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.

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1p36 deletion syndrome | What we need to know
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...

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Male Patient Having Consultation With Doctor In Office
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 …

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Autosomal recessive polycystic kidney syndrome (ARPKD). What we need to know
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...

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Down's syndrome What we need to know
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...

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DiGeorge's syndrome What we need to know
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...

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Edwards syndrome What we need to know
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. …

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Thalassemia What we need to know
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...

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Klinefelter's syndrome What we need to know
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...

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Sickle cell anemia What we need to know
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...

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Patau's syndrome What we need to know
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.

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Prenatal screening What we need to know
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...

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Triple X syndrome | What we need to know
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...

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Smith-Magen syndrome (SMS). What we need to know
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...

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Turner's syndrome What we need to know
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, ...

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Factor XI deficiency What we need to know
Factor XI deficiency What we need to know

Factor XI deficiency is a bleeding disorder that interferes with the body's blood clotting process. As a result, this...

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Phenylketonuria What we need to know
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...

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Cystic fibrosis What we need to know
Cystic fibrosis What we need to know

Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat...

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Jacobs syndrome What we need to know
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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