x N209 - Reproductive Health Flashcards
Puberty Onset
Onset 7 - 11 girls / 9.5-13 Boys
Pocess 3-4 yrs long
Af-Am / Latinos start puberty earlier.
Sex Hormone
Estrogen / Testosterone
Sex Hormone
Estrogen / Testosterone
Precocious Puberty
happens in 2 yr instead of 4
Risk Factors: AfAm, Obesity, contact w estrogen/testosterone cream, having other medical conditions involving adrenal gland. hypothyroidism, radiation
Precocious Puberty
happens in 2 yr instead of 4
Risk Factors: AfAm, Obesity, contact w estrogen/testosterone cream, having other medical conditions involving adrenal gland. hypothyroidism, radiation
Female Repro Development
begins 12 - 18
Menstrual Cycle Phase
4-7 days.
no pregnancy occurs, corpeus luteum dies and progerterone drops.
- Proliferative (follicular)
- Secretory (luteal): after ovulation.
Male Puberty
9-15
pituitary secretes hormones to stim testes to secrete testosterone
Sexual Orientation
who you are atracted to sexually
Gender Identity
person’s innate, deeply felt phychological id as a man, woman or other gender.
Pansexual
attracted to any gender or non gendered person, identifying with any sexual orientation
Bisexual population larger
than lesbian, gay
more likely to commit suicide. earn less, etc.
Transsexual
strong desire to assume gender role of oppos sex
Transvestite
person adopts dress and behaviour of opp sex for emotional sexual gratification
Gender Socialization
process thru which individuals learn gender norms of their society and come to develop an internal gender id
Gender Identity
developed btwn 18mos - 3 yrs
Sexual Response Cycle
sequence of physical and emotional changes tha occur as person becauomes sexially arounsed
Sexual Response Cycle
Phase 1: Excitement
Phase 2: Plateau
Phase 3: Orgasm
Phase 4: Resolution (men go through refractory period before they can orgasm again, women do not)
Gonorhea
15 - 24 10 days after exposure .thick cloudy bloody discharge . painful bowel mvmt .discharge
Trichomoniasis
trichomonas vaginallis
no ss, usually vagina infected
5-28days from exposure
green/yello/frothy/ vag itching, burning after urination or efac for men
gluey, sticky rather than creamy
Bacterival Vaginosis
15 - 44
most common infection in women
overgrowth of several types bac normally in vagina upset natural balance.
ss: discharge, grey, thinnish white. fishy smell. after intercourse, yellow white discharge.
burning urination
Genital Herpes
Simplex 1 (cold sore) or 2 (genital)
1/6 14 - 49 have Genital herpes.
first time outbreak flu like ss.
no cure, meds to prevent. can transfer to other parts of body by transferring fluids.
Syphillis
irreperable damage to organ
bacterial infection
Tx: pencillin
.Primary: small chancre sore (painless)
.Secondary: spready through blood, skin, joints etc. highly infectious
.Latent: w no Tx, disase moves latent w no SS. dormant for years
.Tertialr (late: 15 - 30% infeted don’t get Tx. damage to brain, heart, never, eye and more.
HPV
untreated HPV is main cause of cervical cancer.
vaccination
Genital Herpes
.
Viagra, Levitra, Cialis
do NOT increase sex drive, only cause erections when sexually stimulated
.Nitric Oxide? see slide 65, Unit 1
Age related changes to sexuality
as men age, 15-25% of men experience impotence 1/4 times they have sex.
HTN, HD, DM, meds for chronic illness
** Nursing Dx pertinent to Preconception
Slide 66
Mosby’s Guide to Nursing Dx
.Defincient Knowlendge
.Anxiety r/t infertility
.Risk for Situational low self esteem r/t infertility
.Risk for infection r/t infertility tx
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Reproductive Health
UNIT 2
Preconception Period
Reproductive Health
UNIT 2
Preconception Period
Preconception Care:
Defined by the CDC as a set of interventions
aimed at identifying and modifying biomedical, behavioral, and social
risks to a woman’s health or pregnancy outcome through prevention
and management.
