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[Prenatal diagnosis of severe neural tube defect in negative biochemical findings].

With reference to a case of occipital encephalocele associated with iniencephaly diagnosed by ultrasonography in the 20th week of pregnancy, the diagnostic problems of craniospinal defects, factors influencing prognosis and clinical consequences are described. Even when results of biochemical tests are negative, minute neural canal defects can be diagnosed early by ultrasonography. In the authors' opinion an ultrasonographic diagnosis of encephalocele represents an indication for termination of pregnancy, in view of the poor prognosis.

Abnormalities, Multiple↗

Prenatal diagnosis of neural tube defects: origin of midtrimester vertebral ossification centers as determined by sonographic water-bath studies.

A normal vertebral column was removed from a 17-week stillborn fetus and suspended in a water bath. The specimen was sequentially dissected, with spinous processes, transverse processes, and remaining neural arch removed. After dissection, each specimen was imaged by ultrasound in axial, sagittal, and coronal planes. The resultant images clearly demonstrated the origin of the three ossification centers as one at each lamina-pedicle junction and one in the vertebral body. Corollary X-ray studies confirmed the ultrasound findings and, in a case of open spina bifida, demonstrated the superiority of sonography for making this diagnosis.

Female↗

The present status of prenatal detection of neural tube defects.

In experimentally induced myelocele in rats, efforts to find neural cells in amniotic fluid (AF) were unsuccessful. Creatine phosphokinase (CPK) and aldolase concentrations studied in serum of 118 and cerebrospinal fluid (CSF) in 9 patients with myelomeningocele showed serum CPK to be significantly elevated and more responsive to additional muscle injury than aldolase, but both enzymes appeared in lower concentrations in patients with myelomeningocele than those with infantile atrophy or cerebral palsy. In CSF, CPK, and aldolase concentrations averaged 4.2 I.U. and 2.7 S.L.U. per milliliter, respectively. Significant CPK elevation (p less than 0.001) was also found in AF from myeloschitic fetuses and maternal rat serum. Although these findings suggest that increased CPK concentration is an indicator of myelocele in rats, the technique is impractical for prenatal detection of human fetus occurs too late in gestation. This does not, however, preclude the value of CPK for detecting onset of paraparesis. In all myeloschitic human fetuses, the CSF communicates directly with AF for at least 3 to 4 weeks. This implies that CSF is probably the principal source of increased alpha-fetoprotein concentration encountered in AF of all pregnancies with NTD. When biological variables are recognized, it is evident that increased concentration of amniotic fluid alpha fetoprotein is a reliable indicator of fetuses with open myelocele and/or anenciphalus.

Adolescent↗

Examination for influenza IgA and IgM antibodies in pregnancies associated with fetal neural-tube defects.

Early antenatal serum specimens were collected from 25 women who subsequently gave birth to infants with anencephaly or spina bifida. Fluorescent-antibody test for influenza-specific IgA and IgM antibodies, although shown to be reliable for the detection of recent influenzal infection, failed to demonstrate such infection in any of these women. Early infection was detected in one of 50 control women who gave birth to a healthy infant. The results indicate that influenzal infection in pregnancy was not a major cause of neural-tubal defects in Oxford during 1972--76, if a cause at all.

Antibodies, Viral↗