Table: Some Genetic Disorders That Can Be Detected Before Birth - Merck Manuals Consumer Version

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Some Genetic Disorders That Can Be Detected Before Birth

Some Genetic Disorders That Can Be Detected Before Birth

Disorder	Incidence	Inheritance Pattern
Cystic fibrosis Cystic Fibrosis (CF) Cystic fibrosis is a hereditary disease that causes certain glands to produce abnormally thick secretions, resulting in tissue and organ damage, especially in the lungs and the digestive tract... read more	1 of 3,300 white births 1 of 15,300 black births 1 of 32,000 Asian-American births	Autosomal recessive
Congenital adrenal hyperplasia	1 of 9,000 to 14,000 births	Autosomal recessive
Duchenne muscular dystrophy Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness of varying... read more	1 of 4,700 male births	X-linked recessive
Hemophilia A Hemophilia Hemophilia is a hereditary bleeding disorder caused by a deficiency in one of two blood clotting factors: factor VIII or factor IX. Several different gene abnormalities can cause the disorder... read more	1 of 8,500 male births	X-linked recessive
Alpha- and beta-thalassemia Thalassemias Thalassemias are a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin (the oxygen-carrying protein found... read more	Varies widely by ethnic and racial group	Autosomal recessive
Fragile X syndrome Fragile X Syndrome Fragile X syndrome is a genetic abnormality on the X chromosome that leads to intellectual disability and behavior problems. Chromosomes are structures within cells that contain DNA and many... read more	1 of 4,000 male births 1 of 8,000 female births	X-linked dominant
Polycystic kidney disease Polycystic Kidney Disease(PKD) Polycystic kidney disease is a hereditary disorder in which many fluid-filled sacs (cysts) form in both kidneys. The kidneys grow larger but have less functioning tissue. Polycystic kidney disease... read more (adult type)	1 of 1,000 births	Autosomal dominant
Sickle cell anemia Sickle Cell Disease Sickle cell disease is an inherited genetic abnormality of hemoglobin (the oxygen-carrying protein found in red blood cells) characterized by sickle (crescent)-shaped red blood cells and chronic... read more	1 of 400 black births in the United States	Autosomal recessive
Tay-Sachs disease Tay-Sachs Disease and Sandhoff Disease Tay-Sachs disease and Sandhoff disease are types of lysosomal storage disorder called sphingolipidoses and are caused by a buildup of gangliosides in the tissues in the brain. These diseases... read more	1 of 3,600 births to Ashkenazi Jews and French Canadians 1 of 400,000 births in other groups	Autosomal recessive