Chorionic villus sampling: What are chorionic villi? Genetically, the villi originate from the fetus. Cells obtained from the chorion therefore provide reliable information about hereditary diseases, inborn errors of metabolism and chromosomal disorders of the child. Chorionic villus sampling: What diseases can be detected? Trisomy 13 (Pätau syndrome) Trisomy 18 (Edwards syndrome) Trisomy 21 (Down … Chorionic villus sampling: What’s behind it
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
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
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
Kampomele dysplasia is a mutation-related malformation syndrome. Skeletal dysplasias, short stature, and respiratory hypoplasia characterize the picture. Approximately ten percent of patients survive the first few weeks of life and receive symptomatic oeprative treatment to correct their malformations. What is campomelic dysplasia? Malformation syndromes are congenital combinations of malformations of different tissues and organs. Often, … Kampomele Dysplasia: Causes, Symptoms & Treatment
Preimplantation genetic diagnosis is the term used by physicians to describe molecular genetic testing. This involves research into hereditary diseases or abnormalities in the chromosomes of embryos created through artificial insemination. What is preimplantation genetic diagnosis? Preimplantation genetic diagnosis (PGD) is medical research performed on embryos conceived through artificial insemination. Preimplantation genetic diagnosis (PGD) is … Preimplantation Genetic Diagnosis: Treatment, Effects & Risks
Umbilical cord puncture is an invasive examination method in prenatal diagnostics. In this procedure, a small amount of blood is taken from the umbilical cord of the unborn child. It is used to detect diseases and genetic defects in the child. What is umbilical cord puncture? Umbilical cord puncture is a procedure in which a … Umbilical Cord Puncture: Treatment, Effects & Risks
Fraser syndrome is a very rare genetic disorder characterized by multiple physical malformations. The expression of the individual malformations is not uniform, so that in addition to cases of stillbirths and children who die immediately after birth, there are also affected individuals with normal life expectancy. Therapy depends on the type of malformation. What is … Fraser Syndrome: Causes, Symptoms & Treatment
Chorionic villus sampling can be used during pregnancy to examine the unborn child for possible genetic disorders. It is possible to perform this examination method at a very early stage in pregnancy. What is chorionic villus sampling? Chorionic villus sampling can be used during pregnancy to examine the unborn child for possible genetic disorders. Prenatal … Chorionic Villus Sampling: Treatment, Effects & Risks
Trisomy 14 is the result of a genomic mutation. Symptoms depend on the type of mutation. Often, trisomy 14 causes miscarriages, according to studies. What is trisomy 14? There is a difference between gene mutations and genomic mutations. In gene mutations, certain nucleotides are missing, some nucleotides are switched, or additional nucleotides are added. In … Trisomy 14: Causes, Symptoms & Treatment
FISH test is a microscopic chromosome test used in prenatal and carcinoma diagnosis of breast cancer, gastric cancer and in chronic lymphocytic leukemia. The test, the result of which is available within 1 to 2 days, can detect mainly chromosomal abnormalities that are due to an altered chromosome set of certain chromosomes. The test is … FISH Test: Treatment, Effect & Risks
Prenatal care is a preventive health service for pregnant women. It consists of preventive examinations and optional additional examinations for women in risk groups. Prenatal care begins from the time the pregnancy is diagnosed by a doctor and ends shortly before the baby is born, to be followed by postnatal care for the woman and … Prenatal Care: Treatment, Effects & Risks