Age Related Risk Factors
o Age > 35 – increased risk for infertility, miscarriage, chromosomal
abnormalities
o Adolescents – increased risk for stillbirth, pre-term delivery, low
birth weight
Overweight Ris Factora
.gestational DM .preeclampsia .Infection (i.e. UTI) .post date pregnancy .labor probs .c-section .macrosomia .miscarriage
Macrosomia
large baby born to mother with DM. baby not always also Diabetic.
Macrosomia
large baby born to mother with DM. baby not always also Diabetic.
The babies will be hypoglycemic at first until things level out
Brittle Diabetic
someone who has difficulty managing their blood sugar.
Infertility
inability to conceive after 12 mos
over age 35, trying 6 mos.
affects 1 in 8 couples
2 Types of Infertility
Unexplained infertility: No known cause.
secondary infertility: inability to conceive or carry preg to term after having a child
Impact of Infertility
.loss self worth
.loss stable relationship
.loss work productive
…….
Semen Analysis
Most important Dx testing for Male infertility
. Volume – 25 ml is a normal volume
. Count – 40-300 million is normal range
. Motility and velocity
. 50% should be active
. Quality of movement (0-4; 2 or more is satisfactory)
. Liquefaction – Failure to coagulate and then liquify
. Cultures – Bacteria or STDs
Kruger Morphology test
a Dx testing for Male infertility
Examines shape and size of sperm head
Normal 14% or more have normal head. <4% equals significant probs
Types of Infertility Tx
.Treat infections .Hormone tx for men .ovulation stimulating for women .IUI (intrauterine insemination) .ART (Assisted reproductive tech)
Types of ART (Assisted Reproductive Tech)
.IVF, in vitro (fertilize egg and sperm in lab)
.ICSI (Intracytoplasmic sperm injection), inject 1 sperm into egg
.donor egg or sperm
.gestational carrier
Risks to Infertility Tx
.multiple preg .ovarian hyperstimulation syndrome .infection .pre term delivery .lo birth weight .UP risk for heart, digestive, cleft lip/palate probs
Nursing Dx’s related to Human Sexuality
.Deficient knowledge: r/t safe sex practices, birth control, medication side effects,
age-related sexual disorders
.Anxiety: r/t sexual dysfunction, STD diagnosis
.Altered oral mucous membranes: r/t HSV
.Risk for latex allergy response: r/t STD prevention barrier methods
.Impaired tissue integrity: r/t menopausal changes
.Dysfunctional family processes: ineffective sexuality patterns r/t religious/cultural
beliefs, sexual dysfunction, sexual identity issues
Unit 3
Start
Unit 4
Intrapartal
Gravida
of pregananceis
Para
of pregnancies beyond 20 wks (multiples count as one)
Nulligravida
never been pregnant
Primigravida
first pregnancy
Primapara
first birth
Multipara
two or more pregnancies with viable offspring
Multigravida
two or more pregnancies
Labor
series of rhythmic contractions causing effacement and dilation of cervix
EDC
Estimated date of confinement
EDD
Estimated due date
Naegele’s Rule
calculate EDC
First day of LMP + one year, subtract 3 months, and add 7 days
280 days from LMP
Cervical Dilation
1-10
Engagement
when largest part of head enters birth canal
Presentation
the way a baby is positioned to come down birth canal.
Station
presenting part is in pelvis
Stages of Labor
Stage 1: 2 Phases, Latent and Active
onset of labor.
Stage 2: full dilation to deliver
Stage 3: delivery of baby to deliver of placenta
Lightening
Baby “drops” into pelvis
Leopold’s Maneuver
palpate to determine fetal position
Fetal Heart Rate Monitoring
Auscultation w fetoscope or doppler
Electronic Fetal Monitoring in response to contractions. Internal, external or combo.
External Fetal Monitor
- Tocodynamometer (measures tension across abdomen during contractions)
- Ultrasound Transducer (records FHR)
Internal Fetal Monitor
Scalp Electrode: on fetal scalp, closest to cervix.
