Week 1 - NCMA 219 Lec
Week 1 - NCMA 219 Lec
Week 1 - NCMA 219 Lec
● NATURE OF INHERITANCE
● MENDELIAN INHERITANCE
● DOMINANT PATTERN
● RECESSIVE PATTERNS
● INHERITANCE OF DISEASE
Genetic Disorders
- Inherited or genetic disorders are disorders that can
be passed from one generation to the next.
- They result from some disorder in a gene or chromosome st
of newborns.
- Genetic disorders may occur when an ovum and sperm fuse
or even earlier, in the meiotic division phase of the
gametes (ovum and sperm).
Genetics
- Is the study of the way such disorders occur.
Cytogenetics
- is the study of chromosomes by light microscopy and the
method by which chromosomal aberrations are identified.
History
- There is usually a history of the disorder family
Member
Both Parent
Both parents of a child with th
free of the disorder
Sex
the sex of the affected individual is unimportant in
terms of inheritance.
History
The family history for the disorder is negative
that is, no one can identify anyone else who had it
(a horizontal transmission pattern).
Ancestor
A known common ancestor between the parents
sometimes exists. This explains how both males and came
to possess a like gene for the disorder
Affected
All female children of affected men are affected;
all male children of affected men are unaffected
Generation
It appears in every generation
Homozygous/ Heterozygous
All children of homozygous affected women are affected
Fifty percent of the children of heterozygous affected women
are affected.
Males
Only males in the family will have the disorder
History of death
A history of girls dying at birth for unknown
reasons often exists (females who had the
affected gene on both X chromosomes).
Unaffected
Sons of an affected man are unaffected
Parents
The parents of affected children do not have the
disorder
MULTIFACTORIAL (POLYGENIC) INHERITANCE
❖ MANY CHILDHOOD DISORDERS TEND TO HAVE HIGHER
❖ THAN USUAL INCIDENCE
❖ OCCUR FROM MULTIPLE GENE COMBINATIONS POSSIBLY COMBINED
❖ WITH ENVIRONMENTAL FACTORS
❖ DO NOT FOLLOW THE MENDELIAN LAWS
❖ NO SET PATTERNS IN FAMILY HISTORY
DELETION ABNORMALITIES
PART OF THE CHROMOSOMES BREAKS DURING CELL DIVISION CAUSING THE
AFFECTED PERSON TO HAVE AN EXTRA PORTION OF A CHROMOSOME.
IN TRANSLOCATION ABNORMALITIES
A CHILD GAINS ADDITIONAL CHROMOSOMES THROUGH ANOTHER ROUTE .
ISOCHROMOSOMES
RESULTS FROM CHROMOSOME ACCIDENTALLY DIVIDING NOT BY VERTICAL
SEPARATION BUT BY HORIZONTALLY SO A NEW CHROMOSOME WITH
MISMATCHED LONG AND SHORT ARMS
MOSAICISM
- AN ABNORMAL CONDITION THAT IS PRESENT WHEN THE NONDISJUNCTION
DISORDEROCCURS AFTER FERTILIZATION OF THE OVUM AS THE STRUCTURE
BEGINS MITOTIC DIVISION.
GENETIC COUNSELLING
❖ PROVIDE CONCRETE, ACCURATE INFORMATION ABOUT
THE PROCESS OF INHERITANCE AND INHERITED DISORDERS
❖ REASSURE PEOPLE WHO ARE CONCERNED THAT THEIR CHILD MAY INHERIT
A PARTICULAR DISORDER OR THAT THE DISORDER WILL NOT OCCUR
❖ ALLOW PEOPLE WHO ARE AFFECTED BY INHERITED DISORDERS TO MAKE
INFORMED CHOICE ABOUT FUTURE REPRODUCTION
❖ ANY WOMAN OLDER THAN 35 YEARS AND ANY MAN OLDER THAN 55 YEARS
NURSING RESPONSIBILITIES
➢ EXPLAIN WHAT PROCEDURES TO UNDERGO
❖ Against a woman with whom the person has or had sexual or dating relationship
Types of Abuse:
❖ Physical violence
❖ Sexual violence
❖ Psychological violence
❖ Economic abuse
Protection Order
1. Barangay Protection Orders (BPO
2. Temporary Protection Orders (TPO)
3. Permanent Protection Order (PPO)
HIGH-R
❖ Threate
❖ Concur
jeopardizes the health of the mother, the fetus, or both.
