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PRECONCEPTION &

PRENATAL SCREENING

PREPARED BY:
SUGAHSHINI A/P SIVASAMY
NURUL SYAZANA BT ZULMAJDE CHE
NUR AINA ATIRAH BT AZIZAN
PRECONCEPTION SCREENING
Definition

• a set of interventions that aim to identify


and modify biomedical, behavioral, and
social risks to a woman’s health or
pregnancy outcome through prevention
and management
What is preconception care

• Entire range of measures that can be


adopted before conception to promote the
health of expectant mother and her child.
• To prevent congenital disorders
• Cost effective (compared to treatment)
Preconception goals

• Improve knowledge, attitudes, and behaviors of


men and women related to preconceptional health.
• Assure that all women of child bearing age receive
preconceptional care services including evidence-
based risk screening, health promotion, and
interventions that will enable them to enter
pregnancy in optimal health.
• Reduce risks indicated by a previous adverse
pregnancy outcome through interconceptional
interventions to prevent or minimize recurrent
adverse outcomes.
• Reduce the disparities in adverse pregnancy
outcomes.
Medical history
• Diabetis mellitus
– Women with pregestational DM that undergo
preconception counseling can avoid
complication if glucose level is optimized
before conception
• Epilepsy
– Increase risk of having infant with structural
anomalies
• Immunization
– Live virus vaccine is not recommended
Genetic diseases
• Family history
• Neural tube defects
– folic acid reduce risk
• Phenylketonuria
– Phenylalanine restricted diet reduce risk of
congenital malformation
• Thalassemia
• Jewish descents
– Tay Sachs, Gaucher, cystic fibrosis, Ganavan,
Niemann Pick disease, Fanconi anemia,
dysautonomia, Bloom syndrome
Reproductive history
• Infertility
• Abnormal pregnancy outcome
– Miscarriage
– Ectopic pregnancy
– Recurrent pregnancy loss
• Obstetric complication
– Preeclampsia
– Placenta absruption
– Preterm delivery
Parental age

• Maternal age
– Below 20 y/o : STI, preterm delivery, anemia,
preeclampsia
– Above 35 y/o : obstetric complication,
perinatal morbidity and mortality, maternal
mortality,
• Paternal age
– Associated with increase risk of genetic
disease in older man but the incidence is still
low
Social

• Recreational drug and smoking


• Diet
• Environmental exposure
• Exercise
• Intimate partner violence
Type of programme

• Entire community
– eg : rubella vacination, folic acid fortification
• All individuals in particular population
– Program delivered by primary health care
professional to all couples who want to have
children
• High risk individual
– Those who want to conceive child but have risk
factor such as known genetic problem, diabetis,
smoker, heavy alcohol drinker
• Preconception to prevent genetic causes:
– Congenital heart anomalies
– Neural tube defect
– Hemoglobin disorder
– Down syndrome
– G6PD deficiency

• Preconception to prevent non genetic causes :


– Alcohol
– Iodine deficiency
– Rubella
– Syphilis infection
Preconception integrated program

• Family planning
• Folic acid supplementation and
fortification
• Iodine and iron deficiency
management
• Minimisation of exposure to teratogens
including alcohol, drugs, tobacco and
illegal drugs
• Minimisation of exposure to
workplace/environmental teratogens
including pesticides and herbicides
Preconception integrated program cont.

• Minimisation of infectious disease exposure,


including syphilis, rubella, and cytomegalovirus
(CMV)
• Chronic disease control, particularly diabetes,
epilepsy and obesity
• Review of medication, both prescribed and over
the counter, and advice to avoid non-essential
medications
• Review of obstetric and gynaecological history
• Genetic disease management, particularly
haemoglobin disorders, cystic fibrosis and other
recessive single gene disorders
Preconception carrier screening

• Genetic condition
• G6PD conditon
• Hemoglobin disorder
• Cystic fibrosis
• Tay Sach disease
• Etc
Ethical, legal , social issue

• Autonomy and informed consent


• Attitude to termination of pregnancy
• Access to service
• Anxiety caused by screening
• Stigma and discrimination
References

• http://www.toolkit.bornhealthy.org/my-
pccs.htm
• http://www.toolkit.bornhealthy.org/pccs-
background.pdf
• Williams obstetric 24th edition
ANTENATAL CARE
Antenatal care is defined as care of the pregnant
woman before delivery of the infant.

The guidance and supervision help the woman pass


through pregnancy with a minimum of mental and
physical discomfort and a maximum of mental and
physical fitness.

