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0223U001475,
0119U003648
,
Prevalence and spectrum of birth defects in families with different hereditary and multifactory pathology
Гнатейко Олег Зіновійович,
28-01-2023
State Institution "Institute of Hereditary Pathology of NAMS of Ukraine"
1286 cards were filled out for newborns with congenital malformations (CM) and 1279 cards for healthy children, where CM of the musculoskeletal system prevailed at 292 (22.7%), cleft lip and palate - 212 (16.5%), and chromosomal abnormalities - 186 (14.5%). In 30 patients with visual impairments, such anomalies as microphthalmia, microcornea 9 (19%), cataract, and subatrophy of the optic nerve discs were most common in 7 (15%) cases. In 92 children with chronic pyelonephritis, vesicoureteral reflux took the first place among CM - 63 (68.5%); unilateral or bilateral doubling of the kidneys - 19 (20.7%); and unilateral hydronephrosis - 6 (6.5%). Among 79 children with CM of the gastrointestinal tract, the most common diagnoses were pylorostenosis (24.1%), anorectal malformations (22.8%) and CM of the small intestine (15.2%). In 70% of children with chromosomal pathology, mental retardation was noted, and polysystem organ damage was observed. Among the 486 long-term residents of CM, 15 people (3.1%) met. Among the 957 children who were born in a family where one of the spouses was long-lived (375 families), 54 (5.6%) children were diagnosed with CM, which corresponds to the general population indicators.
Iskiv Mariana
Vlokh Marta V.
Helner Nadiia V.
Henyk-Berezovska Sоfiya
Hnateiko Zinovii
Hnateyko Oleh
Gruzintseva Nataliia
Drobchak Marta
Kitsera Nataliya Ivanivna
Kovalchuk Larysa
Kozovyi Ruslan
Lukianenko Nataliia S.
Luchak Marta
Savchak-Lototska Oksans
Teneta Mariana
Sharhorodska Yevgeniya
2023-01-28
Updated: 2025-12-08
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