Screening for Down syndrome

The most exciting time in a woman’s life is when she becomes pregnant and gives birth. They can also be stressful for parents, who may have concerns about the health of their unborn child.


Does Down syndrome screening need to be done?

The Penn Medicine Obstetrics Program offers prenatal genetic screening that can detect potential genetic problems and birth defects. It is possible to perform a noninvasive screening test for Down syndrome. This is much more accurate than the tests that were previously used.

Trisomy 21 or Down syndrome is a condition where there is an additional chromosome 21 in the cells of the fetus. This extra chromosome causes mental retardation and other physical characteristics in Down syndrome-prone children. About 40% of Down syndrome patients will also have serious heart issues. Dr. Michael Mennuti, Penn Medicine's chief of reproductive genetics, says that screening tests can be used to detect if a child is at risk for Down syndrome.


What Screening Tests Can Tell You

Screening tests are not intended to diagnose the condition but provide information about the possibility of having a child with the specific disorder. A first trimester ultrasound or blood test can help you screen for Down syndrome as early as 11-14 weeks into pregnancy. A blood test known as the multiple marker screening test can be used to screen between 15 and 20 week olds. A sequential screen is a combination of the first and second trimester screening tests.

Dr. Mennuti says that each of these tests takes into account the mother's age, blood results and ultrasound measurements to determine if she is at an increased risk of having Down syndrome-related children. These tests cannot detect all cases of Down syndrome, but they can detect 80-90 percent.


What accuracy are the screening tests for Down syndrome?

Prenatal Genetic Diagnosis and Screening Services offers a screening service for trisomy 13, trisomy 13 and Trisomy 18

Dr. Mennuti says that the new screening test is 99 percent accurate in screening women at highest risk of having Down syndrome children. This means that 99 out of 100 women would be identified if they had the test. It can be done as early as 10 week after the start of pregnancy.

Screening tests measure the amount of DNA found in chromosome 21 blood from pregnant women. Down syndrome cells have an additional 21st chromosome which allows them to release more chromosome21 DNA into the maternal blood. This results in a higher level of chromosome-21 DNA than was expected. The mother's blood can then be measured. The results usually arrive within 10 days of the draw.

Parents who discover their child is at risk for an inherited condition such as trisomy 21, have the option of pursuing an invasive diagnostic test, such amniocentesis or chorionic villlus sampling (CVS).


Who should take a screening test

Every woman can have a screening test for Down syndrome during her pregnancy. The decision to take a screening test for Down syndrome is yours. These women are more likely to have a child with chromosomal disorders such as trisomy 21, and should consult a genetic counselor.

  • When they deliver, they must be at least 35
  • A previous child or fetus diagnosed with Down syndrome or chromosome abnormalities
  • A parent or family member with a chromosomal abnormality
  • Ultrasound reveals fetal anomalies

At UrgentWay, our board-certified providers offer women’s health checks to support women to achieve their healthcare objectives.

Comments

Post a Comment

Popular posts from this blog

How Long After UTI Treatment Should a Urine Test Show Leukocytes?

Urinary tract infections (UTIs) are among the most common bacterial infections, especially in women. When diagnosed, they are typically treated with a course of antibiotics to eradicate the bacteria causing the infection. One common sign of infection in the urinary tract is the presence of leukocytes white blood cells in the urine. These cells are part of the body's immune response to infection. A follow-up urine test may be done after treatment to confirm that the infection has cleared. But how long should it take for leukocytes to disappear from the urine after treatment? Understanding the timing, significance, and implications of leukocytes in urine post-treatment is essential for patients and healthcare providers alike. Understanding Leukocytes in Urine Leukocytes are white blood cells that are normally found in the bloodstream and tissues, helping the body fight off infections. When bacteria invade the urinary tract, the immune system sends leukocytes to the site of infect...
Read more

Why Are My UTI Symptoms Not Going Away?

Urinary tract infections (UTIs) are common, especially among women, and are usually resolved with a short course of antibiotics. However, for some individuals, symptoms persist or return shortly after treatment, raising concerns about why the infection isn’t clearing up. This article explores the reasons behind persistent UTI symptoms and what steps can be taken to address them effectively. 1. Understanding UTI Symptoms Common Symptoms of UTIs UTIs typically present with symptoms such as burning during urination, frequent urges to urinate, cloudy or foul-smelling urine, and pelvic discomfort. In more severe cases, fever, chills, or flank pain may indicate a kidney infection. Why Symptoms May Linger Persistent symptoms might indicate an unresolved infection, a resistant bacterial strain, or an entirely different underlying condition. 2. Causes of Persistent UTI Symptoms Antibiotic Resistance One of the most common reasons UTI symptoms don’t resolve is antibiotic resistan...
Read more

The Importance of Employer-Supported Time Off for Postpartum Depression Treatment

Postpartum depression (PPD) is a serious mental health condition affecting many new parents, characterized by persistent sadness, anxiety, and fatigue following childbirth. Recognizing the impact of PPD on both employees and workplace productivity, it's crucial for employers to provide adequate time off for parents seeking treatment. Such support not only aids in the individual's recovery but also fosters a healthier, more inclusive work environment. Understanding Postpartum Depression PPD is more than just the "baby blues"; it's a medical condition that can impair a parent's ability to function effectively at work and home. Symptoms may include severe mood swings, withdrawal from family and friends, and difficulty bonding with the baby. Without proper treatment, PPD can lead to long-term psychological issues and affect the child's development. Legal Framework Supporting Time Off In the United States, several laws provide a foundation for parental ...
Read more