Sonographic depiction of fetal tooth germs

Recently, sonography of the fetal face has gained increasing importance in prenatal diagnosis. It is not yet clear whether sonographic depiction of fetal tooth germs would have an influence on the prenatal diagnosis of ectodermal dysplasia syndromes. During routine malformation screening, horizontal sections of fetal jaws were visualized and examined for tooth germs in 124 pregnant women following sonographic ‘facing’. Histological jaw sections of fetuses that had died in utero at various gestational ages were produced in order to examine the degree of correspondence between the sonographic and histological findings. At least four tooth germs were found in the jaws of all fetuses between 19 and 34 gestational weeks (n=104). Although jaw visualization was possible between 14 and 18 gestational weeks (n=20), the exact number and location of the tooth germs could not be determined. Assessment of tooth germs may become increasingly important, as aplasia of the tooth germs is one of the principal signs of various hereditary ectodermal diseases.     

An association between fetal abdominal wall defects and elevated levels of human chorionic gonadotropin in mid-trimester

We analysed maternal serum human chorionic gonadotropin (hCG) in 16 pregnancies with fetal abdominal wall defects previously identified prenatally by elevated maternal serum alpha-fetoprotein (AFP) or at birth. The AFP levels had a mean of 6·38 MOM (range 0·34–15·65), as expected with these defects. The hCG levels had a mean of 1·82 MOM (range 0·23–4·11). The hCG levels in five pregnancies (31·25 per cent) were above 2·30 MOM. Elevated levels of hCG may be associated with fetal abdominal wall defects.     

Anencephaly in a fetus with osteogenesis imperfecta: Early diagnosis by transvaginal sonography

Early prenatal diagnosis of osteogenesis imperfecta at 14 weeks' gestation by transvaginal sonography is reported. An anencephalic fetus was found at autopsy, although on sonographic examination complete brain tissue had been observed. A possible explanation for these findings and theories on the pathogenesis of anencephaly are discussed.     

Preterm delivery rate and fetal outcome in structurally affected twin pregnancies: A retrospective matched control study

Data from 23 twin pregnancies with one structurally affected fetus were compared with data from 23 twin pregnancies with proven absence of structural fetal anomalies and matched for maternal age, parity, and year of delivery. The preterm delivery rate ( < 37 weeks) was high in both groups but not significantly different (57 vs. 48 per cent). Perinatal mortality was significantly higher in the structurally affected twin pregnancies (65 vs. 9 per cent). In the affected twins, birth weight of the anomalous fetus was significantly lower than that of the normal co-twin. Since there was no difference in the incidence of maternal disease (hypertensive disorders, diabetes), it was concluded that the higher perinatal mortality was determined mainly by the nature of the anomaly and not by the preterm delivery rate.     

β-Glucuronidase activity in mouse oocytes,mouse preimplantation embryos,and human gametes

A microfluorimetric assay was designed to monitor β-glucuronidase (β-gluc) activity during the early development of mouse embryos and was also applied to measure β-gluc activity in human sperm cells and single human oocytes. Mouse oocytes and preimplantation embryos at different stages of development, failed fertilized human oocytes, and human sperm cells were collected, and β-gluc activity was analysed. In the mouse, β-gluc activity could be measured starting from the morula stage on in a pooled sample of 15 embryos and at blasto-cyst formation in one single embryo. β-Gluc activity was low in human sperm cells. The enzyme could be readily demonstrated in 87 per cent of non-fertilized human oocytes. Considerable variation in β-gluc activity was noticed between individual oocytes.     

Congenital generalized cystic lymphangiomatosis diagnosed by prenatal ultrasound

We describe a previously unknown congenital abnormality of the lymphatic system, characterized by multiple cystic lesions of the lower extremities and thorax. Diagnosis was made by ultrasound in the second trimester. The ultrasound findings, pathology results, and differential diagnosis are presented.     

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.     

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.     

Neonatal form of the hyperornithinaemia,hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis

We describe here the first case of neonatal death due to the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and the first prenatal diagnosis of this disorder in a subsequent pregnancy in this family.     

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.