Sonographic demonstration of fetal sacrococcygeal teratoma

Six cases of sonographically diagnosed fetal sacrococcygeal teratoma (SCT) are presented and illustrate the variable features of fetal SCT. The sonographic findings assisted the parents and perinatal team in making decisions, and in two of the cases the children survived after elective Cesarean section and prompt neonatal resection of the tumors. None of the patients showed signs of malignant degeneration of the teratoma or metastases. Fetal SCT no longer should be considered a uniformly fatal condition. The literature on sacrococcygeal teratoma detected after birth indicates that the mortality rate is correlated with the degree of extension of the tumor. Therefore, the classification of sonographically diagnosed fetal SCT according to its size and position is important for decisions regarding pregnancy management.     

Prenantal diagnosis of X-linked hydrocephaly

A case of X-linked hydrocephaly is presented. Early second trimester evaluation of the size of the lateral cerebral ventricles resulted in onemale fetus cfontinuing further normal developmentand one male fetus being abroted because of progressive hydrocephaly. The affected fetus was characterized by cerebral ventricular dilation without aqueductal stenosis. This case history shows the feasibility of early monitoring of pregnancies at risk of X-linked hydrocephaly. In some cases, ventricular enlargement rather than aqueductal stenosis may be the primary lesion.     

Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography

Ultrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X-ray changes of OI.     

In utero ultrasonographic features of campomelic dysplasia

A prenatal diagnosis of campomelic dysplasia in a primigravida is described. First level fetal ultrasonography demonstrated bowing and shortening of lower limbs. Second level examination allowed the correct diagnosis by demonstrating several skeletal anomalies pathognomonic of campomelic dysplasia.     

First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography

Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the α2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.     

Oral teratoma (epignathus) with intracranial extension: A report of two cases

Epignathi are unusual congenital tumours presenting as oropharyngeal masses, often resulting in rapid asphyxia following birth. Occasionally, intracranial extension of the tumour is present, and two such cases are described. The presence of this complication, diagnosable by ultrasound examination, indicates that aggressive surgical treatment is inappropriate.     

Prenatal diagnosis of lissencephaly

We report two cases of prenatal detection of lissencephaly by high-resolution ultrasound. The first case studied was referred for high-risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality. Diagnosis of a smooth gyral pattern consistent with lissencephaly was made at 32 weeks' gestation. The second case was referred for prenatal ultrasound because of a size versus dates discrepancy. The ultrasound examination showed a smooth gyral pattern at 31.5 weeks. In light of this ultrasound finding, a fetal blood sample was obtained and a chromosomal abnormality reported, confirming the diagnosis. To our knowledge, these cases represent the first report of the sonographic prenatal diagnosis of cerebral agyria or lissencephaly.     

Women's opinions on the offer and use of prenatal diagnosis

We have studied the opinions and attitudes of women towards prenatal diagnosis (amnio-centesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedures, especially if treatable abnormalities can be detected. Younger women and women with a high level of education were less inclined to make use of prenatal diagnosis. If tests were made more widely available, this might lead to a significant increase in the use of prenatal diagnosis.     

Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography

Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha- fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.     

The importance of late pregnancy scans for renal tract abnormalities

A 12-month prospective population study of antenatal patients was undertaken in a large district general hospital to assess ultrasound scanning in late pregnancy for the detection of non-lethal fetal renal abnormalities. The rate of false-negative antenatal scans during the study period was also assessed. Both 18–20 and 28–32 weeks' gestational scans were performed on 6497 pregnant women. Forty fetuses with a suspected abnormality were referred for postnatal examination and 29 neonates were found to have renal abnormalities. Of these, 21 were significant and eight were likely to be extrarenal pelves. In six, there was evidence of an abnormality at the early scan. Nine children, seven with reflux, presented within the study period, all with preceding normal antenatal scans. The incidence (0·46 per cent) of structural renal abnormalities is similar to that reported previously. A late scan is necessary for the antenatal detection of non-lethal renal abnormalities.