Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar

Premarital screening (PMS) programs have been increasingly implemented in various countries due to their potential to reduce the incidence of genetic conditions. In Qatar, a PMS program has been in place as a mandatory prerequisite for marriage since 2009 and its outcomes have not been explored. To assess the outcomes of the national premarital screening for cystic fibrosis (CF), Homocystinuria (HCU), and Spinal Muscular Atrophy (SMA) in Qatar and to provide insights and guide program’s improvements. A retrospective population-based study on the PMS testing results for CF, HCU and SMA from 2009 to 2023. A total of 75,767 tests were initiated within this period with 99% of samples belonging to nationals. Testing for CF (47%) and HCU (48%) was similarly high compared to SMA which was significantly lower (5%), consistent with SMA’s optional screening status. The most common age at marriage was 20–30 years for females and 31–40 years for males. Carrier rates were highest for SMA (4.47%), followed by HCU (2.06%) and CF (1.46%). Among high-risk couples, 43.5% were positive for SMA, 30.5% for HCU, and 25.9% for CF. Consanguinity was reported in 46% of high-risk couples (where data was available) and was significantly associated with a higher likelihood of positive results (p < 0.001). More than half (53.6%) of high-risk couples continued with marriage. Among those, 85.2% had no affected children reported. Use of reproductive assistance with genetic testing was observed in 35.7% of positive couples, while 21.4% did not use it. Importantly, use of such technology was significantly associated with a reduced incidence of affected children (P = 0.024). Qatar’s PMS program was effective in reducing the incidence of the specified conditions. However, the absence of affected children among high-risk couples may be influenced by various factors. Therefore, while the results are encouraging, they should be interpreted with caution. Our findings highlight the need for enhanced risk counseling after positive results, and the need for public educational campaigns on the importance of premarital testing, the potential risks associated with consanguinity and the availability of reproductive technologies that may be utilized as a preventative option.