PRENATAL AND NEONATAL GENETIC SCREENING IN PAKISTAN
Prenatal Genetic Screening:
Prenatal genetic screening is a set of tests done during pregnancy to access whether a baby
might be at risk of having certain genetic disorders or chromosomal abnormalities. These
tests do not diagnose a condition directly, but they help to identify the pregnancies that may
need further diagnostic testing. (Majid et al. 2022)
Prenatal Genetic Screening looks for:
Chromosomal abnormalities:
Down syndrome
Edwards syndrome
Patau syndrome
Inherited genetic disorders:
Thalassemia
Cystic fibrosis
Sickle cell disease
Neural tube defects:
Spina bifida
Types of Prenatal Genetic Screening
1. Chorionic Villus Sampling (CVS)
CVS has been used for diagnosing genetic disorders including thalassemia and some
chromosomal abnormalities. For example: Down syndrome (Sultana et al., 2009)
2. Non-Invasive Prenatal Testing (NIPT)
It is available in some private hospitals or labs not in public hospitals yet. For example: NIPT
offers screening for aneuploidies such as trisomy 21, trisomy 18 and trisomy 13.
(Implementation of Public Health Genomics in Pakistan, 2019)
Other condition and advance testing:
For condition beyond thalassemia and common chromosomal abnormalities some private labs
offer test for cystic fibrosis. (Arif et al.)
Neonatal Genetic Screening:
Neonatal genetic screening, often referred to as newborn screening, is a public health
program aimed at the early identification of conditions in newborns that can affect their long-
term health or survival. Early detection allows for timely intervention and treatment, which
can significantly improve the outcomes. (Majid et al., 2022)
Purpose of neonatal genetic screening:
Early detection of rare, serious, but treatable conditions
Prevent intellectual disability, developmental delays, or death
Initiate early treatment (like diet, hormones, or medications)
Types of neonatal genetic screening
1. Metabolic Disorders:
These are genetic conditions where the baby’s body cannot properly process certain proteins,
fats, or sugars. This leads to the buildup of toxic substances or the lack of necessary
compounds for growth. (Mansoor et al., 2020)
Common examples include: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD)
If not detected early, these disorders can cause brain damage, developmental delays, or even
death. However, many of them can be managed with special diets or medications if diagnosed
early through newborn screening. (Mansoor et al., 2020)
2. Hormonal (Endocrine) Disorders:
These disorders affect the baby’s hormone production and can lead to serious health
problems if untreated. (Majid et al., 2022)
For example:
Congenital Hypothyroidism
where the thyroid gland doesn’t produce enough hormones needed for brain
development. (Khan et al.,2020)
Congenital Adrenal Hyperplasia (CAH),
which affects hormone levels related to salt balance and sexual development. Early
detection through screening allows for hormone replacement therapy, preventing life-
threatening complications. (Khan et al., JPMA, 2020)
3. Hemoglobin Disorders:
Hemoglobin disorders are inherited blood conditions that affect the structure or production of
hemoglobin, the protein in red blood cells that carries oxygen. (Shaikh et al., 2022)
For example:
Sickle Cell Disease and Thalassemia are the most well-known types. These conditions can
lead to anemia, fatigue, pain, and organ damage. Early diagnosis enables better disease
management through medications, regular monitoring, and in some cases, blood transfusions.
(Shaikh et al., 2022)
5. Immune System Disorders:
Neonatal screening can also detect rare immune deficiencies
For example:
Severe Combined Immunodeficiency (SCID), where the baby is born with a severely
weakened immune system. Babies with SCID are extremely vulnerable to infections, and
without early treatment—such as a bone marrow transplant—they may not survive infancy.
Early screening helps in initiating lifesaving interventions as soon as possible. (Perspective
on Newborn Screening Pakistan, 2022)
Key Hospitals & Programs:
1. Aga Khan University Hospital (AKUH), Karachi
Offers screening for 12 inherited metabolic disorders via heel prick test.
Uses advanced LC-MS/MS technology (mass spectrometry).
Disorders screened: hypothyroidism, adrenal hyperplasia, MSUD, homocystinuria,
etc. (Dawn News, 2023)
2. PIMS (Pakistan Institute of Medical Sciences), Islamabad
Conducts screening for congenital hypothyroidism and hearing disorders.
Testing for thyroid function is done in collaboration with nuclear medicine
departments. (Zaidi et al., 2018)
3. Shifa International Hospital, Islamabad
Provides diagnostic testing for suspected genetic/metabolic cases, but no routine
screening. (Dawn News, 2023)
Future aspects of prenatal and neonatal genetic screening in Pakistan
This ensure uniform access to screening services across the country, including rural and
underserved areas. Such a program could prioritize high-impact, treatable conditions
prevalent in Pakistan, like congenital hypothyroidism, thalassemia, and certain metabolic
disorders. (Perspective on Newborn Screening Pakistan, 2022)
Advances in Genetic Technologies
These technologies can detect a much wider range of genetic conditions earlier and with
higher accuracy. Pakistan’s healthcare system could gradually integrate these tools as
infrastructure and expertise grow. (Ahmed & Malik, 2021)
Public Awareness and Education Campaigns
Improved awareness campaigns tailored to Pakistan’s cultural and social context can increase
acceptance of prenatal and neonatal screening. Educating healthcare providers, parents, and
communities about the benefits of early diagnosis and treatment will be essential. (Javed et
al., 2020)
Cost Reduction and Insurance Coverage
As genetic testing technologies become cheaper, and if health insurance systems expand, the
affordability of screening will improve. Government subsidies or public-private partnerships
could also help make these services accessible to low-income families. (Khan et al., 2021)
Conclusion
Genetic screening for newborns and prenatal testing in Pakistan is still limited but crucial for
early disease detection and treatment. With better policies, awareness, and technology,
Pakistan can expand these services nationwide, improving health outcomes and reducing
genetic disorders in the future. (Saeed, A., & Khan, M. 2023)