Author -  Dr Ekawali Gupta

MBBS, MS Degree in OBG, Consultant,

Consultant Obstetrician and Gynaecologist, Mohali.

Understanding Down Syndrome

Introduction:

Down syndrome is a genetic condition that affects a significant number of families worldwide, and India is no exception. With increasing awareness and medical advancements, there are ways to manage and even prevent the risk of having a child with Down syndrome. According to  Dr Ekawali Gupta , MBBS, MS Degree in OBG, Consultant Obstetrician and Gynaecologist this blog aims to shed light on this sensitive topic and provide actionable steps for expectant mothers.

What is Down Syndrome?

Down syndrome is a genetic disorder that occurs when an individual has an extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics we associate with Down syndrome.

How is it Caused?

The condition is usually caused by an error in cell division, resulting in an extra full or partial copy of chromosome 21. The reasons for this abnormal cell division are still not entirely understood but are believed to be a combination of genetic and environmental factors.

Risk Factors

Understanding the risk factors associated with Down syndrome can help in taking preventive measures. Here are some of the key factors:

Maternal Age

• 35-39 Years: Women in this age group have a 1 in 350 chance of having a child with Down syndrome.
• 40-44 Years: The risk increases to 1 in 100 for women aged between 40 and 44.
• 45 Years and Above: For women over 45, the risk further escalates to 1 in 30.

Paternal Age

While maternal age is often highlighted, research suggests that advanced paternal age can also contribute to the risk, especially when combined with advanced maternal age.

Previous Child with Down Syndrome

If a family already has a child with Down syndrome, the risk for subsequent children increases. The recurrence risk is about 1% regardless of maternal age.

Genetic Translocation

In some cases, Down syndrome occurs due to a genetic translocation where a part of chromosome 21 attaches to another chromosome. The risk increases if either parent is a balanced carrier of the translocation.

Family History

A family history of Down syndrome or other genetic conditions can elevate the risk. Genetic counseling can provide a clearer picture of the risk based on family medical history.

Family Planning

• Early Parenthood: Opting for early parenthood can be a strategic choice, especially for women, as the risk of Down syndrome increases with maternal age.
• Genetic Testing Before Pregnancy: Couples with a family history of genetic disorders can opt for genetic testing even before planning a pregnancy.

Pre-implantation Genetic Diagnosis (PGD)

• What is PGD?: This technique is used in conjunction with in-vitro fertilization (IVF) to screen embryos for genetic conditions.
• Who Should Consider PGD?: Couples who have a high risk of passing on genetic disorders, including Down syndrome, should consider this option.
• Limitations: It’s important to note that PGD can be expensive and is not 100% foolproof.

Prenatal Screening

• First Trimester: Tests like the nuchal translucency scan can provide early indicators.
• Second Trimester: The triple or quadruple test can further assess the risk.
• Invasive Testing: In high-risk cases, doctors may recommend invasive tests like amniocentesis or chorionic villus sampling (CVS).

Consulting Healthcare Professionals

Importance of Genetic Counseling

If you’re at a higher risk of having a child with Down syndrome, consulting a genetic counselor can provide valuable insights. They can guide you through the available tests, their implications, and help you make informed decisions.

When to Consult a Doctor

If you’re planning a pregnancy or are already pregnant, it’s crucial to consult a healthcare provider for a comprehensive prenatal care plan. This is especially important for women over the age of 35 or those with a family history of genetic disorders.

Conclusion

Preventing Down syndrome is a complex issue that involves a combination of genetic, environmental, and lifestyle factors. While it’s not entirely preventable, understanding the risk factors and taking proactive steps can significantly reduce the risks. Regular prenatal check-ups, genetic counseling, and advanced screenings are essential components of a proactive healthcare approach.

Dr Ekawali Gupta will respond to your query as soon as possible. For emergencies please call and reach Motherhood Hospital, Mohali.

At Motherhood Hospitals, we have a team of experienced supers specialists backed by the latest infrastructure and facilities. We have the best gynaecologist in Mohali. We are experts in handling complex deliveries, gynecological, and other surgeries including a range of laparoscopic surgeries. 

Do make an appointment with the best woman care hospital in Mohali at a center closest to you. Meet with our doctors who will carry out the required investigations, diagnose the issue, and recommend the most appropriate treatment, enabling you to lead an active life. 

If you wish to get in touch with Dr. Ekawali Gupta, please book your appointment here.