Wayne H. Persutte

Ultrasonographic assessment of intestinal damage in with gastroschisis: Is it of clinical value?

In cases of gastroschisis detected prenatally it has been proposed that ultrasonographic criteria may play an important role in the decision for early delivery. We evaluated five cases of gastroschisis diagnosed before birth and found a correlation between prenatally detected small bowel dilatation and severe intestinal damage. However, from the limited data available these in utero measurements seem to be ineffective as indicators for delivery intervention (1) because not all fetuses with bowel dilatation have postnatal evidence of intestinal damage, (2) because some infants with intestinal damage and a poor postnatal outcome may show no in utero evidence of bowel dilatation, (3) because initial bowel dilatation may occur before a gestational age when lung maturity is achieved, and (4) because, in those cases in which bowel dilatation did correlate with intestinal damage, the bowel was already beyond the point of salvage and the infant required bowel resection.

In utero diagnosis of benign fetal macrocephaly

Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.

Prenatal ultrasonographic appearance of the agnathia malformation complex

Ultrasonographic imaging has been proven to be useful in the prenatal diagnosis of various craniofacial and neurologic malformations. With the widespread application of ultrasound, an increasing number of rare anomalies are being appreciated in utero. Recently, we evaluated a fetus with agnathia, a total or virtual absence of the mandible. Agnathia is an extremely rare and lethal malformation in humans. It is thought to be a developmental field defect resulting from an insult to the neural crest anlagen. Association with various other craniofacial and neurologic anomalies including holoprosencephaly, midline craniofacial defects, situs inversus, and visceral anomalies may represent a polytopic field defect. To date, the prenatal ultrasonographic presentation of agnathia has never been reported. The purpose of this report is to correlate the prenatal ultrasonographic findings and the postnatal pathologic findings in a fetus with the most severe and rarest variant of the agnathia malformation complex (AMC), namely, agnathia asso· ciated with hydranencephaly, holoprosencephaly, situs inversus, and visceral abnormalities.

Single Fetal Umbilical Artery: A Case Report Illustrating a Potential Pitfall in the Diagnosis

An interesting variant of single fetal umbilical artery that presented with intermittent cord segments of three patent vessels is described. The ultrasound findings and clinical significance of the case are also discussed.

Antenatal Sonographic Identification of Choroid Plexus Cysts Two Case Reports and Literature Review

Two cases of choroid plexus cysts detected antenatally with ultrasonography are described. The first case involved an 18-week fetus with a 10 mm unilateral bilocular anechoic mass in the glomus of the choroid plexus. This mass resolved by ultrasonic examination at 23 weeks gestation. The second case presented at 21 weeks gestation with a unilateral anechoic mass in the choroid glomus of the left lateral ventricle. A 410 g female still-born was delivered 2 days following the initial examination. Histopathologic examination of the fetus revealed an 8 mm ependymal cyst. The significance of choroid plexus cysts is poorly understood. Some researchers have reported these cysts to be entirely benign while others report an association with chromosome defects. Review of the current literature revealed a 9.5% incidence of chromosome defects in fetuses with choroid plexus cysts.