IUPC (Intrauterine Pressure Catheter), inserted into amniotic space to measure contraction strength
Fetal Heart Rate
Baseline: 110-160bpm
Tachy: >160bpm
Brady: <110 bpm
Variability
.Minimal Variability = <5 bpm
.Moderate Variability = 6 to 25 bpm
.Marked Variability = >25 bpm
Early decelerations
Associated with fetal head compression
Variable decelerations
Associated with cord compression;
most common pattern in labor
Late decelerations
Associated with uteroplacental insufficiency
(PROM) Premature Rupture of Membranes
rupture of membrane before onset of labor
Umbilical cord prolapse
umbilical cord in front of presenting part
Amniotic fluid embolism
entrance or amniotic fluid and fetal cells in maternal circulation
Fetal dystocia
abnormal fetal size or position = diff delivery
Inverted Uterus
uterus inside out and protrudes into vagina
Placenta Accreta
abnormally adherent placenta, grow into myometrium
Protracted Labor
abnormally slow dilation or descent
Uterine rupture
full thickness rupture of uterine wall and overlying visceral peritoneum
Placental abruption
detachment of placenta from uterine wall (complete or partial)
Occiput posterior
The fetal neck is flexed; most common
abnormal presentation
Face or brow presentation
fetal head hyperextended
Normal presentation
Vertex with occiput anterior
Frank
buttocks before head
Complete
Fetus sitting w hips and knees flexed
footling
one or both left extended and present before butt
Fetal Lie
relationship btwn long axis of fetus to long axis of mother
Transverse
long axis of fetus horizontal to long axis of mother
Oblique
no presenting part
Shoulder dystocia
The presenting part is vertex, but the fetal
shoulder becomes lodged behind symphasis pubis after delivery of
the head
Turtle sign
The fetal head is delivered but pulls back tightly
against perineum
maneuvers for Shoulder Dystocia Delivery
.McRoberts Maneuver: The mother’s thighs are hyperflexed and
suprapubic pressure is applied
.Wood Screw Maneuver: The physician or midwife inserts a
hand into vagina posteriorly and presses on the posterior shoulder
to rotate the fetus
.Zavanelli Maneuver: If all attempts are unsuccessful, the
infant’s head is flexed, replaced back, and rotated into the vagina
followed by C-section delivery
Cesarian Section
30-32% of deliveries.
Types of Incisions
.Classical
.low transverse (most common)
.low vertical
TOLAC
trial of labor after cesarean
risk of uterine rupture
Induction
scheduled if necessary AFTER 39 weeks
best practice, Bishop Score of 8 or up
use cervical ripening agents (Cervidil, Prostaglandin Gel prior to induction)
Bishop Score
.evaluates readiness of cervix
.use 5 measurements: dilation, effacement, station, consistency, position
.score of less than 6: cervix is unfavorable “unripe” for induction
.score of 8 and up: favorable cervix “ripe”w good chance of vaginal delivery
Nursing Dx’s
.Risk for disturbed maternal-fetal dyad r/t prolonged second stage of
labor, cephalopelvic disproportion, premature rupture of membranes
.Impaired urinary elimination r/t regional anesthesia
.Deficient knowledge r/t labor, fetal monitoring, pain control options
.Anxiety r/t labor complications, anticipated labor pain, childbirth,
parenting
.Risk for infection r/t C-section, prolonged rupture of membranes
Postpartal Family
Unit 5
Postpartum Period
4th stages of labor
.Also known as puerperium or puerperal period
.up to six weeks after delivery
.anatomic and physiologic changes of pregnancy reversed.
.body returns to prepregnant state
Stages of Postpartum
- Initial/Acute
6-12hrs pp, rapid changes, potential for complications, shivering 25-50% up to 60 min. - Subacute
2-6wks, less rapid change back to prepreg. change in hemodynamic, genitourinary, emotional, matabolism - Delayed PP
up to 6mos, gradual changes, complications rare, muscle tone, connect tissue back to prepreg state,
Uterine Involution
begins during 3rd stage labor. back to prepreg size by 4-6wks.
