Unit 1 Flashcards
What is infant mortality rate?
What are the leading cause of infant death in the US?
Factors leading to infant death include…
of infant deaths following live birth divided by total number of live births
Leading causes of infant deaths in US: Congenital malformations, preterm birth and LBW (most significant factor), SIDS
Factors leading to infant death include.
- Limited maternal education (low education level)
- Young maternal age (teen mom, very inexperienced, usually not a lot of support)
- Unmarried status (also associated with not having a lot of support)
- Poverty
- Lack of prenatal care
- Smoking
- Poor nutrition
- Alcohol use
- Poor overall maternal health
Define:
Low birth weight:
Very low birth weight:
Preterm birth:
Low birth weight (LBW) - weight less than 5.5 pounds, or 2,500 grams
Very low birth weight (VLBW) - weight less than 3.3 pounds, or 1,500 grams
Preterm birth (PTB) - live infant birth before 37 weeks
Causes associated with PTB and LBW infants
- Social causes: poverty, not having prenatal care, being of a racial or ethnic minority
- Behavioral causes: maternal stress can increase risk of PTB (usually extreme stress), substance abuse, smoking
- Physiologic cause: health problems in the mom that indicates an earlier delivery (hypertension or diabetes)
- Poor Nutrition
- Teen Pregnancy
What is maternal mortality rate?
3 major causes:
Risks:
of maternal deaths divided by total # of live births
Moms that die within one year window of giving birth, specifically deaths associated with that birth or pregnancy (e.g., postpartum hemorrhage, cardiomyopathy during pregnancy leading to heart failure)
3 major causes:
- Hypertensive disorders (preeclampsia, eclampsia)
- Infection
- Hemorrhage
More maternal death in moms that are younger than 20 and older moms (35+), moms that lack prenatal care, moms with low education level, unmarried/single moms, and moms in a racial or ethnic minority
Disparities in African American women having higher levels of maternal mortality (lack of access)
What is maternal morbidity?
Pregnancy complications include…
What greatly increases the risk for complications in pregnancy?
Pregnancy complications that lead to long-term problems
- Acute renal failure
- Cardiomyopathy (can lead to heart failure)
- Amniotic fluid embolism (Rare; a bubble of amniotic fluid goes to the lung; usually happens right at delivery)
- Cerebrovascular accident
- Eclampsia (developing a seizure disorder after having preeclampsia)
- Pulmonary embolism
- Liver failure
- Shock
- Septicemia
- Complications of anesthesia
Obesity greatly increases the risk for complications in pregnancy (diabetes, hypertension); it also increases risk of miscarriage, birth defects
Risks of Teen Pregnancy include…
Increased risk of adverse outcomes for both mother and infant
- Maternal death
- Risk for STIs (see more STIs in younger women)
- Greater risk of cephalopelvic disproportion (CPD) (issues with baby’s head fitting through mom’s pelvis)
Less likely to receive prenatal care (not as much social support, poor, lack of transportation, more likely to abuse drugs)
More likely to have PTB and LBW infant
Prenatal genetic testing options include…
Which tests are screening and which are diagnostic?
- Maternal serum screening: Offered to all moms; it is a blood test; It is a sensitive test, but it is only a screening test. This test is looking for neural tube defects and trisomy 13, 18, 21
- Fetal Ultrasound: Used as a screening test; a lot of physical anomalies associated with genetic disorders can be seen on ultrasound
- NIPT (Non-invasive prenatal testing): Serum blood test; screening test
- Amniocentesis and Chorionic Villus Sampling: diagnostic test that confirms a genetic disorder
What is carrier testing?
Identifies individuals who have a gene mutation for an autosomal recessive condition
Sickle cell anemia, Cystic fibrosis, Tay-Sachs disease
What is predictive testing?
Presymptomatic testing?
Predispositional testing?
Predictive: used to clarify genetic status of asymptomatic family members
Presymptomatic: symptoms will definitely appear if the patient has the mutation (if they live long enough). Ex: Huntington’s Disease - autosomal dominant mutation
Predispositional: tests for a genetic mutation that, if present, increases the predisposition for that problem or disease. Ex: BRCA 1, + results do not mean there is a 100% risk of developing the condition (breast cancer)
Describe newborn screening
Mandatory state-supported public health program
Screens for over 50 disorders
Cystic fibrosis, Tay-Sachs, PKU, Galactosemia, Congenital hypothyroidism, Sickle cell anemia
If it comes back abnormal, the infant will have follow-up with pediatrician
What is trisomy 21?
What are the common characterisitcs?
What is a big risk factor for trisomy 21?
Down’s Syndrome: one of the more common genetic disorders; affects the 21st pair of chromosomes -> extra chromosome; 1 in 691 babies are affected
Characteristics:
- All individuals have some degree of intellectual disability
- Upward slant of eyes
- Small skin folds in inner corner of eyes (epicanthal folds)
- Flat facial profile, depressed nasal bridge and small nose (seen on ultrasound)
- Small, low-set ears
- Enlarged tongue
- Small deep crease across center of palms (simian crease)
- Hypotonia - low muscle tone
- Hyperflexibility (joints are extremely flexible “floppy baby”)
- Also will see a shorter, webbed neck
- Typically small babies
BIG risk factor of Down Syndrome -> older moms (35+)
Describe Trisomy 18
What are the common characteristics?
“Edward syndrome”: 1 in every 3,000 live births
- Severe mental retardation
- CNS abnormalities
- Craniofacial abnormalities
- Cleft lip/cleft palate
- Really small mouth and jaw; the babies themselves are very small
- Cardiac malformations are common
- Rocker bottom feet and clenched fist (will see on ultrasound)
- Classic: rocker bottom feet + clenched fist + cardiac defect + cleft lip/palate
- Poor prognosis: sometimes baby does not make it through the delivery or is stillborn; a lot of babies die in the first year
Describe Trisomy 13
What are the common characteristics?
“Patau syndrome”: 1 in every 10,000 live births
- Holoproscencephaly: fusion of developing eyes (“cyclops appearance”)
- CNS abnormalities
- Cardiac abnormalities
- Cleft lip and palate
- Malformations in the extremities (can also be seen on ultrasound)
- These babies usually die in utero; sometimes are stillborn
- Very poor prognosis: usually “kept comfortable” in the hospital or go home on palliative care
What is Turner Syndrome?
What are the characteristics?
Monosomy X (45 X): only one copy of “X”
Affects females only
- Lack of secondary sex characteristics (they do not go through puberty or develop pubic hair)
- Juvenile external genitalia
- Underdeveloped ovaries (they are infertile)
- Short stature
- Webbed neck
- Low-set ears
- Impaired intelligence
- A lot of times these babies abort spontaneously in utero
What is Klinefelter syndrome?
What are the characteristics?
Trisomy XXY (47 XXY) - an extra copy of “X”
Affects males only
- Usually tall
- Underdeveloped secondary sex characteristics (don’t develop hair on body, deep voice)
- Small testes (they are usually infertile)
- Learning disabilities