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

• Published in: Fetal diagnosis and therapy Vol. 24; no. 1; pp. 1 - 6
• Main Authors: Joó, József Gábor, Beke, Artúr, Papp, Csaba, Szigeti, Zsanett, Csaba, Ákos, Papp, Zoltán
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland Karger 01.01.2008; S. Karger AG
• Subjects: Adolescent; Adult; Biological and medical sciences; Delivery. Postpartum. Lactation; Female; General aspects; Gynecology. Andrology. Obstetrics; Humans; Male; Malformations of the nervous system; Medical sciences; Neural Tube Defects - complications; Neural Tube Defects - diagnostic imaging; Neural Tube Defects - pathology; Neurology; Pregnancy; Pregnancy Outcome; Sex Ratio; Ultrasonography, Prenatal; Iniencephaly, prenatal diagnosis; Pregnancy outcome, iniencephaly; Accompanying abnormalities, iniencephaly; Autopsy; Ultrasonography; Sonography; Iniencephalus; Nervous system diseases; Prognosis; Diseases of the osteoarticular system; Accompanying abnormalities, iniencephaly .Pregnancy outcome, iniencephaly .Autopsy; Neonatology; Congenital disease; Cerebral disorder; Medicine; Prenatal diagnosis; Malformation; Central nervous system disease; Echography; Skull disease; Evolution; Anomaly
• ISSN: 1015-3837; 1421-9964
• DOI: 10.1159/000132398

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients’ history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum α-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography.