Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia

Abstract

The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis (n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome (n = 161) and sickle cell anemia (n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

Trends of Hospital Admissions Due to Congenital Anomalies in England and Wales between 1999 and 2019: An Ecological Study

“…In the UK, a mid-pregnancy or anomaly scan is usually carried at the 20th week of pregnancy, which leads to a late diagnosis of some fetal malformations, such as anencephaly, omphalocele, and limb anomalies that can be detected earlier at 10-14 weeks of pregnancy [42][43][44]. Better diagnostics procedures (such as Magnetic Resonance Imaging (MRI), genetic testing, Molecular testing of the chorionic villus sample (CVS) or amniocytes, fetal blood sample, a direct biopsy of fetal tissue, and Non-invasive prenatal diagnosis (NIPD)) help in the early detection of congenital anomalies during the perinatal period (earlier than 20 weeks of pregnancy and during the first trimester) [45,46], which facilitate early informed decision-making, including the option of early pregnancy termination and thus, decrease the probability of having newborns with congenital anomalies and its associated complications and hospitalisation. Termination of pregnancy practices differ from country to another based on their own regulations.…”

Sickle cell disease patients’ health‐related quality of life in the southern region of Saudi Arabia

“…3 Specific information on the prevalence of SCD in Saudi Arabia is inconsistent; however, data derived from the Saudi Premarital Screening Program database, which includes 488,315 individuals, indicated that 4.2% of the screened population has the sickle cell trait and 0.26% of these individuals have sickle cell disease. 4 The high prevalence of SCD in Saudi Arabia is because of substantial consanguinity among first cousins (>50% of total marriages) [5][6][7] and general knowledge of genetics in Arab countries lacks understanding the fundamental characteristics of genetic diseases. 6 Sickle cell disease is a hereditary anaemia that results from the presence of a mutated form of haemoglobin, haemoglobin S, which causes red blood cells to become rigid, sticky and misshapen.…”

“…4 The high prevalence of SCD in Saudi Arabia is because of substantial consanguinity among first cousins (>50% of total marriages) [5][6][7] and general knowledge of genetics in Arab countries lacks understanding the fundamental characteristics of genetic diseases. 6 Sickle cell disease is a hereditary anaemia that results from the presence of a mutated form of haemoglobin, haemoglobin S, which causes red blood cells to become rigid, sticky and misshapen. 1 HbS arises from a mutation substituting thymine for adenine in the sixth codon of the beta-chain gene.…”

Whole-Genome Sequencing Reveals Exonic Variation of ASIC5 Gene Results in Recurrent Pregnancy Loss

“…The molecular mechanism behind the death of the fetus in relation to the homozygous NM_017419.3:c.680G>T at exon 4 (ASIC5 Saudi ) in the ASIC5 gene should be studied in detail. Early prenatal diagnosis of pathogenic variation like ASIC5 Saudi can provide a choice for the parent to decide pregnancy termination within the allowed time among high-consanguinity population (60). and encouragement.…”