Congenital anomaly evaluation program in Zekai Tahir Burak Women's Hospital: Preliminary results

Amaç 

We are presenting the first results of our new and computer based evaluation program of congenital abnormalities in our hospital. This program is started to record of cases with congenital abnormalities more systematically. These findings can help us to discuss the screening programs we need in our hospital and in Turkey. in this study we are only presenting prenatally diagnosed cases in 2001.

Yöntem

148 congenital abnormality cases were evaluated. Cases diagnosed by ultrasound had been evaluated not only prenatally but also after pregnancy termination. Fetal examination, anthropometrical measurements, X-ray studies had done in all cases and families invited to Genetics outpatient clinic for genetic counseling. Autopsy was performed to 35 cases who approved. Both prenatal and postnatal findings of the cases enrolled to a computer program. All of the cases classified as in "International Classification of Diseases".

Bulgular

55 central nervous system defects (44 neural tube defects, 8 hydrocephaly, 2 holoprosencephaly and 1 microcephaly), 21 had chromosomal defect, 17 had musculoskeletal system disorder, [6 skeletal displasias (1 achondroplasia, 1 thanatophoric dysplasia, 1 Langer type mesomelic dysplasia, 1 hypophosphatasia, two campomelic dysplasia), 2 osteogenesis imperfecta (1 of type I, 1 of type III), 3 disostosis (1 spondylothorasic- Jarco Levin, 1 spondylocostal, 1 hemivertebra), 2 artrogryphosis multiplex congenital, 1 bilateral 1 unilateral club foot], 14 had congenital malformation syndromes, 17 had non-immune hidrops, 11 had genitourinary system disorder, 7 had cystic hygroma, 3 had congenital infection, 2 had gastrointestinal disorder, 2 had cardiovascular system disorder, 1 had respiratory system disorder and 5 had other disorders.

Sonuç

Multidisciplinary and computer registration based studies are necessary for systematic screening programs for congenital malformations. Multidisciplinary studies are more effective than the studies preformed by only one department. The biggest problem is the classification of cases. "International Classification of Diseases" is one of the most useful classifications to use in a computer program for screening studies.

Anahtar Kelimeler

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