Lochia
Rubra: dk red, bloody discharge, first 3-4days, may have clots
Serosa: pink/light brown, watery discharge, 3-10d pp
Alba: white/yellow discarge, 7-10d - 5-6wks
Lochia amounts
o Scant: 1” stain on peri pad (approximately 10 ml)
o Light or small: 1-4” stain (approximately 10-25 ml)
o Moderate: 4-6” stain (approximately 25-50 ml)
o Heavy/large: Saturate pad within one hour
Cervix closes to about 1 in how long pp?
1 week
Pelvic Floor Support
may not rever to pregreg state
Breast
o Lactogenesis: Initially triggered by delivery of placenta
o If not breastfeeding, prolactin levels decrease and return to normal
within 2-3 weeks
o Colostrum is produced during the first 2-4 days
o Suckling stimulates milk ejection and oxytocin release, which then
stimulates milk production
Cardiovascular Changes
o Increase in blood volume of 50% at time of delivery
o Average blood loss is 400-500 ml for vaginal delivery; 750-100 ml for
C-section
PP Depression
lasting longer than 2wks pp and interferes with ADL.
10-15% women
Parental Stages
- Bonding: 1-2d pp
- Taking Hold: mother assumes responsibility, father may feel neglected
- Letting Go: couple acknowledge loss of lifestyle prior to baby. adjust and learn to care for baby
PP Lacerations: classified according to depth
First degree: Skin and subcutaneous tissue of vagina and perineum;
muscles intact; may not require repair
Second degree: Vaginal mucosa and perineal muscle involvement;
usually extends midline towards anus
Third degree: Second degree extending into anal sphincter
Fourth degree: Most severe; extends into rectum
Third and fourth degree lacerations: Associated with increased pain,
infection, bleeding, and anal incontinence
Periurethral laceration: Tear into the area around the urethra
o Must be carefully repaired to avoid urethral damage; often catheter is
inserted for repair
Cervical tear: May cause significant bleeding
o Risk factors: Precipitous labor, operative vaginal delivery, manual
dilation of cervix or previous cerclage placement
o Often diagnosed with postpartum hemorrhage despite well-
contracted uterus
Vaginal wall tear: Usually seen with forcep delivery
o Can have significant blood loss if undiagnosed or untreated
Hematomas
vulvovaginal (most common), paravaginal, retroperitoneal (most dangerous)
PP Hemorrhage
loss of more than 500ml blood after delivery
severe > 1,000ml
most common life-threatening condition in pregnancy
25% morbidity worldwide
if already severly anemic, poss hypovolemic shock and/or death prior to 500ml loss.
Tx: uterine massage, manual extrac of placental, clots. Meds (pitocin, methergine, cytotec
PP Hermorrhage Risks
-long 3rd state labor .multiple delivery .macrosomia .hx of pp hemorrhage .episiotomy
Puerperal Infections
6th leading cause of maternal death
bacterial infection, 24-72hr pp. usually after c-section.
SS: uterine tenderness, pelvic pain, fever, malais, foul smelling lochia
Tx: abx
PP Meds
Methergine: UP uterine contractions, UP tone. control bleeding: NEVER B4 delivery
Pitocin (Oxytocin): : favorite
Analgesic, Comfort
Cold Stress
excessive heat loss causing newborn to compensate to maintain temp.
Brown Fat
only in newborns
oBegins to form towards the end of second trimester (between 26-
30 weeks), and increases until 2-5 weeks after birth or stores are
depleted
oLocated in midscapular area, neck, axilla
oDeeper stores are located around trachea, esophagus, aorta,
kidneys, and adrenal glands
Foramen Ovale
changes from fetal circulation to neonatal circ. From placental to pulmonary gas exchange
Moro
when infant is startled of feels like they are falling. arms flail, palms up, thumb flexed.
Suckling
suck when touched around mouth
Rooting
w turn towards side which cheek stroked
Step
stepping motion when foot touches hard surface
NeoNate Senses
Hearing: Developed at birth; can respond to sound by turning towards
it
Taste: Develops by 72 hours of age
Smell: Can tell mother’s breast milk
Vision: The least mature sense; can focus only within 7-12”
Behavioral Adaptation: Two reactive periods with one sleep period
First reactive period: Birth to 30 minutes of life
o Alert, suckling, rooting
o Allows bonding and breastfeeding
Gastrointestinal Adaptation
.mature at 36-38 wks gestation
.6ml stomach capacity at birth. UP to 90ml by eoweek.
