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LESSON 1 NATIONAL HEALTH SITUATION OF


MCN
1. Increase maternal death and unintended pregnancies 
related to the following:
1. Declining utilization of facilities for antenatal
check-up and delivery
       a.1 service Disruption
       a.2 difficulty in commuting
        a.3 fear of having COVID
b.  poor access to modern contraception

2. Increase teenage pregnancy


 Teenage pregnancy affects about 6% of
 
Filipino girls.
 An estimated 538 babies are born to Filipino 2022
teenage mothers EVERY SINGLE DAY,
according to the Philippine Statistical Authority  MANILA – Deaths due to complications
from 2017. from childbirth in the Philippines are up 10
 96,370 babies born each year to teenage percent in 2022, according to data from the
mothers in the Philippines!   Philippine Statistics Authority. 
 Nearly 200,000 teenagers get pregnant every  The PSA said 468 maternal deaths have been
year!   recorded in the first 6 months of 2022, up
 there are roughly 40 births each year by girls from the 425 recorded in the same period last
who have not yet reached the age of 13 year.
 Lolito Tacardon, Executive Director of the
3. Increase intimate partner violence
Commission for Population and
4. Disrupted access to life-saving sexual and Development (POPCOM), said they are still
reproductive health services investigating the uptick in maternal deaths
in the country.
 More Filipino mothers are dying at
Statistics childbirth, new data says
-Maternal mortality – increase by 26%  Pregnant women urged to give birth in
-Unintended pregnancies – increase by 42% health facilities after 'sharp increase' in
maternal mortality
-No use of contraception- increase of 67% 
     Reason/s:
 delay in the referral, and of course other
service-related, pertaining in general on the
quality of the services being provided in the
health facility,”
Strategy:
 together with the Department of Health,
we’re in the process of intensifying and
developing multi-sectoral comprehensive
action plan for the more intensified
implementation of reproductive health
(measures) ANC, 21 October 2022
International
 The high number of maternal deaths in some
areas of the world reflects 
      inequities in access to health services, and
highlights the gap between rich and poor.
 Maternal mortality is higher in women living in
rural areas and among poorer communities. 
 Young adolescents face a higher risk of
complications and death as a result of
pregnancy than older women.

LESSON 2 Genetic assessment and counselling


 Genetics- a branch of biology concerned Code: 47XX21/47 XY21
with the study of genes, genetic variations
 
and heredity in living organism
Characteristics

 Genetic counselling- is a process of Late closure of Extra pad of fat at the
communicating between two or more fontanelle base of the head
persons who meet to solve a problem, Slant eyes causes the skin to
resource a curse or take decisions on Epicanthal fold loose
various matters. It is not a of way process (extrafold of Poor muscle tone
where in the counseling tells the client tissue at the ( rag-doll appearance)
what to do nor it is a forum for inner cannula ) Fingers are short and
presentation of the counselor’s value Brushfield spots thick
-Is the process of advising individuals and ( iris with white Little finger is often
families affected by or at risk of genetic specks) curved inward
disorders to help them understand and Large tongue Wide space between
adapt to the medical, psychological and Low set ears the 1st and 2nd finger
familial implications of genetic Small mouth and toes
cavity Palm- with one single
contributions to disease
Back of the head horizontal simian
OTHER TERMS is flat crease
Neck is short Small head
 Phenotype – refers to outward Brain is not well
appearance of the expression of genes developed
 Genotype – refers to actual gene IQ= 50-70
composition Prone for infection
 Genome – complete set of genes present Clinodactyly
Normal genome ; 46XX/46XY Abnormal
 Genetic disorders – disorder passed dermatoglyphics
from one generation to the next
-Occur in same ethnic group Fragile X syndrome
-Occur at the moment an ovum and Code: 46XY23q)
sperm fuse or even earlier in the meiotic  
division phase of the ovum or sperm Characteristics
when the chromosome count is halved
from 46 to 23. Most common Bossing (prominent
cause f cognitive forehead)
challenge in Prominent  lower jaw
METHODS OF ASSESSMENT males Large hands
-An  X linked Marked deficit in speech
A. History Taking disorder in which and
 Include any one related to the family 1 long arm of an mathematics/problem
 Maternal age (> 35 y/o) X chromosome is solving
 Paternal age (>55y/o) defective Large head
 Document parents if - before puberty: Long face
consanguineous/related to each other displays Large protruding ears
 Document ethnic background maladaptive After puberty: enlarged
 Extensive prenatal history behavior such as testicles
B. Physical assessment hyperactivity and
autism
 Pay particular attention to the space
between the eyes, height, contour, shape
of ears, number of fingers and toes,
presence of webbing
 DERMATOGLYPHICS – study of surface
markings of the skin

