This study indicates that holoprosencephaly represents a heterogeneous entity with different etiologies and clinical appearances. The fact that holoprosencephaly features are found associated with particular conditions such as fronto-nasal dysplasia (2/30; 6.7%), agnathia-otocephaly (3/30; 10%), and anencephaly (3/30; 10%), suggests that these may be underreported conditions in other large holoprosencephaly series.

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Detection of fetal developmental abnormalities by ultrasound examination of pregnant women has become a specialized field of medicine. Quality control of this field requires detailed examination of aborted fetuses. In 408 fetuses and infants with developmental anomalies, the prenatal ultrasound findings were compared with the post-mortem findings. This study focused on 140 central nervous system (CNS) anomalies. Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (NCFM) and an autopsy performed during the period 1985-94. Results of the ultrasound and autopsy examinations were systematized into six different categories. Hydrocephaly and anencephaly were the most frequent abnormalities, together accounting for 50% of the CNS anomalies. In 20 cases (14%), the CNS anomalies were associated with other important anomalies or chromosomal aberrations. In 125 of the cases (89%), there was complete concordance between the ultrasound and autopsy diagnoses. Of the 15 CNS cases with discrepancies, seven had nearly complete concordance; if we include these, the correlation was 94%. In conclusion, this study confirms that developmental anomalies in the central nervous system are frequent and that ultrasound diagnoses are in good concordance with the autopsy diagnoses.

Objective Despite the relatively common occurrence of imperforate anus, prenatal diagnosis is rarely reported. In this study, we investigated the presence and diagnosis of imperforate anus along with strategies for improving prenatal diagnosis of the condition. Patients and methods Fetuses and infants with imper

The accordance between ultrasound diagnoses and postmortem examinations proved to be satisfactory. The close co-operation between ultrasonographers and perinatal pathologists is mutually beneficial. In addition to complementing prenatal diagnosis, postmortem examination is of vital importance for the quality control of ultrasonography in fetal diagnosis and plays an important role in genetic counseling.