27.06.2025

Imagine that you’ve just learned your family is expecting a baby. Joy, happiness, and pride fill your heart. At the same time, you feel a hint of anxiety which result in numerous questions. Where to get reliable health checks for your unborn child, which specialists to trust, and how to avoid losing precious time, especially if you live outside the capital with its multitude of medical centers.

In Atyrau Region, with support from Chevron, AYALA Charity Foundation is implementing a project to equip the Regional Perinatal Center with a state-of-the-art high-powered microscope for advanced genetic screening of pregnant women. The equipment will be delivered to the «One-Day Clinic» by the end of this year, making expert diagnostics for fetal chromosomal abnormalities not only highly accurate but also accessible through the compulsory health insurance system (OSMS). The project aims to reduce birth disabilities.

Why This Is Important
According to specialists, about 5-10% of pregnancies in Kazakhstan are at risk of congenital developmental abnormalities. Genetic screening makes it possible to detect pathologies early and make informed decisions about further pregnancy management. Currently, there are 18 «One-Day Clinics» operating in the country. According to the Ministry of Health, they provide genetic screening to up to 100,000 pregnant women annually. The FISH method used for diagnosing chromosomal abnormalities is the «gold standard» recognized worldwide. It quickly determines the presence of Down, Edwards, and Patau syndromes.

— We can see a decline in childhood disability and infant mortality rates in regions where the clinics have become fully operational. This confirms the project’s effectiveness,» says Gulshara Abildinova, MD, PhD, Professor, Chief Freelance Geneticist of the Ministry of Healthcare of the Republic of Kazakhstan

The expert notes that congenital genetic disorders have always existed and will continue to exist: gene mutations are a result of evolution.

Currently, we’re seeing an increase in autosomal disorders related to germ cell mutations. There’s also a specific category of developmental abnormalities associated with folic acid deficiency. However, the greatest threat comes from autosomal recessive diseases where both mother and father are mutation carriers. These include spinal muscular atrophy, neurofibromatosis, Gaucher’s disease, phenylketonuria, hereditary hearing loss, and other conditions,» Gulshara Zhusupovna explains.

The Ministry of Healthcare is conducting extensive work on mass reproductive screening. This screening is completely free of charge under the compulsory health insurance (OSMS) and is available to married couples, young families, and adult men and women. Through this examination, people can learn which genes they carry. Such information allows for proper pregnancy planning. For example, if a woman is a carrier of the spinal muscular atrophy gene, her husband must be tested for the same gene. This procedure enables couples to take appropriate steps for having a healthy child. Currently, such tests are available at 20 Fetal Protection Centers based in the Regional Perinatal Centers in all regions

Investment in Diagnostics: Atyrau to Receive Expert-Level Genetic Equipment

Kazbek Yermagambetov, Director of the Atyrau Regional Perinatal Center, believes that genetic testing using advanced microscopy will promote healthier births:

— Our center handles up to 8,000 deliveries annually — nearly 60% of the region’s total. In the first five months of 2025, we performed expert ultrasound screening for over 2,000 women, with 1,422 completing biochemical prenatal screening. Of these, 780 were referred for medical-genetic counseling, and 35 women required invasive prenatal diagnostics. 73 complex cases were reviewed by the multidisciplinary Prenatal Council of our Center. The new chromosomal abnormality microscope will ensure diagnostic precision and dramatically reduce the time for awaiting results,» Kazbek Aizharykovich emphasized.

The Fetal Protection Center in Atyrau has been operating since early 2025. It already houses a biochemical laboratory, cytogenetics lab, expert ultrasound diagnostics department, and has a psychologist. The new equipment will significantly expand diagnostic capabilities.

According to Ainur Moldagaliyeva, Chief Freelance Geneticist of the Atyrau Regional Health Department, the microscope that AYALA Foundation is purchasing with support from Chevron is world-class research equipment. Unlike standard lab microscopes, the new instrument allows not just counting chromosomes – but also seeing their structure, architecture, and even cases when chromosome segments exchange with others.

— We’ll be able to perform complex genetic analyses within a single day. This is particularly crucial for making clinical decisions when time is critical,» the specialist notes.

A child’s health begins before conception

One of geneticists’ key recommendations is for both parents to take folic acid for 2-3 months prior to conception, which significantly reduces the risk of congenital abnormalities.

— The birth of a healthy child is not just a medical issue, but a matter of national security, Professor Gulsara Abildinova, Chief Freelance Geneticist of the Republic of Kazakhstan, emphasizes. — This is why the Ministry of Healthcare is developing the network of “One-Day Clinics”, which provide pregnant women with access to comprehensive expert genetic diagnostics — quickly, in a single day, at one location, and using global best practices.

The first “One-Day Clinic” as a pilot project was launched in March 2024 at the Almaty Center for Perinatology and Pediatric Cardiac Surgery, where Chevron and AYALA Foundation provided the necessary equipment. Implementation of the project in Almaty was recognized as exemplary, and it has been developing in other regions of the country including Atyrau.

To ensure successful scaling and compliance with Fetal Medicine Foundation international standards, approximately 200 prenatal ultrasound specialists has been certified and 20 geneticists has been trained in Kazakhstan. At the Atyrau Regional Perinatal Center, expert ultrasound diagnostics are performed by 4 specialists, including the Chief Freelance Ultrasound Specialist (highest category) and 2 ultrasound specialists with active international certifications in first-trimester advanced diagnostics.

For AYALA Charity Foundation, the project at the Atyrau Regional Perinatal Center is one more step toward reducing childhood disabilities from birth in Kazakhstan. Aidan Suleimenova, Founder and President of AYALA Charity Foundation, emphasizes:

— For 18 years we’ve worked to make cutting-edge medical technologies accessible across all regional centers. Atyrau Region is strategically vital for Kazakhstan, and we’re proud that with Chevron’s support, we can assist in enhancing genetic services and healthy births.