Screening for Aneuploidies

When there is an extra or missing chromosome in a fetus then that condition is called aneuploidy or first trimester. And the screening test for fetus chromosome disorder is called aneuploidy screening or first-trimester screening. However, this test is not at all required for every pregnant woman. 

Aneuploidy Screening Indication
Listed below are some reasons for which couples may seek a doctor’s advice for a fetus’s genetic condition:

• Advancing of maternal age
• If the couple shares a blood relation
• A possible heredity ailment in either of the partner
• Past record of infertility
• A history of repeated pregnancy loss

 

Pre-Aneuploidy Test Procedure:
Usually, aneuploidy screening or first-trimester screening is performed between weeks 11 and 14 of pregnancy. For this test, you do not require any pre-preparation. You can drink and eat normally before the medical examination.

Aneuploidy or First Trimester Test:
Aneuploidy screening involves blood extract and an ultrasound examination.

For blood extraction, the doctor will extract a small amount of blood from the vein in your arm as a sample for test. Further, the sample is sent to the lab for analysis.

For ultrasound screening, you are asked to lie on your back on the exam table. Following that, a transducer will be placed on your abdomen to send and receive sound waves from the fetus. And the occurring sound waves will be displayed as digital images on the screen. With the help of these images, the doctor will measure the size of the clear space in the tissue at the back of your baby’s neck. 

Since both procedures are very normal, you can return to normal activities instantly.

Results:
Your doctor will use your age and the results of the blood test and ultrasound reports to measure the risk of carrying a baby with down syndrome. 

About 85 percent of the time the test will identify correctly if the fetus is suffering from down syndrome. And about 5 percent of women will have a false-positive result which means that the test result is positive but the baby does not actually have down syndrome. 

And if you have a positive result, you are asked to get the following test done:

• Chronic Villus Sampling
• Amniocentesis
• Cell-free DNA screening

Schedule an online appointment today for any of the above mention tests and get precise guidance regarding fetal’s health and medicine from perinatologist expert Aditi Dubey.