For a woman, pregnancy is associated with a lot of news and great happiness, accompanied by great anxiety. The main concern of pregnant women in the prenatal period (before the birth of the child) is to maintain health and take care of the fetus. It is important to have any kind of information about the condition of you and your fetus, even though most babies are born healthy.
|1p36 deletion syndrome | What we need to know|
1p36 deletion syndrome is a chromosomal disorder that usually causes severe mental retardation. People with the syndrome...
|XXYY syndrome What we need to know|
XXYY syndrome is a sex chromosome abnormality in which males have an extra X and Y chromosome. XXYY …
|Autosomal recessive polycystic kidney syndrome (ARPKD). What we need to know|
A cyst is a formation filled with liquid. It comes in different sizes and appears in different areas of the body. The term "Poly" is used by many...
|Down's syndrome What we need to know|
Down's syndrome is associated with the presence of an extra chromosome in the 21st pair of chromosomes. A normal person has 46 chromosomes...
|DiGeorge's syndrome What we need to know|
DiGeorge syndrome is a chromosomal mutation that often has no genetic character. Girls and boys with DiGeorge syndrome...
|Edwards syndrome What we need to know|
Edwards syndrome is a hereditary disease caused by trisomy of the 18th chromosome and is manifested by multiple organ malformations. …
|Thalassemia What we need to know|
Thalassemia belongs to the group of hereditary hemolytic anemias. Hemolytic anemias are a large group of diseases that differ from each other in reasons, clinical...
|Klinefelter's syndrome What we need to know|
Klinefelter syndrome is a chromosomal disorder characterized by the presence of an extra X chromosome in males. This is due to meiosis...
|Sickle cell anemia What we need to know|
Sickle cell anemia is a hereditary disease in which the red blood cells have a sickle (crescent) shape and their...
|Patau's syndrome What we need to know|
Patau syndrome is a genetic/chromosomal disorder caused by an abnormality of chromosome 13 in some or all of the body's cells.
|Prenatal screening What we need to know|
The purpose of prenatal screening is early assessment of the risk of development of various pathologies of the fetus and pregnancy-related...
|Triple X syndrome | What we need to know|
Triple X syndrome (trisomy X) is a rare disease in which female babies are born with three X...
|Smith-Magen syndrome (SMS). What we need to know|
Smith-Magen syndrome is a chromosomal disorder, a complex developmental disorder that affects multiple organ systems in the body. Violation...
|Turner's syndrome What we need to know|
Turner's syndrome is a hereditary disease accompanied by severe hypoplasia of the ovaries and internal genital organs, ...
|Factor XI deficiency What we need to know|
"Factor XI deficiency" is a pathology in which the blood clotting process is disturbed. As a result, having this disease...
|Phenylketonuria What we need to know|
Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called phenylketonuria (PKU), is a rare inherited disease that causes the body to produce an amino acid...
|Cystic fibrosis What we need to know|
Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat...
|Jacobs syndrome What we need to know|
Most people have 46 chromosomes in each cell. In males, this usually involves one X chromosome and...
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