Can You Tell Baby Has Down Syndrome Ultrasound
In July, Olympic golden medal-winning gymnast Shawn Johnson Due east and her husband, NFL player Andrew East, shared a personal video about their pregnancy – and their doctor's concerns that their developing baby might have Down syndrome.
Effectually the 8-minute mark of the video, Shawn and Andrew discuss the moment their doctor discovered two concerning findings at their 20-week ultrasound: the baby'southward kidneys were dilated (a footling more urine visible than normal), and the umbilical cord had but two claret vessels instead of three, which is besides chosen having a single umbilical avenue.
Neither condition is rare – 3% of normal fetuses accept mild increases in fluid in their kidneys and almost 1% of all fetuses accept a single umbilical artery. Yet, having the two findings might be indicative of Down syndrome.
I was struck by her apply of the word "helpless" to describe how they felt in that moment, adding to the stress they already were feeling having previously gone through a miscarriage. Shawn said that every bit "control freak" athletes and new parents, it was difficult to accept that in that location was cypher they could do to better their baby's health. Yet, they could pursue genetic testing if they wanted to know for sure. They opted for testing, and the couple recently shared that their testing came back negative for genetic anomalies – their infant does not have Downward syndrome.
As a maternal-fetal medicine specialist (MFM), I often come across patients who take to brand decisions like Shawn and Andrew did. Their story inspired me to share three basic questions to inquire if your provider is concerned your baby might take Down syndrome.
1. Why do y'all think my infant is at chance for Down syndrome?
In that location are multiple reasons your doctor might be concerned virtually Down syndrome, the about common of which is the age of the female parent. Research has shown that as women age, their eggs tend to develop more chromosomal anomalies.
Your doctor might also be concerned if you had an abnormal screening, such as:
- Prison cell free fetal Deoxyribonucleic acid screen. Also known as non-invasive prenatal testing or screening (NIPT/NIPS), this screening examines DNA fragments in a pregnant woman's claret for potential indicators of a genetic condition. Many patients are choosing to have this test every bit part of routine prenatal care in the outset trimester, fifty-fifty if they are at depression gamble for Downwards syndrome.
- First trimester nuchal translucency screen. This ultrasound exam measures the corporeality of fluid at the back of the babe'south neck. Excessive fluid can indicate a risk for Down syndrome. Adding in results from blood piece of work gives you a numerical take a chance for having a infant with Downwardly syndrome.
- 2nd trimester multiple marker screen. This exam measures chance factors associated with levels of specific substances in a pregnant adult female'south blood that come from the placenta, the infant, or both.
- Ultrasound. Equally in Shawn'due south instance, certain physical findings seen on an ultrasound might exist associated with Downwards syndrome.
2. Practice you lot desire to know for sure before delivery?
It comes downward to your level of business concern about the results. I've had enough of patients who opt for Down syndrome screening and, when the results show elevated chance, decide non to pursue diagnostic testing. That decision is completely OK.
Yet, you might want to have more than certainty whether your child has a genetic condition and potentially which one. Some patients cull to undergo genetic testing to get more information and feel more prepared, while others adopt not to know for their own personal reasons. It'due south entirely the parents' selection.
If y'all do want to know more, nosotros can perform further testing. Talk to your provider, who can recommend the most advisable exam. Certain diagnostic tests are bachelor simply during sure trimesters and some carry a risk of pregnancy loss. Also, continue in mind that some tests require a longer waiting period to return results.
3. What options are available for my stage of pregnancy?
Below are the diagnostic testing options bachelor during the first and second trimester if screening suggests an increased risk for Downwards syndrome. We exercise not screen for Down syndrome later on the second trimester, but invasive testing tin can be performed in the tertiary trimester if new ultrasound findings that are worrisome are institute afterward in pregnancy.
In the offset trimester, you can consider a diagnostic exam such as chorionic villus sampling, which is a biopsy of placental tissue. We unremarkably don't recommend having some other screening test later on you've already had a positive one. However, I'm seeing more patients select cell complimentary fetal DNA screening to avoid the risks of invasive testing.
If your pregnancy was considered depression risk for Down's syndrome but yous had an abnormal NIPT, I'd recommend using this positive predictive value calculator from the National Social club of Genetic Counselors to estimate the take chances. Enter the condition for which your test came dorsum positive (such every bit Down syndrome) and the age you'll be at delivery. The calculator will give y'all the probability that the NIPT result was right and that your baby has Down syndrome. Young women are ofttimes surprised to learn that fifty-fifty though their test came back abnormal, the truthful risk of their babe having Down's syndrome is less than 50%.
In the second trimester, you lot can consider amniocentesis (analyzing the fluid effectually the infant) or fetal claret sampling. These tests provide the most consummate information but do carry a small adventure (less than 1 in 300 for amniocentesis) of pregnancy loss. As such, many patients who have an abnormal 2d trimester screen opt for less-invasive NIPT over diagnostic testing.
A word about aberrant ultrasound screenings
Counseling patients about aberrant ultrasound findings is more complex than discussing side by side steps after abnormal screening results. Recommendations in this scenario must be tailored to the specific aberration the provider sees.
Some abnormalities, such as mild fluid collections in the kidneys and a small-scale or absent nose bone are considered soft markers for Downward syndrome, which means the trait is associated with just not necessarily indicative of the condition. Some of these markers are more indicative of a higher risk of Down's syndrome, such equally increased fluid buildup in the dorsum of the cervix.
If yous have your full ultrasound study and want to learn more than, consider inbound the findings in this Down syndrome risk calculator from Perinatology. Hither, you can utilize the cumulative findings to estimate the risk for the condition and help you decide whether to pursue genetic testing.
We typically don't suggest another round of non-invasive testing when nosotros see major anomalies unless we have a skillful idea of which genetic condition might exist affecting the infant. Diagnostic testing for total number of chromosomes, likewise equally changes similar pocket-size additions or deletions, will gives you more data in the setting of fetal abnormalities.
However, rapid advances in non-invasive testing are changing recommendations. If you're concerned, talk with an MFM nigh next steps that might include advanced diagnostic testing.
Like Shawn Johnson East, you might be nervous or worried about your pregnancy due to positive results from a Down syndrome screening. Whether you desire to know more or you lot'd prefer not to pursue further testing, you lot can attain out to united states of america for data, answers, and back up at any point during your pregnancy.
To visit with an maternal-fetal medicine specialist, call 214-645-8300 or asking an appointment online
Source: https://utswmed.org/medblog/3-questions-ask-about-down-syndrome-testing-during-pregnancy/
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