Sidra Medicine and international experts discussed the prevention and treatment of fetal malformation, a problem that results in approximately 3.2 million disabilities every year globally, during the Sidra Medicine Symposia Series event on Tuesday (1). Fetal malformation, also known as birth defects or congenital malformation, is a problem that happens while a baby is developing inside the mother’s body (2). Most birth defects occur during the first three months of pregnancy (2). The most common serious congenital disorders are congenital heart defects, neural tube defects and Down’s syndrome (3).
Dr. Karim D. Kalache, Professor of Obstetrics at Charité University School of Medicine in Germany, spoke about progress and challenges in diagnostic obstetric ultrasound. Dr. Ruben A. Quintero, Professor of Obstetrics and Gynecology at Jackson Memorial Hospital and Director of the Jackson Fetal Therapy Institute in Florida, U.S., discussed intrauterine management, sharing his pioneering work in the field of operative fetoscopy to treat birth defects in utero using minimally invasive techniques. Sidra Medicine’s own Division Chief of Pediatric Surgery, Dr. Guy F. Brisseau, relayed the latest practices for managing fetal malformation after, emphasizing that care for the child and family starts when the diagnosis is made.
Dr. Brisseau said, “SidraMedicine continues to provide quality education opportunities for the local medical community on complex and relevant topics. I’m excited to welcome these renowned experts to Qatar for this interactive workshop and contribute our own expertise to the conversation.”
Birth defects are a diverse group of disorders, which may be caused by a wide range of factors, including inherited disorders caused by gene defects or chromosomal abnormalities, maternal exposure to chemicals, medicines or drugs such as alcohol or tobacco or infectious diseases, such as syphilis and rubella (German measles) (3). Unfortunately, for most birth defects, the cause is unknown (1).
Screening of newborn infants for birth defects is essential for early detection of many birth defects. In 2003, an expanded national newborn screening program for metabolic and endocrine disorders was established in Qatar in collaboration with the University Children’s Hospital of Heidelberg, Germany. The screening involves more than 30 disorders and includes all live births in the country. More recently, the National Premarital Screening and Counseling program was established in Qatar (4).
To advance care in the country, Sidra Medicine is developing a Center of Excellence in Fetal Therapy. This Center will not only diagnose, but offer state-of-the-art treatment for the fetuses when they are still inside their mothers.
1. WHO – Congenital Anomalies
2. National Institutes of Health – Birth Defects
3. WHO – Sixty-third World Health Assembly
4. Centre for Arabic Genomic Studies – Genetic Disorders in Arab Populations: Qatar (PDF)