Prenatal diagnosis and pathoanatomy of iniencephaly

Abstract

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.

Major Diagnostic and Pathological Features of Iniencephaly Based on Twenty-Four Cases

“…In our 24 cases the diagnosis was made between the 17 and 36th (median 20th) week. Similar investigations by Mórocz et al [5] reported the time of diagnosis as in the 15-36th (median 28th) week, while the data of Sahid et al [7] were 18-28th (median 24th) weeks. As was confirmed by the findings of Foderato et al [18] , Meizner et al [19] , Sherer et al [20] , and Dogan et al [4] , modern ultrasonographic diagnostics enabled the obstetricians to make a very early diagnosis in approximately the 12th week.…”

“…Higher maternal serum AFP levels were present in cases of iniencephaly apertus. In the sample of Mórocz et al [5] the maternal serum AFP levels were usually higher. Of the 12 amniotic fluid AFP tests, elevated values were detected in 4 cases (33%).…”

“…In their study, Sahid et al [7] found maternal age to be between 18 and 36 (median 25) years. The relevant findings of Mórocz et al [5] for maternal age were 21-42 (median 27) years. When compared to maternal age for anencephaly (range 14-43, median 23 years), spina bifida (range 16-39, median 24 years), encephalocele (range 19-43, median 24 years) and hydrocephalus (range 16-46, median 25 years) [17] , no significant difference could be verified.…”

Prenatal diagnosis of a rare case of iniencephaly apertus

“…Examples of NTDs are anencephaly, iniencephaly, craniorachischisis, meningomyelocele, meningocele, and encephalocele. 10 Iniencephaly is nearly represents about 1% of all fetal abnormalities, with an incidence rate ranging between 0.1 and 10 in 10,000 deliveries.…”

Late diagnosis iniencephaly with spina bifida

“…[6][7][8][9][10] Sonographic diagnosis based on the extreme dorsal flexion of the head, the unusually short and deformed cervical and thoracic spine, and overall fetal shortening. The head retroflexion and spinal disorganization are visible on medial-sagittal scans of the spinal column.…”