A soft marker may indicate an increased likelihood of a chromosomal abnormality — but it's simply not very reliable, especially considered outside of the bigger picture. Some soft markers have a higher association with Down syndrome than others. Many are spotted in fetuses without any genetic abnormalities and resolve before birth. In fact, these markers are spotted on as many as 11 to 17 percent of all healthy babies. Each needs to be interpreted in the context of other screenings, structural anomalies and risk factors.
Plus, having two soft markers for Down syndrome is nowhere near a diagnosis, and the statistics are likely in your favor. Axial image of the fetal head shows a Sofg plexus cyst. Any marker isolated, multiple or combined with anomaly. Soft tissue mxrkers measured from the outer echogenic line of occipital bone to the outer echogenic skin line. Soft markers fetus use of second trimester genetic Soft markers fetus in guiding clinical management of patients at increased risk for fetal trisomy Philadelphia, Pa: Gay escort raleigh Saunders; Fetal mild hydronephrosis and chromosomal defects: relation to maternal age and gestation. Obstet Gynecol Clin North Am.
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Latest news Monkeys: Past social stress impacts genes, health. It increases with gestational age and is lower in fetuses with trisomy 21[ 47 ]. Roberts DJ, Genest D. P The presence of soft markers increases the risk for fetal aneuploidy but is not diagnostic. A recent retrospective study reviewed the ultrasound findings of 25, mainly low-risk, unselected women and found cases of pyelectasis with an incidence of Soft markers fetus. A thickened nuchal fold significantly increases the risk of fetal aneuploidy. Comprehensive scan calculation; detail Clinodactyly II-2, A 5. Ultrasound Obstet Gynecol ;16 5 —6. For a soft marker to be of significance, there needs to be other risk factors present such asolder maternal age over 35, family Soft markers fetus of chromosome disorders, and abnormal proteins on blood testing. Chromosomal abnormalities The main part of fetal malformations Bank horseback outer riding related to chromosomal abnormalities that occur in 0. Support Center Support Center. The purpose of this guideline is to 1 evaluate the usefulness of each ultrasound soft marker, 2 assess whether a specific soft marker should be looked for routinely on screening ultrasound, 3 review potential nonkaryotypic implications for soft markers, 4 suggest follow-up recommendations to deal with soft markers once detected, and 5 provide assessment of the quality of information regarding each marker. Can Med J ; 4 — These latter markers Soft markers fetus nonspecific, often transient, and can be readily detected during the Soft markers fetus ultrasound.
Many are transient.
- Soft markers are signs that a fetus may have a chance of having Down syndrome.
Use the link below to share a full-text version of this article with your friends and colleagues. Prevalence of soft markers, likelihood ratio for trisomies and risk ratio for invasive tests after detection of soft markers.
Markers were detected in 5. The risk ratio for invasive testing after the second trimester ultrasound was The likelihood ratio for Down syndrome was significant only for any marker isolated, multiple or combined with anomaly.
The presence of soft markers increased the incidence of invasive procedures substantially. Soft markers should be noted when information on second trimester ultrasound is formulated, and all units performing fetal ultrasound examinations should have established routines concerning information management when soft markers are identified.
Key Message Soft markers must be dealt with when information on second trimester ultrasound is formulated. Some sonographic findings are structural signs with little or no pathological significance. Fetal aneuploidy is confirmed through invasive tests, such as chorionic villus sampling or amniocentesis.
Therefore, many women choose to abstain from having such tests. The first trimester combined ultrasound and biochemical test CUB , which is widely used, is robust and has a high detection rate concerning fetal trisomies 5. On the other hand, the risk calculation for DS based on sonographic soft markers found in the second trimester varies significantly among studies and populations.
When soft markers are detected during a second trimester ultrasound, the finding can raise new questions about invasive diagnostic testing. In Sweden, all pregnant women are offered at least one screening ultrasound, which includes a fetal anomaly scan. Several studies have shown that women perceive the finding of soft markers as traumatic, resulting in prolonged feelings of anxiety for many women 16 - There are no uniform recommendations regarding when to disregard these markers and opinions diverge on how caregivers should handle the disclosure of isolated soft markers to the parents to be 12 , The uncertainty about this issue has led to counseling dilemmas and a wide variation in management 1.
Secondary aims were to estimate the association between the soft markers and trisomies 13, 18 and 21 as well as the effect on the number of invasive tests performed. The Fetal Medicine Center at the hospital performs all ultrasound screening examinations within the county.
