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cause, such as a chromosomal or genetic condition, the recurrence risk will depend on the
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364 specific diagnosis.
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365

366 Summary
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367 When ventriculomegaly is identified, a thorough evaluation should be performed including

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368 detailed sonographic evaluation of fetal anatomy, amniocentesis for assessment of chromosomal

369 abnormalities, and a workup for fetal infection. Fetal MRI may identify other abnormalities and
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370 can be considered when such imaging and expert interpretation are available, although MRI is

371 not likely to add useful diagnostic information beyond that obtained with detailed
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372 neurosonography by a provider with specific experience and expertise. Follow-up ultrasound
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373 examination should be performed to assess for progression of the ventricular dilation. In the

374 setting of isolated mild ventriculomegaly (10–12 mm), the likelihood of survival with normal

375 neurodevelopment is greater than 90%.

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377 Summary of Recommendations

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378

Number Recommendations GRADE

1 We suggest that ventriculomegaly be characterized 2B
Weak recommendation,
as mild (10–12 mm), moderate (13–15 mm), or

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moderate-quality
severe (>15 mm) for the purposes of patient
evidence
counseling, given that the chance of an adverse

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outcome and potential for other abnormalities are

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higher when the ventricles measure 13–15 mm

versus 10–12 mm.

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2 We recommend that diagnostic testing 1B
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Strong recommendation,
(amniocentesis) with CMA should be offered,
moderate-quality
when mild ventriculomegaly is detected.
evidence
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3 We recommend testing for CMV and 1B

Strong recommendation,
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toxoplasmosis when ventriculomegaly is detected,

low-quality evidence
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regardless of known exposure or symptoms.

4 We suggest that MRI be considered in cases of 2B

EP

Weak recommendation,
mild or moderate fetal ventriculomegaly when this
moderate-quality
modality and expert radiologic interpretation are
evidence
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available; an MRI is likely to be of less value if the

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patient has had a detailed ultrasound performed

by an individual with specific experience and

expertise in sonographic imaging of the fetal brain

5 We recommend that timing and mode of delivery 1C

Strong recommendation,
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be based on standard obstetric indications. low-quality evidence

6 We recommend that with isolated mild 1B

Strong recommendation,
ventriculomegaly of 10 mm to 12 mm, after a
moderate-quality
complete evaluation, women be counseled that the

PT
evidence
outcome is favorable, and the infant is likely to be

RI
normal.

7 We recommend that with isolated moderate 1B

SC
Strong recommendation,
ventriculomegaly of 13 mm to 15 mm, after a
moderate-quality
complete evaluation, women be counseled that the

U
evidence
outcome is likely to be favorable but that there is
AN
an increased risk of neurodevelopmental
M

disabilities.

379
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380
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381
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382 References

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404 9. Griffiths PD, Brackley K, Bradburn M, et al. Anatomical subgroup analysis of the

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494 42. Benacerraf BR, Shipp TD, Bromley B, Levine D. What does magnetic resonance imaging

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502 45. Parazzini C, Righini A, Doneda C, et al. Is fetal magnetic resonance imaging indicated when

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508 competition. Ultraschall Med. 2016 Dec;37(6):555-557. Epub 2016 Dec 15.

509 48. Paladini D, Quarantelli M, Sglavo G, Pastore G, Cavallaro A, D'Armiento MR, Salvatore M,
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510 Nappi C. Accuracy of neurosonography and MRI in clinical management of fetuses referred

511 with central nervous system abnormalities. Ultrasound Obstet Gynecol. 2014 Aug;44(2):188-
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512 96.
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514 imaging: a comparison between magnetic resonance imaging and dedicated

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516 50. Behrendt N, Zaretsky MV, West NA, Galan HL, Crombleholme TM, Meyers ML.
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517 Ultrasound versus MRI: is there a difference in measurements of the fetal lateral ventricles? J

518 Matern Fetal Neonatal Med 2017 Feb;30(3):298-301.

519 51. Beeghly M, Ware J, Soul J, et al.

520 Neurodevelopmental outcome of fetuses referred for ventriculomegaly. Ultrasound Obstet

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521 Gynecol 2010 Apr;35(4):405-16.

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525 Figure 1. Normal fetal brain in the transventricular (axial) plane, demonstrating correct

526 technique for measurement of the lateral ventricle (see Box 1). [Photo courtesy of Alfred

527 Abuhamad, MD.]

528 CSP, cavum septi pellucidi

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532 Box 1. Critieria for Appropriate Measurement of Lateral Cerebral Ventricle

533 1. Head is in the axial plane

534 2. Image is magnified appropriately, so that fetal head fills the majority of the image

535 3. Focal zone is at the appropriate level.

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536 4. Cerebral ventricles are symmetric in appearance.

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537 5. Midline falx is imaged.

538 6. Atrium and occipital horn of lateral ventricle are clearly imaged.

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539 7. Atrium of lateral ventricle is measured at the level of parientooccipital groove.

540 8. Calipers are placed on medial and lateral walls of atrium perpendicular to the long axis of the

541 ventricle.
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