Screening Procedures
❖ Ultrasonography
❖ Biparietal Diameter
❖ Doppler Umbilical Velocimetry (DOPPLER US)
❖ Placental grading
❖ Amniotic Fluid volume assessment
❖ Electrocardiography
❖ Magnetic Resonance Imaging
Screening Procedures
❖ Maternal Serum Alpha-Fetoprotein
❖ Triple Screening
❖ Chorionic villus sampling
❖ Amniocentesis
❖ Percutaneous umbilical cord
blood sampling
❖ Amnioscopy
❖ Fetoscopy
❖ Biophysical profile
BLEEDING DISORDER
ABORTION
- Termination of pregnancy before the age of viability
usually before 20 24 weeks
- Miscarriage
Causes
● Defective ovum/ congenital defects
● Unknown causes
MATERNAL FACTORS
● Viral infection
● Malnutrition
● Trauma
● Congenital defects of the reproductive tract
● Incompetent cervix
● Hormonal
● Increased temperature
● Systemic diseases in the mother
● environmental hazards
● Rh incompatibility
Types
Spontaneous abortion
- Without medical or mechanical intervention
- is the loss of pregnancy naturally before twenty weeks of gestation.
Induced abortion
- With the medical or mechanical intervention
- Only allowed for medical indications
- If continuation of pregnancy is a risk to the life of the woman
- At least two medical doctors should reach the decision and sign
Legal Aspects
- Elective abortions are unlawful, considered a criminal act
- Perforation of uterus, intestines, urinary bladder
INDUCED ABORTIONS
- Severe hemorrhage w/c may lead to hypovolemic shock
COMPLICATIONS
- Sepsis and its associated complications,
Treatment
❖ Surgery
❖ Antibiotics
❖ Blood, plasma, fluid replacement
❖ Habitual abortion:
- Determine etiology
- Treatment of underlying causes
- Cerclage operation/ cervical closure for incompetent
cervix ( McDonald surgery,shirodkar-Barter surgery)
❖ Blood tests
ECTOPIC
PREGNANCY
- A condition where the pregnancy develops outside the uterine cavity.
Types:
- Tubal (Fallopian tubeInterstitial isthmic ampulla, in infundibulum & fimbrial portion)
- Cervical
- Abdominal
- Ovarian
Assessment findings
❖ Amenorrhea or abnormal menstrual period\
spotting
❖ Early sign of pregnancy
- Tubal rupture sign
- Sudden, acute low abdominal pain
radiating to the shoulder (Kehr’s sign)
or neck pain
❖ Nausea and vomiting
❖ Bluish navel (Cullen’s sign)
❖ Rectal pressure
❖ Positive pregnancy test (50%)
❖ Sharp localized pain when the cervix is touched
❖ Signs of shock/ circulatory collapse
DIAGNOSTIC
1. Ultrasonography
2. Culdocentesis
3. Laparoscopy
4. Serial testing of HCG beta-subunit
LABORATORY FINDINGS
➔ Low hemoglobin and hematocrit
➔ Low HCG (normal value at its peak: 400,00 IU/
24 hours)
➔ Elevated WBC
TREATMENT
➔ (UNRUPTURED) methotrexate leucovorin
➔ Surgical removal of ruptured tube
(SALPHIGECTOMY)
➔ Antibiotics
NURSING MANAGEMENT
RISK FACTORS:
★ Low protein intake
★ Women older than 35 years old
★ Asian women
★ Women with a blood group of A who marry men with blood
group O
PATHOPHYSIOLOGY
➢ Fertilization occurs as the sperm enters the ovum. In instances of a partial
mole, two sperms might fertilize a single ovum.
➢ Reduction division or meiosis was not able to occur in a partial mole. In a
complete mole, the chromosome undergoes duplication.
➢ The embryo fails to develop completely. There are 69 chromosomes that
develop for the partial mole, and 46 chromosomes for the complete mole.
➢ The trophoblastic villi start to proliferate rapidly and become fluid filled
grapelike vesicles.
