Syndromes and Congenital Diseases

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Obstetric Nursing is a specialized area that deals with women's health during pregnancy, childbirth and postpartum. An important part of this area is the understanding and management of congenital syndromes and diseases. Congenital conditions are those present at birth, and may be the result of genetic, environmental, or a combination of both. Syndromes, on the other hand, are a group of symptoms that occur together and indicate the presence of a specific medical condition.

Among the most common congenital diseases and syndromes, we can mention Down Syndrome, Turner Syndrome, Klinefelter Syndrome, cystic fibrosis, anencephaly, spina bifida, congenital heart disease, among others.

Down Syndrome is a genetic condition that occurs when a person has an extra copy of chromosome 21. This condition leads to specific physical characteristics such as upward slanting eyes, low-set ears, short, broad hands with short fingers, and short stature. Additionally, people with Down Syndrome often have some degree of intellectual disability.

The Turner Syndrome occurs in women who have only one functioning X chromosome. Women with Turner Syndrome are usually shorter than average and are unable to conceive a child without fertility treatment. Other features may include swollen hands and feet, a wide or webbed neck, and delayed sexual development.

Klinefelter syndrome occurs in men who have an extra X chromosome. Men with Klinefelter Syndrome often have smaller testicles, may have less facial and body hair, may have gynecomastia, and may be infertile.

Cystic fibrosis is a genetic disease that primarily affects the lungs, but also the pancreas, liver, kidneys and intestines. It is characterized by the production of thick, sticky mucus, which can cause breathing problems and block the channels that carry digestive juices.

Anencephaly is a condition in which much of the brain and skull is missing at birth. Unfortunately, this is a condition incompatible with life.

Spina bifida is a condition in which the baby's spinal cord does not develop properly, resulting in spinal defects. Symptoms vary widely from mild problems to serious physical problems such as an inability to walk.

The congenital heart disease is a problem with the structure of the heart that is present from birth. It can involve the walls of the heart, the valves of the heart, and the arteries and veins close to the heart.

Midwifery has a crucial role in the early detection, counseling and management of these congenital diseases and syndromes. Through prenatal tests such as ultrasound, blood tests and amniocentesis, midwives can help identify possible congenital conditions. In addition, they provide support and education for families, helping them understand the condition and make informed decisions about care and treatment.

In conclusion, congenital syndromes and diseases are an important part of midwifery nursing. Understanding these conditions and how they can affect both mother and baby is essential to providing the best possible care.

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