Results of postmortem evaluation of 602 foetuses

Amaç

We are presenting the results of routine postmortem evaluations of foetuses in our hospital to stress the importance of this evaluation on prenatal diagnosis in further pregnancies and genetic counselling.

Yöntem

602 cases were evaluated between 1998-2001 in this study. The sources of the cases were 1) prenatally diagnosed and terminated pregnancies in our hospital 2) Foetuses detected during daily routine visit to morgue, 3) Cases referred from other hospitals. Postmortem examination of all cases and X- ray studies of 416 cases and autopsy (when family approved-60 cases) were done. Records of dysmorphic findings, antropometric measurements and photographs of the foetuses were archived. Cases were classified by using "International Classification of Disorders".

Bulgular

245 central nervous system disorder, 57 chromosomal disorder, 62 musculoskeletal system disorder, 115 multiple malformation syndrome, 35 hydrops fetalis, 26 genitourinary system disorder, 17 congenital infections, 11 cardiovascular defects, 10 gastrointestinal defects, 1 respiratory system anomaly, 5 unclassified cases (2 anhydroamnios sequence due to premature rupture of membranes, 2 conjoined twins, 1 type II sacrococsigeal teratoma) were detected.

Tartışma

Postnatal evaluation of foetuses is very important diagnostic study for adequate and accurate genetic counselling and planning prenatal diagnostic method for further pregnancies. Exact diagnosis of a case presents aetiology and inheritance pattern of disorder. Risk assessment, determination of laboratory methods and detection of cases have risk in the same family are possible after exact diagnosis of case. On the other hand, prenatal diagnostic studies are getting cheaper and easier in case of effective postmortem evaluation. The biggest group of anomalies was neural tube defect (181 cases) both in study group and in cases with CNS anomalies. This finding presents the importance of folic acid replacement. This is a very cheap and effective way of prevention. Skeletal dysplasias were the biggest group in musculoskeletal system disorders. These disorders can be classified easily by X ray studies. On the other hand, all class of cases can have X-ray findings, because of that, X-ray studies necessary in all cases. Chromosome analysis is also very important during this evaluation. Postnatal foetal blood samples and skin biopsy are the best choice. Foetal urine sample can sometimes helpful for chromosomal studies.

Sonuç

All foetuses must be evaluated by an experienced person. If this is not possible, foetal blood and skin samples must be send to a genetic centre and foetal photographs and X rays can be archived for consultation with an experienced centre. TORCH studies must be done from both foetal and maternal samples in perinatal period. These records are very important for the evaluation of these cases.

Anahtar Kelimeler

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