These guidelines are consistent with the recommendations later issued by the International Society of Ultrasound in Obstetrics and Gynecology Ultrasonographic markers were considered isolated when not associated with other markers or structural anomalies. Other possible soft markers such as absent nasal bone and single umbilical artery were not included since they were not part of the routine second trimester scan at the unit.
Ventricomegaly was defined as a structural abnormality. Short femur and humerus were routinely measured but not included in the study because of the variation in definitions 21 , A few of the women came later because they had initially declined consultation but subsequently changed their minds. If the specialist confirmed the finding, information was provided concerning the risk increase for fetal trisomies.
For women who had previously undergone a first trimester DS screening, a reassessment was done based on the risk estimate from the CUB test and the likelihood ratio figure in question. All the women were allowed to have an invasive test irrespective of the estimated risk. Diagnostic tests following the second trimester ultrasound were performed by amniocentesis. Fluorescence in situ hybridization was the standard laboratory procedure for the analysis of sex chromosomes and chromosomes 13, 18 and Ultrasound findings were registered in the women's medical records, and cases with soft markers were documented and compiled in a local database at the fetal medicine unit.
Fetuses and infants with DS were diagnosed via the Department of Clinical Genetics at Uppsala University Hospital, where all chromosomal analyses in the county are performed. Women giving birth outside the county were followed up through the National Birth Defect Register. Within this group, 13 cases of DS, three of trisomy 13, one of trisomy 18, one Klinefelter syndrome, one Turner syndrome and one case of triple X syndrome were identified.
All pregnancies with trisomies were terminated. Second trimester biochemistry tests for fetal chromosomal abnormalities were not performed during the study period. Soft markers were detected in 5. In one twin pregnancy, isolated markers were detected in both fetuses.
EIF was found in 3. The corresponding figures for CPC were 2. The total incidence of trisomy 21, including the number of cases detected in the first trimester, was 0.
Trisomy 18 was diagnosed in four cases; all had multiple anomalies and one also had CPC. No cases of trisomy 13 were diagnosed. In the four cases with isolated soft markers, where DS was subsequently diagnosed, three women had chosen invasive testing. Two women decided to terminate their pregnancy and one woman with a twin pregnancy decided to continue her pregnancy. There were also seven women below age 35 with DS fetuses without markers and one of them had a structural anomaly detected at the second trimester ultrasound.
The incidence of invasive tests for aneuploidy after the second trimester ultrasound was The corresponding figure for pregnancies with multiple markers was No incidents of premature rupture of membranes or miscarriages related to the invasive tests were recorded. The background incidence for invasive tests in women above 35 is estimated to be Soft markers were found in 5.
The prevalence of pyelectasis varies from 0. As expected, our figure, 0. Twenty cases of aneuploidy were detected and terminated before the second trimester ultrasound, whereof 15 were DS. Three cases of trisomy 18 were diagnosed after the second trimester ultrasound.
All had multiple anomalies, but only one in combination with CPC, the marker commonly associated with trisomy However, the potential risk of fetal loss related to invasive testing 3 , 6 should be taken into account when these women are counseled. Therefore, it is essential that prevailing routines at fetal medicine units provide immediate information in response to both the women's and men's questions regarding such markers in order to prevent needless anxiety when soft markers are found 14 , Such information should not only include facts about the possibility of such findings but also support individuals' understanding of risk figures and awareness of one's own personal values.
Use of a patient decision aid has been shown to enhance informed decision making both when produced as a supporting tool for one's own use or to be used during consultation with professionals Development, testing and implementation of a patient decision aid adapted to detecting soft markers are therefore highly desirable.
Professionals also need to consider the partner's role in this situation, given women's desire to have a joint responsibility in making decisions about fetal diagnostics, including the partners' specific supportive role in such stressful situations However, due to the prevailing routines at the unit, some markers, such as short femur, short humerus and absent nasal bone, were not included. It was not possible for us to retrieve the exact number of invasive tests before the second trimester ultrasound in women with fetuses without markers.
Thus, this figure is estimated to be the same in the different age groups of women with fetuses with no markers, as in women with fetuses with any marker. Since we know the age distribution of the two groups, we believe that this estimation is close to the true figure. Although likelihood ratios for DS fetuses were above one when isolated soft markers were present, the only significant likelihood ratio concerned any marker isolated, multiple or combined with anomaly.
