Early prenatal diagnosis of cyclopia associated with holoprosencephaly.
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Biomedical subjects
Publications and source records attributed to K Csécsei.
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The authors discuss the diagnostic criteria of iniencephaly based on data from the literature and eleven additional, new cases. The most important differential diagnostic problems involve anencephaly with spinal retroflexion and the Klippel-Feil syndrome. Ultrasound indicated cranio-spinal alterations while amniotic fluid AFP estimation and exfoliative cytology substantiated abnormal closure of the neural tube, thus comprising helpful means for prenatal diagnosis of iniencephaly. The authors emphasize the need for median-sagittal sectioning through the spinal column for accurate evaluation of vertebral abnormalities. This, together with close observation of the occiput and the foramen magnum, helps the precise diagnosis of iniencephaly and once regularly applied will most likely result in more frequent recognition of this developmental abnormality.
In some anencephalic fetuses exposed neural tissue mass of varied size can be demonstrated. This is known as exencephaly. The authors diagnosed by ultrasound 10 typical exencephalic cases prenatally between 14 and 21 weeks of gestation. Nine singular pregnancies were terminated and in the twin pregnancy a selective feticide of the exencephalic co-twin was carried out. The pregnancy continued to term and a healthy newborn infant and a fetus papyraceus were born. The mummified co-twin was anencephalic and showed only the remnants of the exposed brain. Authors suggest that, as in experiments with animals, the exencephaly in humans, by the degeneration of the exposed neural tissue converts to anencephaly and in this process the macrophages in fetal circulation and in the amniotic fluid may play a significant role. The large number of these actively phagocytic macrophages can be demonstrated in the amniotic fluid samples from exencephalic fetuses.
Diabetic pregnant patients belong to a high-risk group from a genetic counselling point of view. Therefore serum AFP estimation and ultrasound examination was carried out in 36 diabetic pregnancies, between the 16-20 gestational weeks. Healthy infants were delivered in 28 cases, fetal malformations or diseases were diagnosed in 3 cases (2 exencephaly and 1 polycystic kidney disease), 5 pregnancies ended up with stillbirth and/or severe fetopathy. According to our findings, the feto-maternal AFP balance is altered in poorly controlled diabetic pregnant patients. Therefore the maternal serum AFP concentration does not always reflect the AFP content of amniotic fluid. It is supposed that the low serum AFP concentration in diabetic patients is due to the disturbed AFP balance, which cannot be observed in well controlled pregnant diabetics. In the pregnancy of diabetic mothers both serum AFP and ultrasound examination should be carried out. With further improvement in the preconceptional treatment of diabetic patients not only the number of malformations caused by hyperglycaemia should diminish, but the problems of false negative and false positive serum AFP values caused by the disturbance in carbohydrate metabolism should also become less frequent.
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Metroplasties were performed on twenty three septate uterus associated with recurrent reproductive wastage (19 cases) or primary infertility (4 cases). The surgical procedure and ultrasound monitoring of pregnancies conceived postoperatively are reported. Eighteen pregnancies occurred in sixteen patients; fourteen ended in live birth and four spontaneous abortions, including two blighted ova and one mole occurred. It appears from the results that uterine anomalies are rarely the sole cause of primary infertility; therefore, selection of patients is emphasized.
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The case of a 23-weeks-old fetus is described in whom prenatal ultrasonography revealed ascites accompanied by an increased alpha-fetoprotein concentration in the amnial fluid. Detailed embryopathological work-up carried out after induced abortion demonstrated generalized cytomegalovirus disease and furnished histological proof of transplacental propagation.
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