Возможности оказания медицинской помощи в современных условиях на примере семьи с наследственной патологией

The paper gives an example of «dyagnostic Odyssee» of the patient with rare hereditary condition, Neu-Laxova syndrome. This case report emphasizes the role of Next Generation Sequencing in establishing the difficult diagnosis; also it demonstrates modern approaches to prenatal DNA analysis and obstetric care in pregnancy.