Genetic testing guidelines for families planning a second pregnancy when the first child has a developmental condition

This article is based on a conversation with Dr. Prajnya Ranganath, a medical geneticist. It focuses on the importance of genetic testing of the first child with a neurodevelopmental disorder, in order to help plan subsequent pregnancies.

Genetic testing

Why get it done?

Many neurodevelopmental conditions have a genetic basis, with studies showing that up to 70% of children with such conditions have an underlying genetic cause – a chromosomal abnormality or a gene disorder. 

A thorough evaluation should be carried out, to first determine whether the child’s condition has genetic basis. 

Further genetic testing can help identify the underlying genetic anomaly.

When to get it done?

Once a genetic basis of the developmental condition has been determined, further genetic testing of the first child will help identify the underlying genetic cause.

• This should ideally be done before parents plan for subsequent pregnancies, because genetic testing is often time consuming and may involve multiple diagnostic screening steps in order to appropriately identify the genetic anomalies. 
• It is therefore recommended, if there is a child with any neurodevelopmental condition:
  • They should get a complete assessment of the child
  • Determine the cause of the existing condition
  • Plan for future pregnancies post evaluations and genetic screening of the child
• In case of having missed performing genetic screening before the next pregnancy:
  • Parents can approach a clinical geneticist during the early first trimester 
  • Evaluation and genetic screening of the first child with developmental disabilities
  • Prenatal testing for the second pregnancy

DISCLAIMER: Please note that this guide is for information purposes only. Please consult a qualified health practitioner for safe management

If you have questions about Autism, Down Syndrome, ADHD, or other intellectual disabilities, or have concerns about developmental delays in a child, the Nayi Disha team is here to help. For any questions or queries, please contact our FREE Helpline at 844-844-8996. You can call or what’s app us. Our counselors speak different languages including English, Hindi, Malayalam, Gujarati, Marathi, Telugu, and Bengali.