Antenatal Screening Crucial to Help Prevent Genetic Disorders

Prenatal screening for congenital and genetic diseases helps would-be mothers feel less stressed about their baby’s health and prepares them for better child delivery.

“One of the major issues in prenatal screening is lack of public information on how the procedure works, and which diseases can be screened for,” said Dr. Majid Sezavar-Kamali, head of the prenatal screening section of the 10th International and 15th National Congress on Quality Improvement in Clinical Laboratories, slated for April 20-23 in Tehran.

Prenatal screening tests are a set of procedures that are performed during pregnancy on expectant mothers to determine whether a baby is likely to have specific birth defects.

“Most of the tests are noninvasive, and usually performed during the first and second trimesters, although some are performed during the third,” said Sezavar-Kamali, Mehr News Agency reported.

“A screening test can only determine the risk or the probability that a particular condition exists; when the results of a screening are positive, diagnostic tests can provide a definitive answer,” he said.

Around 1-2% of children are born with some kind of birth defect. Early diagnosis, particularly before the 19th week of pregnancy can help prevent defective births as congenital disorders in children impose heavy financial and psychological burden on parents.

Some prenatal screening tests are routine, such as glucose tolerance tests, which check for gestational diabetes. Women who have a higher risk of having a child with certain conditions are usually offered additional screening.

For instance, pregnant women who’ve lived in regions where tuberculosis is common should be tested for the infectious disease.

Sezavar-Kamali added that prenatal screening can prevent further burden of social and economic problems by addressing the issue of genetic defects before birth.

Prenatal screening was first introduced in the world almost four decades ago, yet gaps exist in public knowledge about the screening program, particularly in the remote and underprivileged areas.

  Screening Facilities Exist

For years, effective communication and counseling strategies were adopted in Iran to control a prevalent genetic health problem, thalassemia major, through the primary healthcare system.

“We have the facilities to screen expectant mothers for almost all common genetic defects, but there are families who are unaware of the modern technology or that such defects exist and can happen,” Sezavar-Kamali said, stressing that more should be done in the area of information and edification of families with regards to genetic defects and how to avoid them.

Sezavar-Kamali is a Ph.D in Laboratory Sciences from Mashhad University of Medical Sciences, and is a three-time member of the board of directors at Iran Medical Council. He conducted the first study on Hepatitis C among hemophilic patients, and founded the first virology laboratory in Khorasan Razavi Province, at Mashhad’s Qaem Hospital.

The number of children with genetic defects in Iran increased by 5% in 2013-2014, he said. At present, there are 1.1 million people with disabilities in the country, including 40,000 severely handicapped. The number increases by 20%-30% (40,000 people) annually due to a number of reasons including traffic accidents and genetic disorders, according to Anoushiravan Mohseni Bandpei, head of the State Welfare Organization.

The international event will focus on various challenges in prenatal screening. Several foreign experts are expected to attend the conclave including Professor Nicholas Wald, the founding director of the Wolfson Institute in the UK and head of the British Center of Environmental and Preventive Medicine at the institute.

Prof. Wald is known internationally for his research in epidemiology and preventive medicine, and has pioneered the field of antenatal screening for congenital malformation and made discoveries that form the basis of screening for neural tube defects and Down’s syndrome in early pregnancy.