AS-AS Couple: Prenatal Diagnosis Option

WORLD SICKLE CELL DAY JUNE 19 2020

Today we celebrate the 10 year anniversary of the World Sickle Cell Day. It is a day to raise public awareness of sickle cell disease, and shed light on the challenges experienced by patients and their families and caregivers. In this article we briefly discuss the sickle cell disorder and trait

Pre-Natal Diagnosis
With awareness growing about the attendant consequences of having a child with the sickle cell disorder (SS) in this present age, many young people with the AS or AC genotype continue to take precautions regarding the genotypes of their spouses, as parents who have the benefit of hindsight counselling against their sickle cell trait (AS) children getting involved with their type and religious organizations putting in place strict laws including mandatory genotype testing before joining couples.

Many knowledgeable couples who happen to carry the sickle cell trait however still end up together and look forward to having kids without the sickle cell disease and thankfully scientists continue to work tirelessly to add to the present medical options available; Prenatal diagnosis for genotype, In-vitro fertilization and Bone marrow/Stem cell transplant. These options have been proving beneficial to many of such couples and continue to become increasingly available to all.

Prenatal Diagnosis

Prenatal diagnosis is a procedure done in the first trimester of pregnancy to determine the genotype of the foetus in-utero. Couples with the AS trait who are at risk of having a baby with sickle cell disease are offered this service at about 8th weeks of gestation after being screened and counselled.  It is an ultrasound guided procedure and placental samples are taken from the fetus. Complications that can arise from the procedure include pain, bleeding, and rarely miscarriage. 

Sickle Cell for your Information

Sickle cell disease is an autosomal recessive condition. sickle cell disease is a hereditary blood disorder. If both you are your spouse are AS genotype then you are both carriers of the abnormal gene. During each pregnancy you will have a 1 in 4 (25%) chance of having an affected child SS genotype, a 1 in 4 (25%) chance of a normal child AA genotype, and a 1 in 2 chance (50%) of a carrier child AS genotype. 

The availability of direct prenatal testing can provide a definite answer, rather than a statistical estimate, on whether a foetus has sickle cell disease. The information from prenatal testing may be used to consider different reproductive options. You are advised referral to a geneticist or obstetrician that specializes in prenatal diagnosis.

Medic-ALL.Inc 2014

See also World Sickle Cell Day 

Prenatal Diagnosis: This service is available at various centers across the world

AS/AS Genotype Talk: Shall We?

Perhaps one of the most interesting aspects of the medical profession is that unique feeling that comes with being appreciated by your patient not just after the successful treatment of an ailment but following a counselling session concerning a troubling issue.

One of such issues is that of Genotype Compatibility; the probability of having SS or SC babies in As/As or As/Ac marriages respectively, and the options available to such couples during pregnancy and after the child is born. I have been opportuned to counsel several patients , and even some friends on this very worrisome topic especially amongst young people who are about to settle down.

The neglect of genotype and the attendant grave consequences and social implications of having a sickle-cell child in today's world is increasingly being frowned upon in many quarters and the awareness continues to grow. Many Churches have infact put in place stringent laws to verify the genotype content of intending couples before walking them down the aisle.

Although the final say rests squarely on the intending couples, most Christian organizations have continuously advised "genotypically" incompatible couples against tying the nuptial nut. The advice has become necessary considering the trauma most families have found themselves as a result of ignorance or neglect of the life time consequence of the importance of ascertaining genotype before proclaiming “I do”.

However, with the advent of science, the quest for knowledge and a desire to ensure couples and their HbSS (Haemoglobin SS) child(ren) enjoy a good and trauma free life, several options (ranging from diagnostics to therapeutics) are becoming available in different parts of the world with appreciable success being recorded on nearly a daily basis. Present medical options include prenatal diagnosis, In-vitro fertilization (IVF) and Bone-marrow/Stem-cell transplant after the child is born, all of which are relatively expensive, and are surrounded by notable ethical issues.

I recently received a call from an AS friend (married to an AS wife) whom I had counselled on the option of prenatal diagnosis, he was absolutely elated to share the news of the test result with me (his wife wasn't going to be having an SS baby..it's was infact an AA foetus she was carrying). I am not too sure if he would have being happy to share the news with such excitement if the result had turned out otherwise, but thankfully it didn't. This just goes to show how much scientific advancements are helping couples faced with the genotype dilemma.

Conversely, scientists continue to work tirelessly and are making progress in the development of new medications that prevent the problems in sickle cell patients ; sickling of the red blood cells, improvimg blood flow and delivery of oxygen to the body. Some of these new treatments are already being tested in patients with sickle cell disease, with remarkable results too. With all these improvements in treatments people with sickle cell disease now live longer and have a better quality of life. 

To be Continued....

Medic-ALL.Inc 2014