A woman should begin her antenatal care as early as


possible after confirmation of pregnancy.
Aims of antenatal care
• Complete medical examination.
This may provide opportunity for thorough general medical assessment of
the patient. The course of a medical disease may be worsened by
pregnancy or the disease itself may threaten the developing fetus.
• Obstetric examination:
- To confirm the diagnosis pf pregnancy
- To assess the uterine size and confirm gestational age
• Early detection of pregnancy complications such as:
- Pregnancy induced by hypertension or pre-eclampsia
- Multiple pregnancy
- Malpresentations
- Anaemia
- Intrauterine growth retardation (IUGR)
• Patient education:
Advice the patient regarding nutrition, breast feeding, smoking, alcohol,
drugs, exercise and intercourse can be incorporated into antenatal
classes.
• Risk assessment and appropriate plan for antenatal care and delivery:
Once the health status of the mother and fetus have been defined, the
initial plan for subsequent care may range from relatively infrequent
routine visits to that of prompt hospitalization because of serious maternal
or fetal disease.
First visit (booking visit)
The booking is normally done at about 12-16
weeks. At the first visit or booking visit the
following are followed:
• Taking a complete history
• Examination in obstetric
• Screening tests at first visit
• Ultrasound examination
Screening tests at first booking
1. Weight and height – used to calculate your body mass index (BMI)
2. Urine test – for protein or albumin to rule out the sign of pre-
eclampsia
3. Mid stream urine for culture – it is worth seeking asymptomatic
bacteriuria, as its eradication will greatly reduce the incidence of
pyelonephritis in later pregnancy
4. Blood pressure – a rise in blood pressure could be a sign of
pregnancy induced hypertension
5. Blood group, rhesus factor and antibody screening
• A rhesus negative woman can carry a baby who is rhesus positive
if the baby's father is rhesus positive. If a small amount of the
baby's blood enters the mother's bloodstream during pregnancy or
birth, the mother can produce antibodies against the rhesus
positive cells (known as anti-D antibodies).
• This usually doesn't affect the current pregnancy, but if the woman
has another pregnancy with a rhesus positive baby, her immune
reponse will be greater and she may produce a lot more
antibodies.
• These antibodies can cross the placenta and destroy the baby's
blood cells, leading to a condition called rhesus disease,
or haemolytic disease of the newborn. This can lead to anaemia
and jaundice in the baby.
6. Complete blood count – to estimate the haemoglobin, to detect
common iron deficiency anaemia
7. Blood sugar test – in overweight patient there is a risk to have
gestational diabetes mellitus
8. TORCH screen
• The TORCH screen is given to a pregnant mother. A mother can
pass infections to a fetus during pregnancy or delivery.
• It is a group of blood tests that check for several
different infections. TORCH stands for toxoplasmosis, rubella,
cytomegalovirus, herpes simplex, and HIV, but it can also include
other newborn infections such as syphilis, varicella-zoster and
parvovirus B19.
9. Test for Hepatitis B antigen
Subsequent antenatal screening
• At each visits from first trimester to third
trimester (as scheduled), subsequent
antenatal surveillance is done.
• Maternal:
– Weight
– Blood pressure
– Any symptoms associated with pregnancies
– Presence/Absence of edema
– Symphysis-fundal height
• Fetal:
– Fetal activity
– Fetal heart auscultation
– Fetal lie,presentation, engagement
– Fetal growth
• Laborotory tests (if initial results were
abnormal)
– Hemoglobin
– Urine
– Rhesus antibodies
– Fetal abnormalities
– Women at risk of gestational diabetes mellitus
First trimester
• Urine tested for glucose and protein in
every visits
• Blood pressure
• HbA1c to check for diabetic control (if
indicated)
• Thyroid function tests (if indicated)
• Thrombophilia (if indicated)
Second trimester

• Blood pressure
• Urine tested for protein and glucose
• Amniocentesis (if required)

• Screening for NTD


• Triple test
• Screening for GDM
Screening test for congenital anomalies

History taking
• Past history of fetal anomalies
• Family history of fetal anomaly
• Advanced maternal age (>35years)
• Diabetes mellitus
• Drugs and high alcohol intake
Cont..
Clinical examination
• Abnormal amniotic fluid volume
– Polyhydamnios ( eg, CNS and GIT anomalies)
– Oligohydramnios (eg,obstructive uropathy)
• Malprentation
• Abnormal fetal growth
• Twins
• Complications of pregnancy
Screening for NTD
• Maternal serum alpha fetoprotein (AFP)is
used as a screening test for open neural
tube defect.
• AFP is produced by yolk sac first and then
by fetal liver, in pregnancy they are
present in small amoun in maternal serum
and amniotic fluid.
• Levels of AFP are high in early pregnancy
and declines when it progresses.
Cont...
• In open NTD, AFP leaks into amniotic fluid and
then into maternal serum causing a rise in
MSAFP (higher than normal value)
• Further investigation is needed (amniocentesis,
ultrasound)

