Can Down Syndrome Be Detected in Newborn Screening?

All pregnant women, regardless of age, should have the choice of undergoing screening and diagnostic tests for Down Syndrome. The American College of Obstetricians and Gynecologists stated this not as a request, but more of a mandatory part of prenatal care for mothers, regardless of their probability of having children with Trisomy 13.

Significance of Screening and Diagnosing

Screening tests reveal if a mother is likely to be carrying a child with Down Syndrome or not. However, these tests cannot definitively determine or diagnose if the infant has Down syndrome but will just give indications that suggest one or more conditions that may suggest the development of a certain condition not limited to DS. On the other hand, undergoing diagnostic tests can help determine whether the children have Down Syndrome or some other medical condition that needs immediate attention.

There are various types of tests related to Down Syndrome, each of which has associated benefits and risks. Moreover, the significance of the results is only sometimes conclusive. The parents must first discuss these with the physician to gain clarity during consultations. During these sessions, the doctor may suggest that the parents consult a genetics counselor to provide an in-depth explanation of the findings.

Can Down Syndrome Be Detected in Newborn Screening?

In relation to these things, can Down Syndrome be detected in newborn screening? The answer is yes, but getting screened and diagnosed before childbirth is better. This ensures that the mother and child receive the best care possible. As Down Syndrome management provides better results when implemented early into the diagnosis, this helps minimize the developmental delay that the children may have during their formative years.

Diagnostic and Screening Tests for Down Syndrome

Integrated Screening Test

The integrated screening test is administered during the first and the second trimesters. Based on these tests, the clinicians will pool the findings to calculate the probability of the child having Down Syndrome. Estriol, inhibin A, HCG, and alpha-fetoprotein are some chemicals the quad screen measures in the blood during pregnancy.

Blood Test

The pregnancy hormone known as human chorionic gonadotropin (HCG) and the pregnancy-associated plasma protein-A (PAPP-A) are both measured in this blood test (HCG). PAPP-A and HCG levels beyond the expected values may hint at a possible medical condition.

Nuchal Translucency Test

The back of the baby's neck will be measured with ultrasound during this procedure. This is referred to as a screening test for nuchal translucency. Fluid tends to accumulate in this neck tissue more than usual when abnormalities are present.

Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis is another option for couples undergoing in vitro fertilization who are at increased risk of passing on specific genetic disorders. The embryo is examined for genetic flaws before being introduced into the womb.

Amniocentesis

A needle is introduced into the mother's uterus to remove a sample of the amniotic fluid around the fetus. The chromosomes of the fetus are then examined using this sample. Doctors typically administer this test in the second trimester, typically after the 15-week mark. Take note that this test somewhat increases the risk of having a miscarriage.

Chorionic Villus Sampling (CVS)

This test requires the cells extracted from the placenta. These cells will then be examined for the composition of the fetal chromosomes. Unlike amniocentesis, a CVS has minimal chance of resulting in pregnancy loss (miscarriage).

The Chromosomal Karyotype

The doctor will request a test called a chromosomal karyotype after the mother gives birth to the child to confirm the diagnosis of Down Syndrome. The physician may do this after the visual inspection of the infant. The test examines the child's chromosomes using blood samples. Down syndrome results from an extra copy of chromosome 21 in all or some cells.