Before the wedding, and ideally before getting engaged, young couples have more than honeymoon destination, wedding halls, and furniture for their love nest to think about.
A major concern, especially among Arab couples, is the health of their future children. Pre-marital screening for certain genetic diseases should be done way ahead of picking out the white wedding dress, and it is mandatory in Saudi Arabia prior to obtaining a marriage certificate, and for valid reasons.
Marriage between cousins has been part of the culture in Saudi Arabia and other Arab societies for centuries, and it is still common place.
The result has been an increase in the number of what scientists call ‘autosomal recessive’ diseases. What this means is a genetic disease that only appears when a child receives the faulty gene from both parents; it is a recessive gene and it manifests as an illness only if the child inherits the abnormal gene from both parents.
Both parents are healthy, but they both carry the abnormal gene and could pass it on to their offspring. Genetic screening is the only way of knowing if the parents are carriers or not.
If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and the child will develop the disease.
There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, but he/she will be disease-free, like the parents.
There is a 25% chance of the child inheriting both normal genes and the child will be healthy and also a non-carrier of the abnormal gene.
In a report in the Middle East Journal of Family Medicine, Dr. Aida Al-Aqeel, pediatric geneticist and endocrinologist at Riyadh Military Hospital, wrote, “ In Saudi Arabia like other Middle Eastern countries, first cousin marriages account for 60 - 70% of all marriages, leading to uniquely common disorders which are either rare by Western standards or are unknown.
A review of the files of the Armed Forces Hospital and the King Faisal Specialist Hospital and Research Centre, over 10 years period, documented more than 150 varieties of neurodegenerative disease among 2,000 children. Some autosomal recessive disorders are common, such as sickle cell anemia and thalassaemia. Others are unique.”
Al-Aqeel further states that prevention of many genetic disorders is possible through pre-marital genetic screening. Equally important is early diagnosis of certain metabolic genetic disorders in infancy, because often early intervention and following a treatment plan can give this child a chance to a normal, healthy life.
If left unrecognized and untreated, even for the first few months of the baby’s life, the disease may cause lasting physical, neurolgoical, and behavioral development.
For example, Maple Syrup Urine Disease is a rare, inherited disorder in which the body lacks the enzymes that process two of the essential amino acids.
If untreated within the first week or two of the infant’s life, the condition may lead to seizures, mental retardation, coma, and death.
If, however, it was spotted early enough by the family or physician, with a strictly modified diet, the child can lead a normal, healthy, and active life.
Another genetic disorder, which is common in Saudi Arabia, is PKU (phenylketonuria). The affected individual is unable to metabolize phenylalanine, an amino acid, a building block of proteins.
For someone with PKU, phenylalanine builds up in the blood to high, toxic levels and it can cause intellectual disability and other serious health problems.
The signs that a baby is born with PKU are subtle; it requires that physicians be trained to look for such signs, and neonatal screening for any baby born to a couple whose pre-marital screening showed a high risk of genetic disorders.
Without early treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common.
Al-Aqeel said, “The practicing physician must be aware of these disorders. The awareness of these disorders is important to facilitate early diagnosis and initiation of treatment, to prevent neurologic crippling. Prevention of these disorders by premarital genetics screening is possible.”
Another leader in genetic research, Dr. Jumana Al-Aama, has founded the Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders.
The center is dedicated to conducting research in hereditary disorders, focusing on patients’ needs, etiology, and prevention of diseases.
The center aims to utilize this research in order to improve the services provided to patients with hereditary disorders and their families.
The center also offers genetic screening and counseling services for healthy individuals interested in prevention.
“The philosophy of PACER-HD can be summarized in the fact that the patient is at the heart of our attention and at the center of all our activities.
This philosophy is in line with the global view of medical research. This view stems from knowing the needs of a specific society first, then trying to find proper solutions,” said the director of the center, Dr. Jumana Al-Aama.
Now, several centers in Saudi Arabia offer pre-marital genetic screening. In addition to the blood tests, the bride and groom to-be also receive genetic counseling during which the results are explained and different options are explored.
If results show that there is a high possibility for the couple to have a genetically abnormal child, the genetic counselor can help give advice in a number of areas:
• The couple, based on medical advice, may decide not to get married.
• If the couple decides to get married, they may not wish to have children.
• If the couple wished to marry and have children, genetic counseling can help determine risks for specific diseases, and the baby will be closely monitored and tested immediately after birth to identify and treat any existing disease.
• The couple can also do prenatal screening of the fetus at an early stage of pregnancy.
• Couples must understand the option of termination of the pregnancy, if approved by an Islamic scholar for their particular condition.
• Couples must understand the social, emotional, and economic perspectives of having children with genetic disorders.
The introduction of mandatory pre-marital screening in Saudi Arabia has shown positive outcomes in curbing high-risk marriages, and consequently decreasing the incidence of some genetic disorders.
Researchers at King Faisal Specialist Hospital in Riyadh evaluated the outcome of the six-year national pre-marital screening and genetic counseling program for sickle cell anemia and thalassemia in Saudi Arabia.
During the implementation of this program, blood samples of young men and women with the intention of getting married were collected and tested for sickle cell disease and thalessemia.
Test results were shared with the couples, and genetic counseling was offered. Following medical advice was voluntary, and couples were free to make their own decisions whether to tie the knot or call it off.
During the period between 2004 and 2009, the frequency of voluntary cancellation of high-risk marriages showed a 5-fold increase.
This was coupled with the finding that between 2004 and 2009, the prevalence of thalessemia decreased from 32.9 to 9.0 per 1,000 examined persons.
The author of the study, Dr. Ziad Ahmed Memish concluded, “Six years of premarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades.”
The statistics may seem rare to some optimistic couples eager to get married, thinking nothing bad could happen, but genetic disorders do occur.
High-risk couples can tie the knot, but at least they are informed and can request adequate screening for their newborns in the future, to avoid tragedy like what happened in my family, twenty-five years ago.
My whole family rejoiced at the birth of the fourth child, a little baby boy, Omar. We had been two girls and one boy and were all perfectly healthy, energetic, and playful kids –too playful my mom used to complain! So our parents had no reason to suspect that Omar would be any different.
He was four days old when we checked up on him in his crib and found him to be literally dark blue in color, motionless, and not breathing.
I can still remember my dad put his tiny body on the kitchen table and performing CPR while calling the emergency department at the same time.
My mother was hysterically wailing when the ambulance arrived and whisked the baby and my dad away. Everyone at the hospital said that he would not make it; he was in coma, and none knew what had caused it.
After a couple heart-wrenching days, an amazing physician conducted rigorous testing and detailed analysis of family history; my parents were first cousins.
The doctor discovered that Omar had a rare genetic disorder, MSUD. Omar survived, but his recovery and the learning process of the management of the disease was a long and painful one. Throughout the years, my mom has shared her story to increase awareness and to help other families cope with living with MSUD.
Scheduling pre-marital screening is not some annoying task to check off of a busy bride and groom’s to-do list; it may be a life-saving measure.
This article was first published in the Saudi Gazette on April 4th, 2015.SHOW MORE