Premarital Screening
Looking for Mr or Ms Right Gene?
Marriage is considered a remarkable event in a couples’ life, as they plan to start a family, and through which they usher in a new stage in terms of building emotional, social, familial and healthy relationships.
The injury of any of the family members with hereditary and infectious diseases leads to foul the pleasure of life and several psychological, social, and economic problems. Not to mention the medical disorders and their repercussions on the patient, family, and community.
A premarital test is a test that offers a crucial health assessment of soon-to-be married couples in which they are tested for genetic, infectious and transmissible diseases to prevent any risk of transmitting any disease to each other and their children.
The question is, should your choice of spouse be left solely to your heart, or should the choice incorporate some genetic fitness phase?
Why is it important?
Hereditary blood diseases, especially Sickle cell disease and Thalassemia, are prevalent in Egypt, Mediterranean and Middle East countries. The spread of these diseases contributes to the marriage of relatives.
Thalassaemia carriers are healthy and do not know that they are carriers unless they have a special blood test carried out. The problem emerges when 2 unaware Thalassemia carriers marry each other; the possibility of giving birth of children with full Thalassemia picture is very high. Marriage between Thalassemia carriers is strongly discouraged.
Many Western and some Arab countries, like Saudi Arabia and UAE, have made progress in some health related aspects where their Ministry of Health introduced the Premarital Testing Program obligatory for all couples before marriage.
What tests are done in Premarital Screening
Pre marital screening varies from one region to another depending on the prevalence of the diseases in that region. However, premarital screening can be divided into 4 major categories:
- Basic tests:
This includes the most important tests that every couple should consider before marriage.
- Complete blood count (CBC).
- Blood group (ABO & Rh typing).
- Abnormal Haemoglobin studies (Hb electrophoresis).
- Sexually transmitted diseases for HIV, Syphilis, Gonorrhea, Chlamydia and Hepatitis B & C viruses.
- Fertility tests:
It is always important to know about the fertility status of the couple as most of the time, especially in the Arab population, women are condemned for not having children after years of marriage. Though it’s interesting to know in many cases, the male infertility was the reason behind this.
So it’s crucial that men get tested for fertility as well as women. Yes, it can be embarrassing, but discovering male fertility problems early can mean earlier treatment and a successful pregnancy. Male infertility testing can also spare women unnecessary discomfort and expense.
Semen analysis is the most common testing procedure for determining if there is a male infertility factor. Other blood hormones like testosterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH) may follow.
Female infertility tests involve measuring the level of the hormones, like, FSH, LH and prolactin. This is performed on the third day of cycle. Other hormones and routine analyses are also done to complement the diagnosis.
- Basic genetic tests: Blood Karyotype
We always recommend blood karyotyping as to analyze chromosomes of all couples before marriage especially when they are relatives or if one of them has family history for any health problem which is genetically inherited.
It is a relatively inexpensive screening genetic test that we advice to the couples even those who do not have any particular genetic conditions.
- Advanced genetic tests: Genetic Counselling
Genetic counseling is or should be a part of the premarital screening. Genetic Counsellor can help to decide the type of test the couple should consider. Details of the family history, medical records and conditions of family members from both the sides need to be provided to the Counsellors to have a proper advice from him.
What are the options?
In some populations, the likelihood of mating with a person with one’s same faulty recessive gene is quite high. Since being a carrier doesn’t carry any morbidity and is not manifested, the only material risk to carriers is that they might conceive a child with a partner who shares the same carrier status. If the genetic condition is a lethal one (e.g., Cystic Fibrosis), or seriously debilitating (e.g., Fanconi’s anemia), one might wish to engage in preventive measures. What are the options?
- One could remain in genetic ignorance with respect to his/her own carrier state, as well as the partner’s, and hope that the risk does not materialize.
- One could resort to prenatal testing (testing the baby during pregnancy), with the only true option in case of an affected embryo being an abortion. It should be noted that abortions carry certain risks to the mother (physical as well as psychological), are fraught with moral issues, and in some societies or subpopulations are strictly prohibited.
One option is to screen the embryo.
It is now possible to examine embryos prior to gestation in a procedure, called pregestational diagnosis (PGD), in which DNA from a cell of the developing pre-embryo is screened, and the pre-embryo is only returned to the mother-to-be’s womb if it doesn’t bear the suspected gene for which it is tested.
Another is to take premarital genetic tests.
But what if it would be possible to avoid the problem altogether? One way to do this is by performing premarital genetic testing (PGT) and informing prospective spouses about their carrier status, allowing potential partners who are both carriers of a particular recessive trait the option not to marry or not to procreate if they so wish.
The question is, should your choice of spouse be left solely to your heart, or should the choice incorporate some genetic fitness phase? Obviously, if one is to regard marriage as a joint decision to share your life with someone you love, incorporating genetic criteria might seem rather troubling, if not inappropriate. But, on the other hand, if you hold the view that the main reason for your union is procreation, then worrying about genetic compatibility and avoiding inheritance of grave genetic diseases becomes a serious consideration.
Nicole Burke
Ut wisi enim ad minim veniam, quis laore nostrud exerci tation ulm hedi corper turet suscipit lobortis nisl ut aliquip erat volutpat ignissim qui blandit praesent luptatum zzril delenit augue duis
Dylan Johnston
Ut wisi enim ad minim veniam, quis laore nostrud exerci tation ulm hedi corper turet ipsum dolor sit amet, consectetuer adipiscing elit, sed diam nonummy nibh euismod tincidunt ut laoreet dolore magna aliquam erat volutpat. Ut wisi enim ad minim veniam, quis nostrud exerci tation ullamcorper suscipit lobortis nisl ut aliquip.