Pathophysiology

Osteogenesis imperfecta

A genetic disorder known as brittle bone disease, diagnosed by signs such as painful blood pressure readings.

Cystic fibrosis

A genetic disorder primarily affecting the respiratory and digestive systems, characterized by thick mucus production that can clog airways.

Phenylketonuria (PKU)

A genetic disorder caused by the missing liver enzyme that can lead to toxic buildup and neurological developmental issues if untreated.

Sickle cell disease

A genetic blood disorder where abnormal hematocrit and hemoglobin cause red blood cells to become crescent-shaped, leading to pain.

Tay-Sachs disease

A genetic disorder caused by a deficiency in an enzyme that breaks down fatty substances in nerve and brain cells, leading to progressive nervous system deterioration.

Marfan Syndrome

A genetic disorder affecting connective tissue, characterized by skeletal deformities and long extremities.

Down Syndrome

A chromosomal disorder caused by trisomy 21, presenting features like upslanted eyes and low muscle tone.

Turner’s Syndrome

A chromosomal disorder affecting females, typically characterized by a missing X chromosome.

Klinefelter’s Syndrome

A chromosomal disorder affecting males, typically characterized by an extra X chromosome (XXY).

Cleft lip and palate

Inherited multifactorial disorders that can lead to difficulty eating and breathing, often requiring custom feeding solutions and possible surgical repair.

Environmental Influences

Factors affecting fetal development due to the mother's health, nutrition, drugs, and exposure to infectious agents.

Teratogenic Agents

Agents that can produce abnormalities during embryonic or fetal development, either chemical, physical, or biological.

FDA Categories of Drug Risk during Pregnancy

A classification system ranging from A (least dangerous) to X (contraindicated), indicating the degree of risk certain medications pose to a fetus.

Fetal alcohol syndrome (FAS)

A condition resulting from alcohol consumption during pregnancy, leading to various developmental issues.

Neural tube defects

Birth defects associated with the brain and spine resulting from folic acid deficiency during pregnancy, including spina bifida and anencephaly.

Amniocentesis

A prenatal diagnostic procedure that involves inserting a needle through the abdomen to obtain amniotic fluid for testing.

Chorionic villus sampling (CVS)

A prenatal diagnostic test that involves taking a sample from the placenta for genetic testing.

New York State Newborn Screen

A mandatory screening for genetic disorders in newborns that aims for early recognition and treatment.

Spina bifida

A type of neural tube defect where the spine does not fully close around the spinal cord.

Anencephaly

A severe neural tube defect where a major part of the brain, skull, and scalp is missing.