​Perinatal Genetics Programme

The AKUH Perinatal Genetics Programme is dedicated to providing comprehensive care for expectant parents with concerns about potential genetic conditions in their unborn baby. We offer a range of services and expertise to guide you through informed decision-making during pregnancy.

Conditions We Screen and Monitor

Our programme addresses a wide range of genetic and congenital conditions, including:

  • Chromosomal abnormalities such as Down syndrome.
  • Single-gene disorders like cystic fibrosis, sickle cell disease, and thalassemia.
  • Structural anomalies including congenital heart defects, neural tube defects, and cleft lip/palate.
  • Metabolic disorders such as phenylketonuria (PKU) and maple syrup urine disease.
  • Other hereditary conditions that may affect the health and development of the foetus.

Our​ Approach

We offer a variety of services to support families throughout their journey, including:

  • Prenatal screening tests: Non-invasive prenatal testing (NIPT), chorionic villus sampling (CVS), and amniocentesis to detect genetic abnormalities.
  • Genetic counselling: Personalised sessions to discuss potential risks, test results, and implications for the family throughout the pregnancy journey.
  • Foetal imaging: Advanced ultrasound and foetal MRI to assess foetal development and identify structural anomalies.
  • Postnatal follow-up: Continued support and management for newborns diagnosed with genetic conditions, ensuring a seamless transition from prenatal to postnatal care.

Our Multidisciplinary Team

Our programme brings together a team of specialists for your complete care:

  • Geneticists: Specialists who diagnose and manage genetic disorders, providing critical insights into hereditary conditions.
  • Maternal-foetal medicine specialists: Obstetricians with expertise in high-risk pregnancies and foetal health.
  • Genetic counsellors: Professionals who offer emotional support and detailed information to help families understand their options.
  • Paediatricians: Physicians specialising in the health of newborns, ensuring early intervention and management of detected conditions.
  • Nurses and support staff: Dedicated professionals providing compassionate care and assistance throughout the prenatal and postnatal periods.

To learn more about our highly trained and skilled experts, search on Find a Doctor under the speciality of Paediatric Genetics and Metabolics.     ​

We understand that navigating your family planning and pregnancy journey with genetic concerns can be overwhelming. The AKUH Perinatal Genetics Programme is here to provide you with the knowledge, support, and resources you need to make informed choices for a healthy pregnancy.


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