Soft markers must be mentioned when information on second trimester ultrasound is formulated and all units performing fetal ultrasound examinations must have established routines concerning information management when soft markers are identified. We thank the midwife sonographers at the Fetal Medicine Unit at Uppsala University Hospital who conducted the ultrasound examinations on which this study is based.
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Acta Obstetricia et Gynecologica Scandinavica. Main Research Article Free Access. The authors have stated explicitly that there are no conflicts of interest in connection with this article. Tools Request permission Export citation Add to favorites Track citation. Share Give access Share full text access.
Share full text access. Please review our Terms and Conditions of Use and check box below to share full-text version of article. Design Prospective observational study. Setting Swedish University Hospital. Main outcome measures Prevalence of soft markers, likelihood ratio for trisomies and risk ratio for invasive tests after detection of soft markers. Figure 1 Open in figure viewer PowerPoint. No Down syndrome DS cases were recorded in combination with isolated choroid plexus cysts, echogenic bowel and thickened nuchal fold.
No DS cases were recorded in combination with isolated choroid plexus cysts, echogenic bowel and thickened nuchal fold. This was assumed to be the same as in cases with fetuses with any markers isolated, multiple or combined with anomaly i.
Comparisons between cases with and without markers are presented as risk ratios RR. Conclusions Although likelihood ratios for DS fetuses were above one when isolated soft markers were present, the only significant likelihood ratio concerned any marker isolated, multiple or combined with anomaly.
Acknowledgments We thank the midwife sonographers at the Fetal Medicine Unit at Uppsala University Hospital who conducted the ultrasound examinations on which this study is based. Methods of early prenatal diagnosis: a systematic review. Google Scholar. Citing Literature. Volume 93 , Issue 4 April Pages Figures References Related Information. Close Figure Viewer. Browse All Figures Return to Figure.
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For a soft marker to be of significance, there needs to be other risk factors present such asolder maternal age over 35, family history of chromosome disorders, and abnormal proteins on blood testing. While in cases of double maternal chromosome contribution, the fetus demonstrates severe asymmetrical growth restriction. Isolated fetal choroid plexus cysts: role of ultrasonography in establishment of the risk of trisomy Sonographically detected hyperechoic fetal bowel: significance and implications for pregnancy management. Periodic health examination, update: 1.
Soft markers fetus. Fetal Soft Markers in Obstetric Ultrasound - SOGC
Down Syndrome Markers: What Do They Mean for My Baby If They're Picked Up in an Ultrasound?
The risk for a baby to be affected by Down syndrome can be calculated based upon maternal age, nuchal translucency measurement and blood tests drawn from the mother at 10 to 13 weeks and again at 15 to 20 weeks into the pregnancy.
Ultrasound can be very helpful in refining the risk calculations. The list of characteristics that have been investigated includes forebrain measurement, nuchal skin fold measurement, echogenic cardiac focus, relatively short femur and short humerus, iliac wing angle, fetal foot length, ear length, examination for clinodactyly and for sandal-strap toe, assessment of the nasal bone, and assessment of various features of the heart. There are certain ultrasound abnormalities that dramatically change the risk calculation.
The posterior nuchal skin fold was the first ultrasound marker identified for Down syndrome, and remains a very important one. The posterior nuchal skin fold is the distance between the bone of the back of the head, and the overlying skin. In our review of the literature, and in our own experience, we view a posterior nuchal skin fold of greater than or equal to 5 mm at 15 to 18 weeks, and greater than or equal to 6 mm at An increased nuchal skin fold does not mean that the baby has Down syndrome or any other abnormality, but is an important risk adjuster.
For example, if mom had a risk calculation before of 1 per 1,, this would increase the chance of Down syndrome to 17 per 1,, or 1. It is important to realize that about 1 in babies will have a thickened nuchal skin fold and will not have Down syndrome.
Linear arrangement of the mitral and tricuspid valves within the heart. This is sometimes identified, but usually not until 20 or 22 weeks into the pregnancy. A linear valve arrangement flags the pregnancy for evaluation by detailed cardiac sonography echocardiography to make certain that a structural heart defect is not present.
Among babies who have linear arrangement of the tricuspid and mitral valves, but do not have a heart defect, there appears to be a markedly increased risk for Down syndrome. While the precise figure is still in question, data suggests that it increases the Down syndrome risk by a factor of 30 to Nonossified nasal bone.
