3% of newborns have a major anomaly defined as an anomaly having either cosmetic or functional significance.
Some are detected ar birth but some such as cardiac defects or renal anomalies may not become clinically apparent until years.
The most common malformation among liveborn infants in the Czech republic are various heart defects (40% of all anomalies diagnosed in the first year of life). Hypospadia and cryptorchidism are common in males, malformations of limbs and congenital luxation of hip joint are common in females. The most common chromosomal abnormality is Down syndrome which affects approximately 0.5 % liveborn infants/45 newborns annually. Renal anomalies and cleft lip and palate are also frequent.
Transpositon of great arteries in term newborn who died several hours after birth with signs of severe cyanosis: Transposition of the great arteries, Macro, autopsy (73890)
Hypoplasic left heart syndrome, the baby died at the age of 4 weeks: Hypoplastic left heart syndrome, Macro, autopsy (73889)
Early neonatal death from severe lung hypoplasia and diaphragmatic malformation: Hypoplasia of the lungs, Macro, autopsy (73817) Hypoplasia of the lungs, Macro, autopsy (73816)
Early neonatal death in premature newborn born at 32 week's gestation with birth weight 1200 g. Death occured early after birth because of lung hypoplasia with eventration of the diaphragm. Chromosomal aberation was suspected because of abnormal phenotype but unofortunatelly postmortal examination of karyotype was unsuccesful. Chromosomal abberation, Macro, autopsy (73885) Chromosomal abberation, Macro, autopsy (73886)