Medical diagnostics (13 contents)
Genetics and prenatal testing (14 contents)
Prenatal tests - when to perform and how to prepare for them?
Prenatal tests have long played an important role in gynaecology and obstetrics, but nowadays their value is constantly increasing due to the fact that more and more women are becoming pregnant late....
Non-invasive prenatal tests - are they compulsory?
Prenataltests carried out in the first and second trimester of pregnancy allow the detection of many defects in the developing baby. Non-invasive prenatal tests are safe for both mother and baby.
Genetic mutation resulting in Pelizaeus-Merzbacher disease
Genetic diseases can affect one gene as well as multiple genes. Some of the diseases can be chromosomally linked, such as Pelizaeus-Merzbacher Disease. What are the symptoms of the disease? What are...
Mysterious Takahara disease
The mysterious-sounding Takahara disease is also known as acatalasia. What are the symptoms of this disorder? What treatments are recommended to reduce the symptoms of the disease?
Which disease entity is hidden under the mysterious symbol XXY?
Klinefelter's syndrome is categorised as a genetic disease that causes a change in the karyotype. What are the characteristics of Klinefelter syndrome? Who is affected? What is the course of...
Metal accumulation in the CNS
Diseases of the CNS, caused by the accumulation of metals in its centres, can lead to serious damage to individual organs and even death. The best known diseases of this type to date are those...
Oral lesions indicative of genetic disorders
Genetic diseases have accompanied mankind for centuries and the phenomenon of inheritance itself, although unexplained and not fully understood, has nevertheless been noted. Today, some 4 000...
What is Jacobsen Syndrome?
Jacobsen syndrome is classed as an extremely rare genetic condition. The disease is extremely rare, affecting less than one child in one hundred and twenty thousand births. Jacobsen syndrome is...
Which blood tests during pregnancy?
Pregnancy is an exceptional time - the prospect of expecting a baby begins to overshadow the whole world. Caring for the developing baby, becomes paramount for us. It is therefore very important to...
Prenatal screening at 12 weeks' gestation - what Mum-to-be should know
Pregnancy is an extraordinary time in every woman's life - the wait for a baby, full of both moments of joy and moments of doubt, when mothers-to-be worry about the health of their unborn child....
