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