Trisomy 18 syndrome / Edward’s


COMMON CHROMOSOMAL DISORDERS syndrome
Code: 47XY18/47XX18
Down syndrome/Trisomy 21
   
Characteristics Characteristics

have copies of Microcephaly Has an extra Microcephaly


chromosome 18 Severely cognitively chromosome 13 and Clip lip and palate
- do not survive challenges cognitively Low set ears
beyond early SGA at birth challenged Multiple hair whorls
infancy Marked low set ears Most do  not Wide set nipples 
Small jaw survive beyond Rocker bottom feet
Congenital heart defects early childhood Heart defects
Misshapen fingers and ( ventricular septal
toes (index fingers defect)
deviates or cross over Abnormal genitalia
other finger) Small eyes
Multiple hair whorls (microphthalmus)

Turner syndrome
Code: 45X0 C. DIAGNOSTIC TESTING
  KARYOTYPING-sample of peripheral venous
characteristics blood or a scraping of cells from the
buccal membrane is taken.
Has only 1 functional Low set hair line Cells are allowed to grow until they reach
X chromosome Webbed neck metaphase- most easily observed phase
  Gonadal dyagenesis Cells are stained, placed  under a microscope
Can be identified Short in structure and photographed
with an UTz during Has only streak (small Chromosomes are identified according to size,
pregnancy because and nonfunctional) shape and stain
of the increase neck ovaries
folds Sterile MATERNAL SERUM SCREENING
Exception of pubic -Done at 15th week of pregnancy
hair; secondary sex Alphafetoprotein (AFP)- a glucoprotein
characteristics do not produced by the fetal liver
develop at puberty Peak is between 13th and 32nd week of pregnancy
Newborns= edema on RESULT: if elevated – it means spinal cord
the hands and feet disease/ neural tube defects
With coarctation                 If below – it means chromosomal
(stricture) of aorta disorder/Down syndrome
and kidney disorder MSAFP (Maternal Serum Alphafetoprotein)
Severely cognitively
challenge CVS (Chorionic Villi Sampling
– a diagnostic techniques that involves the
Klinefelter syndrome retival and analysis 
                                                         of chorionic
Code: 47XXY
villi from the growing placenta for chromosome 
                                                          or DNA
 
characteristics analysis
Commonly done at 8-10 weeks r 10-12 weeks of
Males Absence of secondary pregnancy
With an extra X sex characteristics May be done as early as 5 weeks
chromosome Small testes- produces
ineffective sperm
Gynecomastia
( enlarged breast size)
Increased risk of male
breast cancer

Trisomy 13/patau syndrome


Code: 47 XX13/47 XY13 AMNIOCENTESIS
-withdrawal of amniotic fluid through the
abdominal wall for analysis
Done between 14th-16th week of pregnany 3. Assist in whether genetic testing is
A pocket of amniotic fluid is located by appropriate
ultrasound (UTZ) 4. Offer duagnosis and disease prevention
A needle is inserted transabdominally and management
Aspirate 20 ml of amniotic fluid 5. Offer emotional and psychological
Client receieves Rh immune globulin support, ethical guidance to help clients
administration after the procedure (Rhogam) make well informed autonomous health
care decisions and resproductive choices
PUBS ( Percutaneous Umbilical Blood
Sampling)
Other name: Cordocentesis
Removal of blood from the fetal umbilical cord
at about 17 weeks using an amniocentesis
technique

FETAL IMAGING
MRI and UTZ = used to assess a fetus for
general size and structure disorder of the
internal organs, spine and limbs

GENETIC COUNSELING
 Provide concrete, accurate information
about the process of inheritance and
inherited disorder
 Reassure people who are concerned that
their child may inherit a particular
disorder that the disorder will not occur
 Allow people who are affected by
inherited disorder to make informed
choices about future reproduction
 Offer  support  on people who are affected
by genetic disorder
 Observe data privacy ideal time for
counseling is before 1st pregnancy

ROLE OF A NURSE IN GENETIC


COUNSELING
 Guiding women or couple through
prenatal diagnosis
 Helping parents to make decisions in
regards to abnormal prenatal diagnosis
results
 Assisting parents whi have hada child
with a birth defect to locate needed
service and support
 Providing support to help the family deal
with the emotional impact of a birth
defect
 Coordinate services of other professionals
such as social workers, physical and
occupational therapists, psychologist,
dietatcian

IMPORTANCE OF GENETIC
COUNSELLING
1. Aid in determining the risk of disease
2. Help in identifying a hereditary condition

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