Medical Genetics - V. M. Zaporozhan 2005

Prevention of Hereditary Diseases
Prenatal Diagnosis of Hereditary Diseases and Congenital Malformations
Classification of Prenatal Diagnostic Methods

Prenatal Diagnostics refers to the detection of hereditary disorders and congenital birth defects during Pregnancy. It is one of the most resource-intensive fields in medicine. However, calculations show that the cost of Treatment, rehabilitation, and lifelong care for an individual with a congenital condition is 100 to 1,000 times higher than the expenses associated with antenatal Diagnosis, Prevention, and correction of fetal abnormalities.

Methods of prenatal diagnostics:

a) non-invasive: Ultrasound examination (Ultrasonography), and the measurement of biochemical substances in maternal serum known as maternal serum markers: the beta-subunit of human chorionic gonadotropin (ß-hCG), pregnancy-associated plasma protein A (PAPP-A), alpha-fetoprotein (AFP), total human chorionic gonadotropin (hCG), and unconjugated or free estriol (uE3);

b) invasive (chorionic villus sampling, amniocentesis, placentocentesis, cordocentesis).

Prenatal diagnostic methods are also categorized into screening methods (ultrasound, serum marker screening) and diagnostic methods (ultrasound, invasive Procedures).



Last update: 11/08/2026

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