.no amylase for fat digestion for first few months
.LO production lipase, bile
.
Gastro Adaptation (contd)
Immediately after delivery, air enters the stomach; reaches small
intestine by 12 hours of age
Bowel sounds are present within 15-30 minutes due to air entry into
stomach
Salivary glands are immature at birth; decreased saliva for first three
months
Cardiac sphincter (between stomach and esophagus) is immature,
making regurgitation common
Infant Nutritional Needs
Fluid Requirements:
o 60-80 ml/kg during first 24-48 hours
o Increases to 100-150 ml/kg within a few days
Caloric Requirements:
o Up to two months: 110-120 kcal/kg (50-55 kcal/lb)
o After two months: Declines gradually to 100 kcal/kg (45 kcal/lb) by 1
year
o Depends upon infant’s activity level (i.e., frequent crying, squirming)
VIT K after birth
o Given after birth to prevent hemorrhagic disease of the newborn
o Newborns are inherently vitamin K deficient at birth and have a
decreased ability to effectively metabolize vitamin k
o Withholding of vitamin K at birth increases the risk of late onset
(between 2-6 months of age) vitamin K deficiency bleeding by 81
times per HealthyChildren.org
o Dosage: 0.5 – 1 mg IM single dose
Prematurity
cause of 35% infant deaths
Postmaturity
born after 42wks
Complications: o Loss of vernix (loss of protective covering to skin; leads to dry, scaly skin) o Fetal weight loss o Passing of meconium in utero o Fetal distress o Fetal death Warning signs: Decrease in fundal height, decreased AFI
Fetal Spectrum Disorder (Fetal Alcohol Spectrum Disorder)
abnomal features
small head, short, hyperactive, poor memory, learning disab, low iq, eye/ea probs, heart/kidney/bone probs
no cure, early intervention improves development
FASD Features
microcephaly, low nasal bridge, epicanthal folds, smooth philtrum, thin upper lip
NDs for PosPartal Family
Risk for bleeding: r/t retained placenta, uterine atony, cervical tear
Impaired urinary elimination: r/t regional anesthesia, extensive
perineal repair
Deficient knowledge: r/t postpartum care, newborn care
Interrupted breastfeeding: r/t prematurity, congenital anomaly,
maternal complication
Risk for infection: r/t retained placenta, mastitis, C-section
Needs of Childbearing Family
Unit 6
Ventral Septal Defect
.most common
.hole in heart
.blood leaks from left to right ventricle
Atrial Septal Defect
Atrias connected
UP blood to lungs
usually in down syndrome
Patent Ductus Arteriosus
http://www.registerednursern.com/patent-ductus-arteriosus-pda-nclex-questions/
duct connecting pulmonary artery to aorta, skipping lungs since fetal lungs not operational. After birth, duct should close. Aorta to Pulmunary Artery
SS: vary depending on size of opening
.mostly no ss
.most common in PREMI’s
CALL C-Cardiac, continuous machine like murmor (left upper sternal border) .Wide pulse pressure .easy fatigue .Endocarditis, UP HR .Heart Failure, crackles, dyspnea A- activity intolerance L- lung issues (HTN, infection) L- loss weight
MED: Indomethacin
Tetralogy of Fallot
‘Blue Baby Syndrome’
http://www.registerednursern.com/tetralogy-fallot-nclex-questions/
FOUR structural defects of heart
.most common complex defect. form in utero
.cyanotic heart defect
RAPS .Right ventricular hypertrophy .Aorta displacement .Pulmonary Stenosis .Septal defect (ventricle)
SS: AFFLICT .Activity, cyanosis, SOB, 'Tet Spell' .Fingernail: CLUBBING .Fatigue/Faint easily ***.Lift knee to chest/(squat) .Inability to grow .Cardiac sounds .Trouble feeding/thriving .murmur near pulmonic valve (left )
TX:
Sx to dix structure
MED: ALPROSTADIL (prostaglandin) to keep ductus arteriosis open.
