Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases

Abstract

Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children. They are performed on blood, tissues or other body fluids. In recent years, the screening tests and diagnostic tests have improved quickly and, as a result, the risks of pregnancy can be determined more commonly and physicians can diagnose several genetic disorders in the prenatal period. Detecting the abnormalities in utero enables correct management of the pregnancy, prenatal and postnatal medical care, and it is also important for making well informed decisions about continuing or terminating a pregnancy. Besides the improvements of conventional invasive diagnostic tests, the discovery of circulating cell-free foetal nucleic acids in maternal plasma has developed a new point of view for non-invasive prenatal diagnosis recently.

Fig. 1

Karyotype of a patient with trisomy 21

Fig. 2

The craniofacial apperance of a patient with trisomy 21

Fig. 3

The craniofacial apperance of a patient with trisomy 18

Fig. 4

Karyotype of a patient with trisomy 18

Fig. 5

Karyotype of a patient with Turner syndrome