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Premarital Screening

&Counseling
Prepared by
Dr Noora Alkaabi
specialist Community Medicine

Outline
Definition of Terms
Introduction
The Burden of Genetic Blood Diseases
The situation in Qatar
Target Population
Procedures of Premarital Screening Clinic
Infectious Disease Screening
Counseling
Summary



Definition of Terms

A premarital test: is defined as a test in which couples that
are going to get married are tested for genetic, blood and
infectious diseases to prevent any risk of transmitting any
disease to the other partner or to the future offspring.

Premarital counseling: is a session/s that is delivered by
trained health care professionals in order to inform the
couple of the test results and outcomes on their offspring,
to ensure a healthier start of life for their future families.
The sessions offer them counseling, support and referrals
to higher levels of care if needed.

The premarital screening program: is essential to protect
the community and the unborn children from the
financial, physical and psychological burden associated
with several communicable and hereditary conditions.

Introduction
Initiated as early 2000 by the formulation of the
committee by the medical director and under the
leadership of MCH to put the provision for the
future plan.

The screening done to detect the important disease
which is provided by 5 health centers (Airport,
Alrayyan, West bay, Alkhour, and Al Gharafa)

It is mandatory check-up, and will test couples for
infectious diseases like HIV, hepatitis and genetic
and hereditary disorders to prevent them from
giving birth to children with complicated diseases,
deformities or abnormalities.



The aim of premarital screening is to:

detect couples at risk and provide them with
information that helps them take the right decision
for the future of their offspring.

It helps prevent diseases, mainly hereditary
diseases and some sexually transmitted infections
that protect our future generation from the
debilitating effects of such ailments.

Introduction
The WHO has recommended several measures for
the prevention of genetic diseases, one of which is
premarital screening.

This service has been provided by many countries
such as China, Iran, Saudi Arabia, United Arab
Emirates, Kuwait, Cyprus, Gaza strip-Palestine,
Jordan, and Bahrain where the law is mandatory,
while other countries such as Italy, United
Kingdom, United States, Egypt, Lebanon the
service is optional.

In an attempt to reduce the incidence of hereditary
disorders the premarital screening service was
introduced through primary health centres in December
2009 and all nationals were encouraged to undergo such
screening.

The Burden of Genetic Blood
Diseases

Genetic blood diseases are common, for instance Sickle
Cell Disease (SCD), is considered the most common
single gene disorder worldwide with different clinical
and haematological manifestations in different
populations.

Currently, there is no definitive cure for these diseases,
which consequently has a negative impact on the life
style of the individual, family and the community,
leading to remarkable economical and psychosocial
burdens.




The Burden of Genetic Blood
Diseases
Cyprus In 1980, premarital screening, prenatal diagnosis and
health education for -Thalassemia was made compulsory by
law. It resulted in reduction of new cases from 18-20 cases
per year to one in every 2-3 years from 1991 to 2001.

In Saudi Arabia, it was estimated that management of blood
genetic diseases such as SCD, cost the government up to 50,
000 SR annually per patient, and the bone marrow transplant
up to 500,000 SR per year.



The situation in Qatar
The burden of genetic blood disorders has long been
recognized as a major public health problem in Qatar
mainly due to the high prevalence of consanguineous
marriages.

The current rate of consanguinity is 54 %, the most
common type being among first cousins (34.8 %). The
consanguinity rate has increased from 41.8 % to 54.5 %
in one generation.

The population risk of having a child with a severe or
lethal medical condition is around 2% , but for a first-
cousin couple the risk rises to around 5%.
Target Population

Every couple who wish to get married should be
subjected to premarital screening.

Premarital Screening service is provided by five
health centers for:
Qatari Couples.
GCC Citizens.
Qatari Non-Qatari Couples.
GCC Non-GCC Couples.
Non-Qatari born to Qatari mothers.

Procedures of Premarital Screening
Clinic


Appointment System

Couples must take an appointment for the first visit
either directly from the clerk, by a telephone call or
online through the website.

Premarital Screening is usually completed in 2 visits
unless there is need to refer for further investigation,
management or referral.

Premarital Screening is provided by physicians with the
help of trained Nurses, laboratory technicians,
pharmacists and clerks.


Electronic SMS reminder sent for confirmation of
appointment and include time of appointment & the required
documents.

Couples can choose any Health Centre to utilize the service
and both partners have appointment on same health centre
according their willing on the same day






Registration

The registration clerk should verify the following information:

Full name and HC number and confirm the information with the
health card.
Verifies the client with the photo in the card.
Address and contact phone number.
If there is no health card, the QID number is requested and is verified
in the PHCC system. If QID is not listed in the PHCC system, then
the client should be directed to the registration section to generate the
health card.