Squatting with Tet de Fallot`
increases vascular resistance.
reduces RIGHT to left shunt flow
Flow of Heart
http://www.registerednursern.com/quiz-on-the-blood-flow-of-the-heart-anatomy-physiology-pathophysiology/
Pulmonary Stenosis
narrowing of pulmonary vale from R ventricle to pulmonary artery
SS:
serious, HFailure, R sided heart enlargement
Aortic Stenosis
interferes w blood flow to Aorta
Cause: heart enlargement, L side heart failure, arrhythmias, endocarditis
SS: heart murmur, asymptomatic
severe: heart failure in first days of life
TX: Valvuloplasty/Valve Replacement
Coarctation of Aorta
narrowing in section of aorta
LARGEST artery. blood from lungs to body.
AORTA
.Ascending: coronary arteries
.Aortic Arch: head, neck, upper extremities
.Descending: chest structures
.Abdominal Aorta: organs, lower extremities
TYPES:
-Preductal (infantile) narrowing betwn l subclavian and ductus arteriosis
-Postductal (adult type): narrowing after the ductus arteriosis
SS: pale skin, irritability, diff bore, nose bleed, h/a, stroke,
LO BP in lower extremities, HI SP in upper
Heart Murmur, on BACK
Rib notching, creates new blood vessels to by pass the stenosis
MED: Prostoglandin infusion.
Digoxin
Diuretics
Transposition of Great Vessels
TGA
SWAP
Severe Cyanosis (LO O2, UP HR, UP RR, poor feeding, poor growth, cool extremeties
Watch HR, rythym, O2,prepare for intervention
ALPROSTADIL (Prostoglandin E) infusion to KEEP connection to Aorta and PA and keep Ductus Arteriosis open.
Procedures to correct. temporary balook atrial septesomy. Arterial Switch Procerdure (premanent)
Hypoplastic Left Heart Syndrome
o Life-threatening condition where the left side of the heart is
underdeveloped (aorta, aortic valve, left ventricle, and mitral valve)
o Results in decreased oxygenation
o Normal blood flow while ductus arteriosus remains open, but when DA
closes oxygen level decreases
o S/S: Cyanosis, respiratory and feeding problems
o Treatment: Heart transplant or extensive surgery
Truncus Arteriosus
aka ‘common truncus’
usually accompanied by VSD.
o Rare defect where there is a single vessel (truncal valve) coming from
the heart instead of both the main pulmonary artery and aorta
o Truncal valve is often abnormal (too thick, narrow or leaky)
o Different types depending upon how arteries remain connected
o Treatment: Surgery soon after birth
Tricuspid Atresia
Ticuspid valve not formed. no right atrium to ventricle flow.
o Leads to severely underdeveloped right ventricle
o Survival depends upon presence of VSD or PDA to allow circulation to
the lungs
o Treatment: Requires surgery in the first few days of life
Cystic Fibrosis
second most common inheritied disorder. Sickle cell 1st. common in whites.
autosomal recessive. one gene per parent
id w prenatal screening
TX: postural drainage, percussion, inhaled meds, abx, anti inflam meds, lung transplant, dietary change
leading cause of death, chronic respiratory infection
Esophageal Atresia
incomplete esophagus
SS: cyanosis, choking/gagging while feeding, drooling
Tx: Sx
PostOp: Prone position with HOB elevated 30-40 degrees; right side is down
to enhance gastric emptying
Tracheosophageal Fistula (TUF)
100% survival rate if no other severe congenital anomalies
SS; feeding probs, distended abdomen, vomiting
Biliary Atresia
Incomplete bile ducts with blockage of bile from the liver to gallbladder
o Bile is then trapped within the liver, causing scarring (cirrhosis)
o Can eventually lead to liver failure
TX: Sx, Kasai Procerdure
SS: jaundice, dark urine, clay colored stools d/t lack of bilirubin reaching intestines, weight loss, irritability
DX: liver biopsy
Diaphragmatic Hernia
hole in diaphragm allows movement of gastric organs into chest cavity.
Hirschprung Disease
aka
Congenial aganglionic megacolon
Obstruction of distal colon resulting in megacolon.
no ganglion cells/nerves to assist with peristalsis down the rectum. No signal to relax intestinal wall remains contracted.
