KaiserPermanente, Echogenic Intracardiac Focus (EIF), January 2017.University of California at San Francisco, FAQ: Choroid Plexus Cysts.Medscape General Medicine, Ultrasonographic Soft Markers of Aneuploidy in Second Trimester: Are We Lost?, 2006.Journal of Ultrasound Medicine, What Is the Importance of Second-Trimester “Soft Markers” for Trisomy 21 After an 11- to 14-Week AneuploidyScreening Scan?, 2014.163, Guidelines for Prenatal Diagnostic and Screening Testing for Genetic Disorders, May 2016. The American College of Obstetricians & Gynecologists, Practice Bulletin No., Level 2 Ultrasound: The 20-Week Anatomy Scan, April 2019., Ultrasound During Pregnancy, April 2021.What to Expect When You're Expecting, 5th edition, Heidi Murkoff.Your best friend may say, “Oh, I would have to know!” but you may not feel the same. There are no right answers when it comes to prenatal testing. Definitely talk out the issue with your doctor - and family and friends (if you like) - but in the end, make the decision that feels best for you and your partner if you have one. A genetic counselor can assess your chances of having a child with Down syndrome more accurately, taking into account all of your prenatal test results, your age and other risk factors, as well as talk to you about further tests. Make an appointment to sit down with your practitioner's genetic counselor (if there isn't one, ask for a lengthier sit-down with your regular doctor). In the meantime, here are some steps to take: While technology can lead to extra worry for some parents, for many others, knowing what comes next can make for a much less stressful pregnancy. But keeping tabs on your baby’s growth can be a good thing - and knowledge is power. Whether or not you want further testing, however, is up to you. However, for patients who have had normal results from non-invasive prenatal testing (NIPT), which can be performed anytime after week 9, there would likely be no further testing recommended, as the predictive values for NIPT are typically better than the soft markers with regards to Down’s syndrome. The test will be able to tell you with more than 99 percent accuracy whether your child has Down syndrome or another chromosomal abnormality. If your practitioner spots a soft marker, they will likely offer the option of amniocentesis, which would need to happen between 15 and 20 weeks. Because it's also associated with fetal heart defects, your practitioner may have suggested a fetal echocardiogram at around 20 weeks to screen for heart defects if your baby's measurements were high. This soft marker has a higher correlation to Down syndrome than any other. One soft marker that might have shown up on the first-trimester NT screening (which is always performed between weeks 10 and 13) is nuchal-fold thickening, where the area at the back of a baby’s neck accumulates fluid, causing it to appear thicker than usual.
Absent or shortened nasal bone, this marker has a stronger link with Down Syndrome than most others.Mild cerebral ventriculomegaly, cerebral spinal fluid (CSF) is trapped in the brain’s ventricles, causing them to dilate and grow abnormally large.Short femur and/or humerus, or the length of the thigh or arm bones is smaller than normal.Renal pyelectasis, which means the main area of a kidney is enlarged.Choroid plexus cysts (CPC), a fluid-filled space in the brain which appears as a cyst and is not considered a brain abnormality, which is more commonly associated with trisomy 18.Echogenic bowel, which means the bowel area appears brighter than normal.Echogenic intraventricular focus (EIF), a small bright spot on the baby’s heart that could come from calcium deposits.
Here are common soft markers that show up in the second-trimester ultrasound: So talk to your practitioner about the particular markers your ultrasound picked up. Each needs to be interpreted in the context of other screenings, structural anomalies and risk factors. In fact, these markers are spotted on as many as 11 to 17 percent of all babies.
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