Other causes of raised MSAFP are:


• Abdominal wall defects, congenital
nephrosis,esophageal obstruction, tumors of
placenta or umbilical cord, multiple pregnancy,
gestation advanced than calculated,etc
Triple test

• Estimation of MSAFP, unconjugated


estriol,beta-hCG.
• It is a screening test for trisomy 21.
• In down syndrome:
– Low MSAFP
– Low unconjugated estriol
– High hCG
Third trimester

• Second screening for anemia and atypical


red cell alloantibodies
• RBC less than 10.5g/dll need to give iron
supplementation
• BP,Urine for glucose and protein
AMNIOCENTESIS

• Known as amniotic fluid test-


transabdominal invasive procedure
• Technique of obtaining cells from a
fetus by withdrawing sample of
amniotic fluid
• Advisable if the mother is known to
carry a chromosomal aberration
• Mothers>35 yrs old- higher
number of babies with
chromosomal defects
• Amniocentesis performed @ 16-18
weeks of gestation
INDICATIONS FOR AMNIOCENTESIS IN
EARLY PREGNANCY
• Chromosomal analysis
• Neural tube defects
• Inborn errors of metabolism
Inborn error of metabolism
Categories of inborn errors of metabolism, or IEMs, are as
follows:

• Disorders that result in toxic accumulation


• Disorders of protein metabolism (eg, amino acidopathies,
organic acidopathies, urea cycle defects)
• Disorders of carbohydrate intolerance
• Lysosomal storage disorders
• Disorders of energy production
• Utilization Fatty acid oxidation defects
• Disorders of carbohydrate utilization, production (ie, glycogen
storage disorders, disorders of gluconeogenesis and
glycogenolysis)
• Mitochondrial disorders
• Peroxisomal disorders
INDICATIONS FOR AMNIOCENTESIS IN
LATER PREGNANCY

• Rhesus iso-immunisation
-Spectrophotometric scanning to assess
for fetal haemolytic disease to estimate
the amt. of bilirubin excreted by the fetus
-Done at frequent intervals to monitor the
effect on fetus of the rising antibody titre
in the mother
RISK OF AMNIOCENTESIS
• Haemorrhage result from perforation of the
placenta or vessels in the umbilical cord (can
be prevented by using US guided
visualisation during the needle aspiration)
• Infection
• Rhesus isoimmunisation (accidental transfer
of fetal blood to maternal circulation)
• Effect on fetal; trauma, orthopaedic postural
deformities, preterm labour and amniotic fluid
leakage
CHORION VILLUS SAMPLING

• Used primarily to
diagnose genetic or
chromosome
abnormalities in the
fetus
• This procedure
performed at 8-12
weeks (1st trimester)
• Transabdominal or
transcervical (most
widely used)- sample
of chorionic villi
aspirated via syringe
(US guided)
Indications for CVS

• Chromosomal analysis
• Inborn errors of metabolism
• DNA analysis
CVS
Advantages Complications

• Examines fetal tissues • Spontaneous


and quick diagnosis of abortion (rate=4%)
many disorders
• Infection
• Membranes are not
punctured • Intrauterine death
• Results can be obtained • Placenta abruption
within a week much
• Perforation of uterus
earlier than
amniocentesis- allows
early termination in case
necessary
CORDOCENTESIS

• Technique for sampling of fetal blood


from umbilical vein using fine needle
under US guidance
• Screen for; chromosomal abnormalities,
inborn errors of metabolism,
haemoglobinopathies and other
disorders affecting blood or cells
• Diagnostic tool for placental infection ie.
Toxoplasmosis, rubella, CMV
• Allows rapid chromosomal abnormalities
within 2-3 days
• Simpler, less hazardous than fetoscopy
FETOSCOPY

• View fetus directly via endoscope inserted


into uterus through small abdominal
incision
• Done under sedation to reduce fetal and
maternal movement
• Fetal skin and liver biopsy can be obtained
• *rarely performed, other procedures are
less hazardous and equally effective
References

• http://www.toolkit.bornhealthy.org/my-
pccs.htm
• http://www.toolkit.bornhealthy.org/pccs-
background.pdf

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