Pregnancy and prenatal screening

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.

Official Qualification	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
Antiphospholipid syndrome What we need to know	Etiology Antiphospholipid syndrome is an autoimmune disease. Symptoms and clinical manifestations are diverse, of which arterial and venous ...	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
Genetic thrombophilia What we need to know	Thrombophilia is a condition in which the probability of blood clots is increased. This condition is called hypercoagulation. Thrombophilia may be...	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
Jacobs syndrome (XYY) \| What we need to know	Human karyotype (set of chromosomes) consists of 23 pairs, or 46 chromosomes. 22 pairs of chromosomes - autosomal, ...	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
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
Preeclampsia What we need to know	Preeclampsia is a condition developed at 20 weeks or more of pregnancy, which threatens both the mother and the...	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
fructose What we need to know	Fructosuria is a condition developed as a result of disruption of fructose metabolism, when the concentration of fructose in the urine and blood increases. this …	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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