SS: failure to pass meconium in first 24hrs, abdominal distension. , diarrhea, vomit
“Blast sign”: Occurs in older infants; no stool palpated in rectum on
exam but there is an explosive passing of stool after the finger is
removed (stool is usually high up in the colon)
Tx: Laparoscopic sx repair
Pyloric Stenosis
Thickening of the pylorus muscles between the stomach and small
intestine
S/S:
• Projectile vomiting, usually within 30 minutes after a feed
• Persistent hunger and weight loss
• Dehydration (not tears and decreased wet diapers)
• Constipation (because food cannot reach the intestines)
Dx: o Diagnosis: Confirmed on US; may feel a lump on the abdomen over
pyloric muscle with palpation due to enlargement
o Treatment: Surgery
• Pyloromyotomy: Done laparoscopically; usually successful with
few complications
Phenylketonuria (PKU)
People not able to convert Phenylalanine to Tyroside.
needs low protein diet. eliminate milk, cheese, milk
SS: S/S: Normal at birth with development of symptoms over months as
the phenylalanine accumulates, Severe intellectual disability, gait disturbance, hyperactivity, psychosis, body odor, eczema
Tx: life time diet restriction
NO croissants, red meat, chicken, eggs
Take amino acide 3x/day
Hypospadius
abnormal formation of urethra where opening is below end of penis
- Subcoronal: Opening of urethra is near head of penis
- Midshaft: Opening is located along the penile shaft
- Penoscrotal: Opening is where the penis and scrotum meet
Hydrocele
fluid filled sac surrounding testicle, swelling in scrotum
- Non-communicating: Sac closes and normally fluid is reabsorbed;
fluid remains after sac closes but is usually absorbed in the first year
of life - Communicating: Sac remains open and fluid can flow back into the
abdomen; often associated with inguinal hernia
Muscular Dystrophy
group of genetic disorders that result in progressive muscle weakness
and loss
Duchenne, most common
Spina Bifida Types
-Occulta (moss common) one or more vertebrae are malformed. mildest form. covered by skin.
-Closed NTDs ( there are spinal cord malformations in fat, bones or
meninges; usually no or few symptoms, but some closed NTDs can result in
incomplete paralysis with urinary and bowel problems)
-Meningocele ( Protrusion of spinal fluid and meninges through abnormal
vertebrae; may or may not be covered with skin and s/s are same as with
closed NTDs)
-Myelomenigocele (fluid filled protrusion, sac and spinal cord exposed.
most common?)
Anencephaly
most sever NTD
neural tube, doesn’t copletely close, missing parts of brain, skull and scalp.
Live on few hrs after birth.
girls
Down Syndrome
defect involving extra chromosome 21.
Screening:
.Nuchal Translucency via US
.NIPT: eval circulting fetal DNA in maternal blood
Dx:
o Chorionic Villus Sampling (CVS)
o Amniocentesis
o Percutaneous Umbilical Cord Sampling (PUBS)
Down Syndrome: Types
o Trisomy 21: 95% of cases; there are three copies of chromosome 21
instead of two
o Translocation Down Syndrome: 3% of cases; extra chromosome 21
attached to a different chromosome
o Mosaic Down Syndrome: 2% of Down’s; some cells have three copies
of chromosome 21, but other cells are normal (often have fewer
features of Down Syndrome due to the presence of normal cells)
Down Syndrome Physical Characteristics
o Hypotonia
o Flattening of the bridge of the nose
o Eyes that are slanted upward with epicanthal folds at inner corners
o Large, protruding tongue
o Simian crease in palms
o Mean IQ of 50
o ADD in childhood, depression is common in both children and adults
Turner Syndrome
only affects GIRLS
partially or completely missing X chromosome
Physical Char:
Have female sex characteristics which are underdeveloped
o Short, webbed neck
o Shorter stature
o Ovaries are missing or do not function properly
o Pregnancy in 95% of patients can only occur with ART (most are
infertile)
o Most do not start puberty naturally
o Underdeveloped breasts due to lack of estrogen
TX:
growth hormone, estrogen
Edwards Syndrome (Trisomy 18)
o Caused by an extra copy of chromosome 18
o Occurs in 1:5000 births
