Screening for Down Syndrome

Down Syndrome: An Introduction

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects individuals from all walks of life, regardless of race or socioeconomic background. People with Down syndrome may experience developmental delays, intellectual disabilities, and distinctive physical features, such as almond-shaped eyes and a flattened facial profile. However, it's important to remember that each person with Down syndrome is unique, possessing their own talents, abilities, and potential.

Prenatal Genetic Screening: Shedding Light on Chromosomal Disorders

Prenatal genetic screening involves assessing the likelihood of a baby having certain genetic conditions, including Down syndrome. It provides parents with valuable information that can help guide their decisions regarding their pregnancy, allowing them to prepare for any potential challenges and access appropriate support.

There are two primary types of prenatal genetic screening tests: non-invasive screening tests and diagnostic tests. Non-invasive screening tests are generally the first step, as they pose minimal risk to both the mother and the developing baby. These tests evaluate the probability of a chromosomal disorder based on factors like the mother's age, hormone levels, and ultrasound measurements.

One widely used non-invasive screening test is the combined test, which combines an ultrasound examination with a blood test. The ultrasound measures the thickness at the back of the baby's neck (nuchal translucency), while the blood test analyzes specific proteins and hormones in the mother's blood. The results are then combined with the mother's age to estimate the risk of Down syndrome.

For those seeking a more definitive diagnosis, tests like chorionic villus sampling (CVS) or amniocentesis can be performed. These tests involve obtaining a sample of the placenta or amniotic fluid and analyzing the baby's chromosomes directly. While diagnostic tests provide a more accurate diagnosis, they carry a slightly higher risk of complications, including miscarriage, compared to non-invasive screening tests.

Who Is Recommended for a Screening Test?

Prenatal genetic screening is often recommended for women over 35 years old as the chance of having a baby with Down syndrome increases with maternal age. However, it is important to remember that most babies with Down syndrome are born to younger mothers, simply because younger women have a higher birth rate overall. This is why screening is recommended for all expectant mothers, regardless of age.

In addition to maternal age, other risk factors include a previous child with Down syndrome, a family history of genetic conditions, or certain abnormalities detected during an ultrasound examination. If any of these risk factors apply to you, it is advisable to discuss prenatal genetic screening with your healthcare provider to make an informed decision about the next steps.

Schedule an Appointment with a Physician

If you are looking for primary care doctors in southern Maryland, then call Southern Maryland Medical Group to schedule a convenient appointment. We are also happy to arrange a walk-in consultation for as soon as possible.