When generating a new file, the patients full name, health card
number, is required to encode the patients information in the
PHCC system.

1st Clinic Visit
Reception:
Medical record folder prepared by the clerks
containing the following forms:

Premarital Medical Assessment certificate
Application for premarital medical assessment
Premarital physical examination
Premarital Medical Assessment Consent
Psychiatric Illness Declaration form (free from
psychological, Mental, epileptic diseases)
Laboratory screening forms.



Assessment Room

Assigned nurse take and document socio- demographic
data, medical / surgical/ psychological history, family
history, family pedigree, risk behaviour and history of
previous marriage (if any) in the clients file and the
electronic system.

Assigned nurse perform the following physical
measurements:

Weight, Height & BMI.
Blood Pressure.
Pulse.
FBS/ RBS.

Doctor Room:

Review history taken by the nurse.
Perform physical examination including:
General appearance.
Head & neck.
Cardiovascular system.
Respiratory system.
Abdomen.
Others depend on patients history and doctors
evaluation of the client.

Request laboratory investigations.
Inform the client about next week appointment for 2nd visit
(from 11:00 am in the morning shift & 7:00 pm in the
evening shift).

Preparation for the Next Visit

Before the 2nd visit, the physician review the lab reports
and prepare the certificates for those with normal results.

In case of delay in the results, the physician or the nurse
call the client to inform him/ her about the delay.

In case of normal results, the nurse handle the completed
certificate to the client.

If any abnormal result, the client see the physician for
counselling, referral or treatment if needed.


Premarital Examination Certificate


A formal premarital examination certificate will be
issued after ensuring the completion of the
premarital counseling form this certificate consist of
5 copies.
White copy: for Ministry of Justice
Blue copy: male copy
Pink copy: female copy
Yellow copy (2): one copy in each file

The certificate is expired after 6 months, after which
the client only repeat the infectious disease
investigation in the new certificate.

Molecular Genetic Tests for the
following diseases:

Cystic Fibrosis (CF).
Homocystinurea.
Spinal Muscular Atrophy (SMA)(optional) .

Management Plan
Counseling.
Premarital educational materials given to each partner which includes
the following information:
The concept and aim of Premarital Screening.
Common haemoglobinopathies in Qatar.
Sexually transmitted Infections (STIs).
Healthy Lifestyle.
The various methods of contraception.
Providing vaccination and treatment as required.
Scheduling revisit or referral.

Infectious Disease Screening

Role of Primary Care Physician

Hepatitis B, C or HIV

Advises the client to disclose of the blood test results to
the fianc.

Reports cases to the Communicable Disease Control and
Health Protection Department in the Supreme Council of
Health.

Refers both the client and the fianc to the ID clinic and
should be in one paper with the sticker of the client &
fianc.
Syphilis


Initiate Treatment at PHCC according to the 2010 CDC
guidelines for the STIs.

The case referred to the ID clinic at HMC

Reports cases to the Communicable Disease Control and
Health Protection Department in the Supreme Council of
Health.

The certificate will be issued after completion of the
treatment

No need to inform the fianc if the patient was treated



Rubella


Check the females rubella immunity status.

Females where the rubella IgG level is interpreted as
no protective immunity are counselled and offered
to receive one dose rubella or MMR vaccine, and
given advice to avoid pregnancy for one month
following vaccination. If the client refuses to take the
vaccine, she has to sign a refusal paper.


Role of the Infectious Disease
Clinic at HMC

Hepatitis B & C
Confirms the diagnosis.
Reports cases to the Communicable Disease
Control and Health Protection Department in the
Supreme Council of Health (SCH).
Counsels the couple regarding the disease,
transmission and prevention.
Ensures the needed vaccination was prescribed.
Manages the patient with proper follow up.
Sends the client back to the PMS clinic with
proper feedback on the referral paper which
should be stamped by the physician in the ID
clinic.

Counseling

Hepatitis B

Vaccination of the fianc with HB vaccine provides >95% protection.

Advises couples to avoid unprotected intercourse by using condoms till
partner is immune, which is achieved when the anti HB antibodies
reach a titer of > 10mIU/ml. If partner is not immune, advice couples to
use protected intercourse for life.

The patient should avoid alcohol consumption and receive hepatitis A
immunization.

Advises patients to cover all cuts and open sores with a bandage.

Patients should not donate blood, plasma, body organs, tissue, or
sperm.

Hepatitis C

Discuss with the client protecting the liver from
further harm by:
Avoiding alcohol consumption.
Not starting new medications, including herbal or over-
the-counter medications, without consulting a physician.

Minimizing the risk of transmission to others by:
Not donating blood, body organs, tissue, or semen.
Not sharing appliances that may have blood on them,
such as toothbrushes, dental appliances, razors and nail
clippers.
Covering sores or open wounds on the skin to prevent
spreading of infectious blood or secretions.


