Ch. 3, 19, 20, 5, 8, 11, 17 (Abnormal G&D) Flashcards
Growth & Development Pt. 2 (135 cards)
congenital anomalies are
birth defects
- occur in 2-4% of all live-born children and are often classified as either deformations, disruptions, dysplasias, or malformations
- some are preventable, some are not
deformations
caused by extrinsic mechanical forces on normally developing tissue
- ie. uterine restraint causes club foot
disruptions
result from the breakdown of previously normal tissue
- ie. congenital amputations caused by amniotic bands
dysplasias
result from abnormal organization of cells into a particular tissue type
- ie. congenital anomalies of the teeth, hair, nails, or sweat glands may be manifestations of one of the more than 100 different ectodermal dysplasia syndromes
malformations
abnormal formations of organs or body parts resulting from an abnormal developmental process
- most occur before 12 weeks gestation
- ie. cleft lip (5 weeks gestation)
cleft lip is an example of
malformation
club foot is an example of
deformation
congenital amputation is an example of
disruption (think something is missing)
absent sweat glands is an example of
dysplasia
when can genetic screening occur?
- prenatal
- pre-conception (before pregnant): screening of selected populations for heterozogyous carriers
- post-conception (after pregnant)
- family medical history: screening of relatives of known carrier or affected individuals within a family, for purpose of reproductive decision making
- newborn
- any time a family asks
pediatric indications for genetic consultation
- family hx (of something metabolic, drug use)
- abnormal newborn screen (PKU)
- abnormal genetic test result
- progressive neurologic condition
- major congenital anomaly
- pattern of major or minor anomalies
- congenital or early-onset hearing/vision loss
- CI or autism
- abnormal sexual maturation or delayed puberty
- abnormally tall/short
- excessive bleeding or clotting
- parental requests
- if baby dies (SIDS), get testing done to determine reason for death
nurse’s role in caring for children and families with hereditary disorders
- apply/integrate genetic knowledge into nursing assessment
- ID and refer clients who may benefit from genetic information or services
- ID genetics resources and services to meet clients’ needs
- providing care and support before, during, and after providing genetic information and services
assessment clues of genetic disorders
- major or minor birth defects and dysmorphic features (think Downs)
- growth abnormalities (not growing/delayed)
- skeletal abnormalities (club foot)
- visual or hearing problems
- metabolic disorders (PKU test)
- sexual development abnormalities (ambiguous genitalia)
- skin disorders
- recurrent infection or immunodeficiency
- development and speech delays or loss of milestones
- cognitive delays
- behavioral disorders
major or minor birth defects and dysmorphic features may indicate
genetic disorder
visual or hearing problems may indicate
genetic disorder
metabolic disorders may indicate
genetic disorder
sexual developmental abnormalities may indicate
genetic disorder
skin disorders may indicate
genetic disorder
recurrent infection or immunodeficiency may indicate
genetic disorder
developmental or speech delays or loss of milestones may indicate
genetic disorder
cognitive delays may indicate
genetic disorder
behavioral disorders may indicate
genetic disorder
skeletal abnormalities may indicate
genetic disorder
growth abnormalities may indicate
genetic disorder