Kelainan kongenital didefinisikan sebagai kelainan struktural atau fungsional termasuk kelainan metabolisme yang muncul sebelum atau saat kelahiran dan mengakibatkan kecacatan pada anak bahkan kematian. Kelainan ini dipengaruhi faktor seperti genetik, sosioekonomi demografi dan lingkungan. Penelitian ini bertujuan untuk menemukan faktor yang berhubungan dengan kejadian kelainan kongenital pada anak di Kecamatan Tembalang Kota Semarang. Studi kasus kontrol dengan pendekatan retrospektif dilakukan terhadap wanita yang memiliki anak dengan kelainan kongenital dan yang tidak, yang telah tinggal di Kecamatan Tembalang selama minimal 5 tahun serta mengonsumsi air tanah setempat. Hasil penelitian memperoleh 22 kasus dan 48 kontrol. Cerebral palsy merupakan kelainan yang paling banyak ditemukan (36%) diikuti autisme (18%), sisanya buta sejak lahir, tuli kongenital, sindrom Down, hidrosefalus dan glukoma kongenital (46%). Riwayat konsanguinitas, riawayat kelainan genetik keluarga, konsumsi obat selama kehamilan, dan infeksi TORCH berhubungan signifikan dengan kelainan kongenital anak, dengan OR 95% CI masing-masing 10,44 (1,0999,86); 4,04 (1,38-11,84); 4,17 (1,34-12,91); 3,67 (2,47-5,44). Tidak ada hubungan faktor sosioekonomi-demografi seperti umur ibu ketika hamil, pendidikan, status ekonomi dan kadar timbal air tanah dengan kelainan kongenital pada anak. Riwayat konsanguinitas adalah yang paling dominan terhadap kejadian kelainan kngenital anak di Kecamatan Tembalang, Kota Semarang

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Congenital abnormalities are defined as structural or functional disorders including metabolic disorders that appear prior or during birth and resulted in disability in children, or death. This known risk factors are genetic, socioeconomic-demographic and environmental factor. This study aims to find factors related to the prevalence of congenital abnormalities in children in Tembalang District, Semarang City. A retrospective case control study was conducted to women who have children with congenital abnormalities and those with normal children, who have lived in Tembalang for at least 5 years and consuming local groundwater. The results obtained in 22 cases and 48 controls. Cerebral palsy is the most common disorder (36%) followed by autism (18%), the rest were congenital blindness, congenital deafness, Down syndrome, hydrocephalus and congenital glaucoma (46%). Consanguinity, family history of genetic abnormalities, drug consumption during pregnancy, and TORCH infection were significantly associated with congenital abnormalities, with OR of 95% CI were 10.44 (1.09-99.86); 4.04 (1.38-11.84); 4.17 (1.34-12.91); 3.67 (2.47-5.44) respectively. There is no correlation between socioeconomic-demographic for maternal pregnancy age, maternal education, economy statuss and ground water lead levels with congenital abnormalities in children. In conclusion, consanguinity is the most dominant factors for the prevalence of congenital abnormalities in children in Tembalang District, Semarang City.