o Serious heart, brain and organ defects along with severe intellectual
disability
o Characteristics: Small, abnormally shaped head, small jaw and mouth,
clenched fists with overlapping fingers
o Survival is less than one year; many die before birth or within the first
month of life
Patau Syndrome (Trisomy 13)
o Caused by an extra copy of chromosome 13
o Occurs in 1:16,000 newborns
o Heart, brain and spinal cord defects
o Characteristics: Extra fingers or toes, cleft lip with/without cleft palate,
hyptonia
o Only 5-10% live past first year of life
Klinefelter Syndrome
o Caused by an extra X chromosome in males (XXY)
o Occurs in 1:500-1000 newborn males
o Affects male physical and cognitive development
o Have small testes that do not produce adequate testosterone
o Characteristics: Incomplete puberty, breast development,
decreased body hair, infertility
o May also have learning disabilities, delayed language and speech
Fragile X syndrome
o Caused by mutations in the FMRI gene (inherited in an X-linked
dominant manner
o Causes learning disabilities and cognitive impairment
o Affects males more severely than females
o One-third of those with fragile X have features of autism disorder
(communication and social difficulties)
o Characteristics: Long, narrow face, large ears, prominent
jaw/forehead, unusually flexible fingers; in males, especially large
testes
o May also have anxiety and ADD
o Women with pre-mutation have in increased risk to have a child with
Fragile X
o Men with pre-mutation will pass it on to all of their daughters and
none of their sons (because boys receive only a Y chromosome from
their fathers)
Cerebral Palsy Types
85-90% of cases of cerebral palsy are congenital, occurring before or
during birth
Aquired: more than 28 days after birth due to
infection or injury
Types:
1. Spastic: The most common type; 80% of those with CP
•Increased muscle tone with stiff muscles
• May see “scissoring” with walking
• Can affect one side of the body, the legs or all 4 extremities with trunk and
faced included
85
Cerebral Palsy (Continued)
Types (Continued):
2. Dyskinetic: Problems controlling movement of all four extremities
3. Ataxic: Problems with balance and coordination
• Difficulty walking, sucking, swallowing, and talking
• Difficulty walking, writing, and reaching for objects
4. Mixed: The most common is spastic-dyskinetic
SS:
S/S in newborns:
o Head lag when picked up
o May feel stiff or floppy
o Over-extension of back and neck when held
o Stiff legs or scissoring when picked up
Sickle Cell Disease
.A group of inherited red blood cell disorders, resulting in hard, sticky,
“sickle-shaped” red blood cells
o The sickle cells die early, causing a shortage of RBCs
o They also can get stuck traveling through small blood vessels causing
occlusion
Sickle Cell Types
o HbSS: The most severe form; also referred to as Sickle Cell Anemia;
child inherits one sickle cell gene from each parent
o HbSC: A milder form of SCD; child inherits one sickle cell gene from
one parent, and an abnormal hemoglobin gene called “C”
from the other parent
o HbS beta thalassemia: The child inherits one sickle cell gene from one
parent and one gene for beta thalassemia from the other parent
ND re Congenital, Genetic, Developmental Issues
o Deficient knowledge: r/t caring for child with congenital anomaly
o Ineffective infant feeding pattern: r/t cleft lip/palate
o Risk for decreased cardiac tissue perfusion: r/t aortic stenosis,
patent ductus arteriosus, ventral septal defect, etc.
o Deficient knowledge: r/t care of the newborn with congenital
anomaly
o Grieving: r/t fetal condition incompatible with life
Reproductive Disorders
Unit 7
Menses
begins 11-16
Phases:
o Follicular: FSH, LH, and estrogen stimulate egg production; one
dominant egg within follicle remains to move on to ovulation
o Ovulatory: Midpoint of cycle; egg is released from ovary
o Luteal: Follicle, now empty, forms corpus luteum; corpus luteum
secretes estrogen and progesterone to prepare for implantation; if
no fertilization occurs, then the lining is shed and the menstrual
period begins
