What is amniocentesis? During amniocentesis, the doctor removes some amniotic fluid from the amniotic sac via a hollow needle. Fetal cells float in this amniotic fluid and can be isolated in the laboratory and multiplied in a cell culture. After about two weeks, sufficient genetic material is then available to be examined for errors and … Amniocentesis: Reasons and Procedure
As part of prenatal diagnostics, an examination of the child in the womb, further diagnostics may become necessary. This is done by means of fine ultrasound, a special sonographic examination that enables the physician to follow up on indications of a possible developmental disorder of the child or physical abnormalities. What is fine ultrasound? As … Fine Ultrasound: Treatment, Effects & Risks
An omphalocele, a hernia of the base of the umbilical cord, develops intrauterine and occurs as a congenital malformation in newborns. In this case, individual organs are anterior to the abdominal cavity and are enclosed by an omphalocele sac. There is a risk of rupture. What is an omphalocele? An omphalocele or exomphalos is the … Omphalocele: Causes, Symptoms & Treatment
The medical term brachydactyly describes shortened fingers and toes. This condition, usually inherited in an autosomal dominant manner, belongs to the group of malformed limbs. What is brachydactyly? This genetic defect occurs either in isolation or syndromically. The course may have a primary or a secondary cause. It is additionally characterized by bony dysostosis. Only … Brachydactyly: Causes, Symptoms & Treatment
Placental insufficiency refers to a deficiency of the placenta, which is important for feeding the unborn baby. In this case, the placenta is not supplied with sufficient blood, so that the exchange of substances between the fetus and the placenta does not function properly. What is placental insufficiency? The placenta is of great importance to … Placental Insufficiency: Causes, Symptoms & Treatment
Neurofibromatosis type 1 is a genetic disorder for which malformations of the central nervous system and skin are characteristic. With approximately one in 3000 newborns, neurofibromatosis type 1 is one of the most common genetic disorders. What is neurofibromatosis type 1? Neurofibromatosis type 1 (also known as Recklinghausen’s disease) is a genetic phakomatosis with malformations … Neurofibromatosis Type 1: Causes, Symptoms & Treatment
Dystroglycanopathies are among the hereditary muscular dystrophies. They are a group of muscle disorders with varying symptoms, but all arise from disorders of specific glycosylations. There are currently no causal treatments for any of the dystroglycanopathies. What are dystroglycanopathies? Dystroglycanopathies represent hereditary muscular dystrophies based on metabolic disorders of glycosylation reactions. They are very rare … Dystroglycanopathy: Causes, Symptoms & Treatment
As a severe developmental brain disorder, lissencephaly is not curable today. Therapeutic steps lie primarily in symptom relief. What is lissencephaly? Lissencephaly is a malformation of the brain. The name lissencephaly is derived from the Greek words for ‘smooth’ (lissos) and ‘brain‘ (encephalon). In the context of lissencephaly, the brain convolutions are not fully formed … Lissencephaly: Causes, Symptoms & Treatment
Phelan-McDermid syndrome is a genetic developmental disorder. It results in neuromuscular symptoms and severe intellectual disability. What is Phelan-McDermid syndrome? In the medical community, Phelan-McDermid syndrome (PMS) is also known as microdeletion 22q13.3 or 22q13.3 deletion syndrome. This refers to a genetically caused developmental disorder associated with intellectual disability, neuromuscular complaints, and a lack of … Phelan-McDermid Syndrome: Causes, Symptoms & Treatment
The term prenatal diagnostics covers various examinations that take place during pregnancy. They deal with the early detection of diseases and maldevelopments of the unborn child. What is prenatal diagnostics? The term prenatal diagnostics covers various examinations that take place during pregnancy. Prenatal diagnostics (PND) refers to medical examination procedures and devices that deal with … Prenatal Diagnostics: Treatment, Effects & Risks
Meckel-Gruber syndrome (FMD) is an inherited disorder. It is characterized by the most severe congenital disabilities. Affected newborns usually die within the first two weeks after birth. What is Meckel-Gruber syndrome? Meckel-Gruber syndrome is an inherited disorder characterized by kidney cysts, developmental abnormalities, and central nervous system disorders. The condition is also known as Meckel … Meckel-Gruber Syndrome: Causes, Symptoms & Treatment
There are numerous fears and anxieties that pregnant women have. Probably the biggest fear is toxoplasmosis in pregnancy. Mainly because toxoplasmosis can not only cause miscarriages, but sometimes it can also cause damage to the unborn baby. For this reason, it is important to avoid all possible sources of infection. Toxoplasmosis: higher risk of transmission … Toxoplasmosis in Pregnancy
