Pathophysiology

  • A baby can be born presenting genetic and congenital disorders, with a trait or carrier of the disorder, it may or may not show physically, it may show later or never at all

Genetic Disorders

  • Osteogenesis imperfecta- brittle bone disease(OI) (painful blood pressure- sign of diagnosis- stop taking blood pressure, notify the provider of abnormal response) 

  • Cystic fibrosis- affects primarily respiratory and digestive system, patient has a lot of thick production/secretions (mucus in passages), mucus can clog the airways causing respiratory infections, digestive issues, person needs to be suctioned a lot, may or may not need oxygen depending on the level of secretions

  • Phenylketonuria (PKU)- PKU is the liver enzyme and it’s toxic in large doses when it builds up in your body, builds up because the liver enzyme is missing and it can’t be broken down, easily prevented, you do a blood test for PKU level, if the level is high you treat the patient, if it’s low you monitor the patient. If PKU is present and untreated, there are neurological developmental issues. Patient may have microcephaly- small brain, reduced function

  • Sickle cell disease- a red blood disorder where H and H are abnormal (hematocrit and hemoglobin- blood cells) H and H is blood lab work drawn in CBC, this is where red blood cells that are normally round sickle (turn from round to crescent-shaped), sharp edges cause the patient pain, teach patients how to maintain or manage pain, pain from cells sickling through triggers like dehydration, stress, hot or cold intolerance.

  • Tay-Sachs disease- enzyme-related disease, enzyme that breaks down fatty substances in your nerve and brain cells, doesn’t work so system can’t communicate with each other, progressively the nervous system falls apart

  • Marfan Syndrome- long and lengthy, affects the body’s connective tissue, mutation in fibrillin 1, have skeletal deformities, long, think, long fingers and extremities, when they’re so long, their spine is long, the longer the spine, the more room there is for a deformity like scoliosis (lordosis, kyphosis)


Chromosomal Disorders

  • Down Syndrome (trisomy 21)- affects the 21st chromosome, same presentation (upslanted eyes, flat nose bridge, one major crease on palm, crooked pinky, hypotonia–low muscle tone, nuchal folds)

  • Turner’s Syndrome- affects females, affects the X chromosome (missing X chromosome)

  • Klinefelter’s Syndrome- affects the male, they have an extra X chromosome (XXY)

Inherited Multifactorial Disorders

  • Cleft lip, cleft palate- very common in developing countries, implications: minimal to none, most likely difficulty eating and breathing, can assist feeding through custom-fit bottles, custom nipples, or feeding tube (can be put through the nose or mouth all the way down to stomach), can be surgically repaired but you need to wait for surgery criteria (specific health state–medically cleared, no current infections, certain weight–15-20 pounds 3-6 months)

Environmental Influences

  • Can affect the parent that is carrying the child

  • What the mother is exposed to- her hormones, her general health, her nutrition, drugs, alcohol

  • Infectious agents

  • Radiation

Organogenesis- organs and their development, period of vulnerability is 15-60 day window after conception


Teratogenic Agents

  • Dangerous to the fetus

  • Chemical, physical, or biologic agent that produces abnormalities during embryonic or fetal development

  • Contraindicated- stop, do not proceed 

  • Teratogenic can be drugs- directly ingested, or taking drugs while trying to get pregnant 

Radiation

  • Heavy doses of radiation are teratogenic and mutagenic (if you’re exposed to them, something will definitely happen)

  • Excessive levels of radiation have been shown to cause microcephaly, skeletal malformations, and mental retardation. 

Chemicals & Drugs

  • There is lead in mercury naturally-occurring, high levels can be very toxic (typically found in fish)

  • Drugs top the list of chemical teratogens 

  • Thalidomide- antiemetic for pregnant people (used for nausea or vomiting) 

  • Ethyl alcohol, warfarin, anticonvulsants, cocaine

  • FDA Categories: A, B, C, D, X

  • A:least dangerous

  • B-D: increasingly dangerous

  • X: contraindicated during pregnancy, proven teratogenicity

  • FAS- fetal alcohol syndrome (drinking throughout pregnancy) 

  • TORCH- toxoplasmosis other rubella cytomegalovirus herpes- toxoplasmosis and 

cytomegalovirus are in the environment, common in urine from cats, common in pediatric

Maternal child world

  • Folic acid deficiency- folic acid is naturally occuring nutrient or vitamin, found in leafy, green 

vegetables , pregnant people need 0.4 milligrams a day (supplement, prenatal vitamin), deficiency 

can lead to neural tube defect–spina bifida, anencephaly, encephalocele (can be fluid 

or nerve endings)

Prenatal Screening and Diagnosis

  • Ultrasonography

  • Maternal serum markers- blood test done during week 11-13, quad screen that tests for 

different substances AMP, HCG, SGL, and inhibin

  • Amniocentesis- very invasive, large needle inserted through abdomen into the amniotic sac, avoiding baby

  • Chorionic villus sampling- same thing drawing from the fetus

  • Percutaneous umbilical cord blood sampling- drawing from the umbilical cord

  • Cytogenic and DNA analysis- a genetic workup

NYS Newborn Screen

  • All babies in NYS get this 

  • Screens for genetic disorders that can permanently impact newborns 

  • Single that draws blood in blood circles on a piece of paper, let the paper dry, and you mail it to the state as a nurse

  • Early recognition and treatment is key 

  • Focus on counseling or patient education (risks of being a carrier or having a disease)