If the baby shows a good profile view during the scan, then we can assess to see whether there is a solid and visible ridge of bone within the top of the nose at the to week mark.
Depending upon ethnic group, between 0. An active area of investigation within maternal-fetal medicine is to determine exactly how to incorporate this information into Down syndrome risk calculation. At the present time, we believe that a nonossified nasal bone between 15 and 22 weeks increases the Down syndrome risk by a factor of between 30 and A slight variation downward in this ratio has been found to be an important mid-range soft marker for Down syndrome, increasing the risk by a factor of 6.
For example, if mom had a 1 in 1, risk to start with, the recalculation would be 6 per 1, A humerus measurement that is slightly less than expected does not typically mean that the baby has any abnormalities, but we will look at the full body proportions of the baby. A humerus measurement that is far below the expected range, or long bones that have abnormalities in their appearance, such as in-utero fractures, can be an important sign of abnormalities of the skeletal system.
The ratio between measured and expected size of the femur bone of the upper leg is also a soft marker for Down syndrome, if it falls below a certain threshold. This calculation is done by our ultrasound computer along with the humerus calculations.
Femur length measurement less than threshold increases the risk calculation by a factor of about 2. Echogenic foci are bright reflections from the heart muscles. Many parents become concerned that this may represent a heart defect. In fact, a single echogenic focus is seen in 5 percent of all pregnancies, and does not bear any relationship with heart abnormalities of the baby.
However, it is a low-level risk adjuster for Down syndrome, increasing the risk assessment by a factor of 2. The normal amount of urine that we see within the kidneys between 15 and 22 weeks is less than 4 mm. This is an issue that generates controversy and debate whenever Maternal-Fetal Medicine specialists meet.
It is important to realize that none of the soft markers for Down syndrome are abnormalities. If we wanted to screen adults for Down syndrome without ever seeing them, we could look at a marker, such as height versus weight.
On average, Down syndrome adults are shorter and heavier than non-Down syndrome adults. So, the pound weight at this height would be a risk adjuster, increasing the chance of Down syndrome. It certainly does not mean that the individual has Down syndrome — my weight and height are 5 feet 7 inches and pounds.
Overall, about 7 percent of pregnancies will show a soft marker increasing the risk calculation for Down syndrome. About 93 percent of pregnancies will show no soft markers, and when no soft markers are seen, the Down syndrome risk calculation is lowered. We multiply the risk calculation by a factor of 0. By combining soft marker screening with amniocentesis , we can increase the Down syndrome detection rate dramatically.
It is important to recognize that each family will make an individual decision about whether to have an amniocentesis test or not. Neither our center, nor any other prenatal diagnostic center, can diagnose or exclude numeric chromosomal abnormalities, such as Down syndrome, without amniocentesis or CVS testing.
Some families want to know for sure, and, therefore, will choose to have an amniocentesis or CVS, without going through any risk calculations. Other families will decide in advance that they would not wish to have an amniocentesis or CVS test regardless of risk calculation. In the s, amniocentesis was offered to women over 35, carried a 1 in risk of triggering miscarriage, and in order to detect only about 30 percent of Down syndrome pregnancies, we would have had to perform amniocentesis for 10 percent to 12 percent of all pregnant women.
Today, with a combination of integrated screening and soft marker screening, if 5 percent of women opt for amniocentesis, we believe that we can detect about 92 percent of cases of Down syndrome. Our center is at the forefront of investigating newer technologies that we hope will refine the screening even further. Skip to content.
Our Services. Soft Marker Screening for Down Syndrome The risk for a baby to be affected by Down syndrome can be calculated based upon maternal age, nuchal translucency measurement and blood tests drawn from the mother at 10 to 13 weeks and again at 15 to 20 weeks into the pregnancy. High-Level Markers The posterior nuchal skin fold was the first ultrasound marker identified for Down syndrome, and remains a very important one.
Low-Level Markers The ratio between measured and expected size of the femur bone of the upper leg is also a soft marker for Down syndrome, if it falls below a certain threshold. Soft Markers and Risk Assessment It is important to realize that none of the soft markers for Down syndrome are abnormalities. A good example of this is the following: If we wanted to screen adults for Down syndrome without ever seeing them, we could look at a marker, such as height versus weight.
Soft Marker Screening Plus Testing By combining soft marker screening with amniocentesis , we can increase the Down syndrome detection rate dramatically.