HIV

Investigates the case.
Reports cases to the Communicable Disease
Control and Health Protection Department in the
Supreme Council of Health .
Traces the contacts.
Counsels the couple regarding the disease,
transmission and prevention.
Manages the patient with proper follow up.
Sends the client back to the PMS clinic with
proper feedback on the referral paper which
should be stamped by the physician in the ID
clinic.


Usually these cases will be handled confidentially by the
infectious disease consultant.

Post-test counselling include the following:
Review meaning of test results and implications.
If test result is positive.
Assess clients reaction and ability to cope.
Anticipate need for immediate support and close follow-up
plan for medical evaluation.
Evaluate HIV positive cases regularly.

If the fianc decided to continue marriage, counseling
sessions with continuous follow up with the client every
appointment. Counseling should include:
Meaning of results.
Mode of transmission.
Ways of protection.
Risk.
Risk Reduction Counseling:
If the couple agrees to marry we advise
them to
Use latex condoms and spermicidal for all sexual
activity.
Always use sterile needles; however, if you do share
equipment, make sure it is cleaned with bleach as
recommended.
Do not share personal items such as razors and
toothbrushes.
Not to donate blood or blood products, semen, ova,
tissues, organs or breast milk.
Have a skin test for tuberculosis.


Syphilis


Confirms the diagnosis.
Reports cases to the Communicable Disease Control
and Health Protection Department in the Supreme
Council of Health (SCH).
Counsels the couple regarding the disease,
transmission and prevention.
Manages the patient with proper follow up.
Sends the client back to the PMS clinic with proper
feedback on the referral paper which should be
stamped by the physician in the ID clinic.



Counseling

Instruct patients to attend for treatment at the intervals
recommended (once /week for 3 weeks).

Instruct patients about the required follow-up
laboratory and clinical evaluations necessary to
document adequate treatment (serology repeated after
6, 12 and 24 months).

Provide education about sexual risk reduction by
emphasizing the importance of wearing latex condoms
till the disease is no longer infectious. (A titre decline
>4 folds).


Haematology Screening Tests

When to refer to Hematology Clinic:

If both couples were alpha (If the result shows
MCV level, MCH level (<23), Hgb level,
normal Ferittin ). They are sent to haematology
clinic for confirmation then referred to the
genetic counselor.

When to refer for Genetic Counseling:

One partner has sickle cell trait while the other has abnormal
Hb, HbE, HbC, HbO Arab disease.

Both partners are carriers of - thalassemia (- thal trait).

Both partners are carriers of sickle cell trait or carriers of alpha
.

One partner has sickle cell trait and the other has - thal. Trait.

One partner is carrier for - Thalassemia and other partner is
carrier for HbE, HbC or HbO Arab Trait.


No need to refer the following cases:

If both couples were alpha
+
they are
absolutely normal and no need to refer to
hematology clinic

If one is alpha trait and the other is either
beta or sickle trait.

Normal CBC indices.

Molecular Genetic Screening Test
Option of Testing for SMA

pre-marital screening for SMA is optional
for couples.
Couples with a family history of spinal
muscular atrophy, SIDS, infant deaths
and/or undiagnosed floppy infant
should consider testing for SMA.

When to Refer to Genetics
Department for Genetic Counseling


If both partners are carriers of Homocystinuria,
Cystic Fibrosis and/or Spinal Muscular Atrophy.

If both partners are carriers of a
hemoglobinopathy .

If one partner is a carrier of an above mentioned
condition and the other partner is a non-Qatari
and/or from a different ethnic background.
When a family history of any genetic disorder is
reported by either partner (not mandatory).

Why Should Couples be referred for
Genetic Counseling


To reduce the risk of societal misconceptions of inheritance of
disease through the female.

To explain risks to future offspring of couple.

To communicate with patients their options to prevent the
occurrence of disease in a child, this includes pre-implantation
genetic diagnosis and prenatal diagnosis
(amniocentesis/chorionic villus sampling).

To increase knowledge of genetic diseases and their inheritance
in a population where consanguineous marriages are frequent
and to encourage carrier testing for at-risk family members once
carriers are identified through pre-marital screening.


No Need to Refer the Following Cases

One partner is a carrier and the other partner is not a
carrier of the same genetic condition.

Normal molecular results.


Results and Certificate


Any abnormal result should be referred to HMC for
consultation.

Documentation in the letter done for any viral or genetic disease
is present as well as counselling for both couples.

The agreement letter is expired after one year.

In case of Qatari planning to marry someone outside the country,
the certificate is sent directly to the person in charge in the
marriage committee in the presence of HIV infection while it is
handled to the client after he/she completes the whole referral
process in case of any other infectious illness.


Summary

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