Congenital Heart Defects (CHDs) are among the most common birth abnormalities, affecting nearly 1 in every 100 newborns worldwide. While medical advances have improved the diagnosis and treatment of CHDs, understanding their genetic basis is equally crucial for families planning a pregnancy or undergoing fertility treatments.

What are Congenital Heart Defects?

A congenital heart defect is a problem in the structure of the heart that is present at birth. These defects may affect how blood flows through the heart and body. CHDs range from mild conditions such as a small hole in the heart to more complex abnormalities requiring surgical intervention.

The Role of Genetics in CHDs

Research suggests that genetic factors play a key role in the development of CHDs.

  • Chromosomal abnormalities: Conditions like Down Syndrome (Trisomy 21), Turner Syndrome, and DiGeorge Syndrome are commonly associated with heart defects.

  • Single-gene mutations: Mutations in genes that control heart development can increase the risk of CHDs.

  • Family history: If one parent has a congenital heart defect, the risk of their child being born with a similar condition is significantly higher.

  • Multifactorial causes: Sometimes, CHDs occur due to a combination of genetic susceptibility and environmental factors such as maternal diabetes, infections during pregnancy, or certain medications.

Importance of Genetic Counseling in CHDs

For couples undergoing fertility treatments like IVF, genetic evaluation and counseling can help:

  • Assess the risk of passing heart defects to the child.

  • Provide options such as Preimplantation Genetic Testing (PGT) during IVF to reduce the chances of inherited conditions.

  • Plan for early detection and management through fetal echocardiography.

Can CHDs be Prevented?

Not all congenital heart defects can be prevented, but steps can reduce risks:

  • Opting for genetic counseling before planning a pregnancy.

  • Maintaining a healthy lifestyle and managing pre-existing conditions like diabetes.

  • Avoiding alcohol, smoking, and harmful medications during pregnancy.

  • Considering advanced fertility techniques when there is a known family history of genetic disorders.

Aashakiran IVF’s Role

At Aashakiran IVF Pvt. Ltd., our expert team led by Dr. Asmita Mahla (Medical Director, 20+ years of experience), Dr. Jagjit Singh (Executive Director), and Dr. Shivani (Obs & Gynae) provides personalized fertility care with special attention to genetic health. With state-of-the-art facilities in Kharar, Ludhiana, Amritsar, and Bathinda, we offer advanced screening and genetic testing to help parents reduce the risk of inherited disorders, ensuring healthier pregnancies.

Parenthood is a journey of hope, love, and science. By combining fertility treatments with modern genetics, we help families embrace parenthood with confidence and care.

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