Gianluigi Pilu

Cerebellar measurements with ultrasonography in the evaluation of fetal growth and development

A prospective study of ultrasonography was conducted in 371 normal pregnant women, with gestational ages ranging from 13 weeks to 40 weeks. Several biometric measurements were obtained including the transverse cerebellar diameter, the biparietal diameter, the occipitofrontal diameter, and the calculated head circumference. Curvilinear relationships were found between the transverse diameter of the cerebellum (measured in millimeters), and the gestational age (R2 = 0.948; P = 0.001), the biparietal diameter (R2 = 0.956; P = 0.0001), and the head circumference (R2 = 0.969; P = 0.0001). A nomogram of cerebellar measurements estimating gestational age and predicting the biparietal diameter and head circumference was generated. Throughout pregnancy the establishment of normative cerebellar measurements allows for the estimation of gestational age that is independent of the shape of the fetal head and offers potential for evaluation of abnormal fetal growth and anomalous development of the central nervous system.

Congenital heart disease and extracardiac anomalies: Associations and indications for fetal echocardiography

Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.

Fetal cerebellar growth unaffected by intrauterine growth retardation: A new parameter for prenatal diagnosis

Nineteen pregnant women with a clinical suspicion of intrauterine growth retardation and with gestational age confirmed by early ultrasound examination were referred to our departments for sonographic evaluations. Multiple biometric parameters were obtained, including the transverse cerebellar diameter by use of the electronic calipers of the machine. A prenatal diagnosis of intrauterine growth retardation was made in all cases based on: (1) the transverse cerebellar diameter being consistently correlated with gestational age as predicted by the last menstrual period, whereas most of the other measurements were consistently discrepant with the transverse cerebellar diameter by more than 2.5 weeks (i.e., more than 2 SD above the mean), and (2) the estimated fetal weight of all fetuses being equal to or less than the tenth percentile for gestational age. Neonatal examination confirmed all fetuses to be growth retarded with birth weights at or below the tenth percentile for gestational age. These findings indicate that growth of the transverse cerebellar diameter is unaffected by intrauterine growth retardation; thus this sonographic measurement may serve as an independent and reliable correlate of gestational age against which potential deviations of growth may be compared.

Prenatal diagnosis of craniofacial malformations with ultrasonography.

Although the utility of ultrasound in the prenatal diagnosis of many congenital anomalies is well established, its accuracy in detecting craniofacial malformations has not been examined in a large series. Sonographic examinations of 223 patients at risk for fetuses with craniofacial malformations were performed between 18 and 40 weeks. The risk factors included a familial history of craniofacial malformations, extrafacial anomalies diagnosed on ultrasound, fetal chromosomal aberrations, and maternal drug intake. Sonographic diagnosis was possible in 151 (67.7%) patients on the first scan and in 47 (21.1%) patients on the second scan and was not possible in 25 patients (11.2%). Of the 198 cases diagnosed antenatally, craniofacial malformation was detected in 14 and confirmed postnatally. No false positive diagnoses were made. A negative diagnosis of craniofacial malformation was made in 184 cases with two false negative results (1.0%). Anomalies diagnosed sonographically included anophthalmia, anterior cleft lip and/or palate, hypotelorism, hypertelorism, and micrognathia. The results of this study demonstrate that ultrasound is an accurate and reliable tool for the prenatal diagnosis of craniofacial malformations.

The clinical significance of prenatally diagnosed choroid plexus cysts

The choroid plexus cyst is one of many malformations of the central nervous system that can be detected in utero by ultrasonography. Choroid plexus cysts occur in 2.3% of fetuses. Because previous reports have shown an association between choroid plexus cysts and chromosomal anomalies, we analyzed 82 prenatally diagnosed cases, 65 of whom had chromosome analysis performed. Of the group, 6.2% had chromosomal anomalies of the trisomy 18 type. The remaining 17 cases were clinically normal at birth. These cases of trisomy 18 were also associated with multiple structural anomalies. Therefore, we suggest that after the diagnosis of choroid plexus cysts is made, a complete ultrasonographic survey of the fetal anatomy be performed. Fetal karyotype determination may be offered to patients, especially in the presence of structural anomalies.

The prenatal diagnosis of robin anomalad

The Robin anomalad was diagnosed by the sonographic detection of polyhydramnios and fetal micrognathia in a patient at risk because of a previously affected child. Ultrasound in the second trimester failed to demonstrate any facial anomaly, but mandibular hypoplasia was clearly documented in the third trimester. The antenatal diagnosis allowed immediate neonatal assistance to prevent glossoptosis-induced respiratory failure.

Intracranial Hemorrhage, Cysts, Tumors, and Destructive Lesions

Abstract Destructive cerebral lesions are the result of an insult to a normally developed fetal brain. The most common causes are hemorrhage, hypoxia-ischemia, and infections. However, the pathophysiology is unclear in many cases. The prognosis is usually poor. This chapter describes the main features of fetal intracranial destructive lesions, including intracranial hemorrhages, porencephaly, hydranencephaly, and schizencephaly. Other intracranial lesions that develop late in gestation, including intracranial cysts and intracranial tumors, are also described.