- This topic has 1 reply, 2 voices, and was last updated 2 weeks, 3 days ago by
.
-
Posts
-
-
-
What happens next depends mainly on two things: whether the soft marker is truly isolated, and what aneuploidy screening you have already had.
• Confirming the marker is isolated The first step after any soft marker is identified is usually a detailed anatomy ultrasound, sometimes called a level II scan, performed by a specialist in maternal-fetal medicine or a similarly experienced sonographer. This scan carefully checks every organ system to make sure there is no additional structural finding and no additional soft marker. A marker found together with a structural problem, or together with more than one other soft marker, is handled differently and more individually than a single, truly isolated finding, since the combined chance is higher than any one marker alone would suggest.
• If you have already had cell-free DNA or serum screening with a low-chance result Current guidelines do not recommend pursuing invasive diagnostic testing, meaning chorionic villus sampling or amniocentesis, based on an isolated soft marker alone. Your low-chance screening result already reflects the most accurate information currently available, and the marker does not meaningfully change it.
• If you have not yet had any aneuploidy screening Your care team should walk you through your options, which typically include cell-free DNA screening or, if that is not accessible or affordable, a standard second-trimester blood screening test called a quad screen. This conversation is meant to estimate your individual chance and let you decide, with accurate numbers in hand, whether you want screening, diagnostic testing, or neither.
• If diagnostic testing has already shown a normal chromosome result A soft marker found afterward, or noticed on a later scan, is not considered meaningful for chromosome risk and does not need to be pursued further for that purpose. It may still occasionally warrant simple follow-up, such as confirming a mild kidney finding has resolved, but this is unrelated to chromosome testing.At every step, the decision to pursue further testing is yours to make. A genetic counselor or maternal-fetal medicine specialist can walk through your personal numbers, including your age-related baseline chance, your prior screening results if any, and the specific marker found, so that you are choosing based on your own complete picture rather than the marker in isolation.
`
-
- You must be logged in to reply to this topic.