Medical Genetics - V. M. Zaporozhan 2005

Congenital Malformations
Principles of prenatal diagnosis of congenital malformations

Congenital Malformations are morphological changes in Organs that can be diagnosed prenatally using ultrasound imaging. The optimal periods for screening congenital malformations are 16–20 and 24–26 weeks. To diagnose neural tube defects, the level of a-fetoprotein (AFP) is determined in the pregnant woman's Blood serum. In neural tube defects, the AFP concentration is significantly higher than normal. If the protein concentration is elevated, a thorough ultrasound, and sometimes amniocentesis followed by Determination of the AFP concentration in the Amniotic Fluid, is performed to clarify the Diagnosis of the neural tube defect.



Last update: 11/08/2026

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