ASSESSMENT FINDING
➔ Brownish or reddish, intermittent or profuse vaginal bleeding by 12 weeks
➔ Expulsion, spontaneous, of molar cyst, usually occurs between the 16 th to 18th
weeks of pregnancy
➔ Rapid uterine enlargement inconsistent with the age of gestation
➔ Symptoms of PIH before 20 weeks
➔ Excessive nausea and vomiting because of excessive HCG
(1 to 2 million IU/L/24 hours)
➔ Positive pregnancy test
➔ No fetal signs–heart tones, parts, movement
➔ Abdominal pain
DIAGNOSIS
➔ Passage of vesicles – 1st sign that aids to diagnosis
➔ TRIAD signs:
- Big uterus
- HCG greater than 1 million
- Vaginal bleeding
➔ Ultrasound
➔ Flat plate of the abdomen done after 15 weeks
PROGNOSIS
➢ 80% remission after D & C; may progress to cancer of the chorion:
- Choriocarcinoma
TREATMENT
❖ Evacuation by Suction D & C or hysterectomy if no
spontaneous evacuation
❖ Hysterectomy if above 45 years old and no future
pregnancy is desired or with increased chorionic
gonadotropin levels after D & C
❖ HCG titer monitoring for one year (no pregnancy for
1 year)
❖ Medical replacement: blood, fluid, plasma
❖ Chemotherapy for malignancy: Methotrexate is the d
of choice
❖ Chest X-ray
NURSING MANAGEMENT
➔ Advise bed rest
➔ Monitor VS, blood loss, molar/ tissue passage, I & O
➔ Maintain fluid and electrolyte balance, plasma, and blood volume
through replacements as ordered
➔ Prepare for suction D & C, hysterotomy or hysterectomy as indicated
➔ Provide psychological support
➔ Prepare for discharge
➔ Emphasize need for follow
up HCG titer determination for 1 year
➔ Reinforce instructions on NO PREGNANCY FOR ONE YEAR; give instructions
related to contraceptions
Risk factors
➢ CONGENITAL INCOMPETENCE
- Diethylstilbestrol (DES) exposure in-utero
- Women with a bicornuate uterus
➢ ACQUIRED INCOMPETENCE
- Inflammation
- Infection
- Subclinical uterine activity
- Cervical trauma
- Increased uterine volume
ASSESSMENT FINDING
- Painless contractions
resulting in delivery of
a dead or non-viable fetus
- History of abortions
- Relaxed cervical os on
pelvic examination
TREATMENT
CONSERVATIVE M
- Bed rest; avoidance of heavy lifting; no coitus
FOR
WOMEN WITH
Nursing management
● Maintain bed rest, LLR
● Careful monitoring: Maternal VS, FHT, Labor onset/ progress, I & O,
oliguria/ anuria, uterine pain, bleeding
● Administer IV fluids, plasma, or blood as ordered
● Prepare for diagnostic examinations
● Provide psychological support
● Prepare for emergency birth
● Observe for associated problems after delivery:
- Poorly contracting uterus
- Disseminated Intravascular Coagulation
- Hypofibrinogenemia
- Prematurity, neonatal distress
Etiology
- In >30% cases the exact cause of preterm labor is not known
- Occurs approximately 9 - 11% of all pregnancies
- Any woman having persistent uterine contractions
- (4 every 20minutes)
Risk factors
- Maternal factors
- Maternal infection, illness or disease, DM
- Premature rupture of membranes (PROM)
- Bleeding
- Uterine abnormalities/ overdistention,
incompetent cervix
- Previous preterm labor, spontaneous or induced
abortion, preeclampsia, short interval (less than 1 year) between pregnancies
- Trauma, poor nutrition, no prenatal care, lack of childbirth experience
- Extremes of age, decreased weight (<100lbs) and less height (<5 ft)lack of rest/ ex
- Smoking
- Extreme emotional stress
❖ Fetal factors
- Multiple pregnancy
- Infections
- Polyhydramnios
- Congenital Adrenal Hyperplasia
- Fetal malformations
❖ Placental factors
- Placental separation
- Placental disorders
❖ Unknown factors
Complications
- Prematurity
- Fetal death
- Small-for-gestational age (SGA)/ IUGR
- Increase perinatal morbidity and mortality