The significance of fetal ventriculomegaly: etiology,short- and long-term outcomes

Fetal cerebral ventriculomegaly (VM) is diagnosed when the width of one or both ventricles, measured at the level of the glomus of the choroid plexus (atrium), is ≥ 10 mm. VM can result from different processes: abnormal turnover of the cerebrospinal fluid (CSF), neuronal migration disorders, and destructive processes. In a high percentage of cases, it is associated with structural malformations of the central nervous system (CNS), but also of other organs and systems. The rate of associated malformations is higher (≥60%) in severe VM (>15 mm) and lower (10–50%) in cases of borderline VM (10–15 mm). When malformations are not present, aneuploidies are found in 3–15% of borderline VM; the percentage is lower in severe VM. The neurodevelopmental outcome of isolated VM is normal in > 90% of cases if the measurement of ventricular width is between 10 and 12 mm; it is less favorable when the measurement is > 12 mm. Copyright © 2009 John Wiley & Sons, Ltd.     

Isolated mild fetal cerebral ventriculomegaly: a retrospective analysis of 26 cases

We retrospectively studied 26 fetuses with isolated mild cerebral ventriculomegaly diagnosed between 1992 and 1998 and defined by a lateral ventricular atrial diameter of 10–15 mm without any other cerebral anomaly. Our objectives were to determine maternal risk factors, to evaluate complementary investigations, to assess developmental prognosis and to propose possible management. During pregnancy 10/26 patients had regressive ventriculomegalies, ten remained borderline at birth and six were confirmed postnatally. No maternal risk factors were identified. Prenatal investigations were carried out in 69% of cases but in only a few cases supplied any information. Postnatal examinations revealed one case of Down syndrome and one of porencephaly. Four children were lost to follow-up. In the 22 other cases, four had developmental delay. Early and unexplained mild ventriculomegaly appears to have a good prognosis. If ventriculomegaly is persistent, prenatal management should be carried out to investigate chromosomal abnormalities, viral infection, and fetal cerebral parenchymal damage. A long postnatal clinical follow-up is required. Copyright © 2001 John Wiley & Sons, Ltd.     

Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly

The Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly.     

Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly

A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Unusual prenatal presentation of Beckwith–Wiedemann syndrome

When Beckwith–Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal sonographic diagnosis of Malpuech syndrome

Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Copyright © 2006 John Wiley & Sons, Ltd.     

Ultrasound in prenatal diagnosis: polemics around routine ultrasound screening for second trimester fetal malformations

Ultrasound for routine fetal malformation screening has been polemical from its early beginning because of the very broad range of diagnosis rates disclosed, i.e. from 13% to 82%, average 27.5%. A review of available studies is proposed to assess objectively the efficacy of ultrasound, considering also economical, ethical and methodological aspects as influential factors for choosing a routine screening policy. The utility of fetal malformation diagnosis before birth is brought forward, including second opinion, karyotyping, poly-disciplinary case discussion prior to management. Method and material of reviewed studies considerably vary and might influence the sensitivity results, as the choice of the population sample and selection of pregnant women, gestation age at screening, distribution of malformation among systems or tracts, exclusion of some fetal malformation and the routine practice of autopsy. Efficiency of screening studies is compared, and among them Radius and Eurofetus studies. Average sensitivity is finally considered as satisfactory in the daily practice when operated by trained personnel. The importance of additional factors for successful screening are emphasized such as education, equipment quality and fetal ultrasound examination at different gestation age for a better understanding of natural history of fetal morphology. Copyright © 2002 John Wiley & Sons, Ltd.     

Macrocephaly–cutis marmorata telangiectatica congenita syndrome—prenatal signs in ultrasonography

A new case of macrocephaly–cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly with no indications of maternal hyperglycemia or fetal hyperinsulinism. Our patient also had unilateral pleural effusion, curved femur and frontal bossing. Copyright © 2005 John Wiley & Sons, Ltd.     

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.     

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright © 2001 John Wiley & Sons, Ltd.