Pregnancy and prenatal screening

29/08/2022

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.

Title	Summary	Learn more
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...	Learn more
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 …	Learn more
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...	Learn more
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...	Learn more
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...	Learn more
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. …	Learn more
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...	Learn more
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...	Learn more
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...	Learn more
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.	Learn more
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...	Learn more
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...	Learn more
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...	Learn more
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, ...	Learn more
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...	Learn more
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...	Learn more
Cystic fibrosis What we need to know	Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat...	Learn more
Jacobs syndrome What we need to know	Most people have 46 chromosomes in each cell. In males, this usually involves one X chromosome and...	Learn more

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