Soft Markers Research Articles

Neonatal Outcomes in Fetuses With a Persistent Intrahepatic Right Umbilical Vein.

A fetal persistent intrahepatic right umbilical vein has been linked to anomalies and genetic disorders but can be a normal variant. We conducted a retrospective review to determine other sonographic findings that can stratify fetuses for further evaluation. A total of 313 fetuses had a persistent intrahepatic right umbilical vein identified on 17- to 24-week sonography. The outcome was any major congenital anomaly or an adverse neonatal outcome, which was defined as aneuploidy, fetal demise, or neonatal death. A total of 217 patients (69.3%) had a normal neonatal outcome. Sixty-nine patients (22.0%) were lost to follow-up. Five fetuses (2.1%) had aneuploidy; 4 of the 5 had additional sonographic findings, and 1 had an isolated persistent intrahepatic right umbilical vein. Twenty-four fetuses had a major anomaly in association with the persistent right umbilical vein; 26 additional fetuses had soft sonographic markers associated with karyotypic abnormalities but were chromosomally normal. Of those with adverse neonatal outcomes, 12 had a congenital heart defect (57%). An additional sonographic finding with a persistent intrahepatic right umbilical vein was predictive of a congenital anomaly or an adverse neonatal outcome (P < .001), with a positive predictive value of 44.0% (95% confidence interval, 30.0%-58.7%). An isolated persistent intrahepatic right umbilical vein had a 0.4% risk for a congenital anomaly or an adverse neonatal outcome. A persistent intrahepatic right umbilical vein should prompt an extended anatomic survey and a fetal cardiac evaluation. If the survey and cardiac anatomy are reassuring, no further follow-up is needed. If additional findings are identified, genetic counseling and invasive testing should be considered.

P11.06: Abnormal liver echogenicity as a new second trimester ultrasound soft marker for Down's syndrome

P11.06: Abnormal liver echogenicity as a new second trimester ultrasound soft marker for Down's syndrome

Measurment and evaluation of fetal fat layer in the predication of Macrosomia in pregnancies complicated with gestational Diabetes

Objectives: To explore the addition of fetal fat layer as a soft tissue marker to the biometric values (biparietal diamter, abdomen circumference and femur length) with close monitoring of the blood sugar level of the pregnant women with GDM and BMI changes during the 31, 34 and 37 gestational weeks to improve the detection of macrosomia.

TUNNEL POSITIONING IN REMNANT SPARING DOUBLE BUNDLE ACL RECONSTRUCTION — A 2-YEAR STUDY OF MRI TUNNEL POSITIONS, CLINICAL OUTCOMES AND TUNNEL CONFLUENCE

Purpose: The purpose of this study is to examine the outcomes of a cohort of patients who have undergone a new surgical technique for anterior cruciate ligament (ACL) tunnel targeting using the footprint of the torn ACL as soft tissue markers. This is in the setting of anatomical ACLR with remnant preservation. Methods: This retrospective single center cohort study was conducted on patients undergoing a primary ACLR between August 2008 and February 2013. A total of 103 patients underwent ACLR with a remnant sparing technique with non-radiological soft tissue targeting of femoral and tibial tunnels. Exclusion criteria included skeletal immaturity, concomitant meniscal repair or ligament surgery, knee malalignment, delayed presentation ([Formula: see text]6 months post injury) and incomplete medical insurance. At 2 years all patients had gadolinium MRI scan, plain film X-ray, and a clinical assessment including KT-1000 arthrometry, and the following outcome scores; Tegner, IKDC (subjective/objective), Lysholm, Cincinnati and ACL Quality of Life. Results: A total of 44 patients (18 males, 26 females; mean age 30.9 years [Formula: see text]/[Formula: see text]11.8) were enrolled within the study. About 93.2% of the participants achieved an IKDC objective rating of A or B. The mean scores for outcome measures were; IKDC Subjective (84.9[Formula: see text][Formula: see text]/[Formula: see text][Formula: see text]11), Tegner (6.1[Formula: see text][Formula: see text]/[Formula: see text][Formula: see text]2), Lysholm (87.2[Formula: see text][Formula: see text]/[Formula: see text][Formula: see text]11.3), Cincinnati (358.1[Formula: see text][Formula: see text]/[Formula: see text][Formula: see text]40.8) and ACL Quality of Life (75.4[Formula: see text][Formula: see text]/[Formula: see text][Formula: see text]19). There were no graft failures at follow up. No patients had a loss of full extension [Formula: see text]. All tunnels were positioned satisfactorily. Almost half of all femoral tunnels (47.8%) and 30.4% of tibial tunnels were confluent at the joint surface. Conclusions: This series demonstrates that anatomical double tunnel ACLR using non-radiological guided remnant retention technique, provides satisfactory 2-year clinical outcomes and is a safe and effective option. Targeting tunnels to be within the native remnant leads to high rates of tunnel confluence.

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

We sought to investigate the utility of chromosomal microarray analysis (CMA) for prenatal diagnosis of oral clefts, as compared with traditional chromosome analysis, for improved prenatal genetic counseling and discovery of a potential correlation between genotype and oral cleft. This retrospective analysis encompassed 270 prenatal oral cleft cases with documented detailed ultrasound findings and CMA results from four referral centers. Detection rates for pathogenic copy-number variants (CNVs) were calculated and compared with cases for which chromosome analysis was also performed. The overall detection rate was 14.8% (40/270) for pathogenic CNVs by CMA, 7.2% (9/125) for the nonsyndromic cases, and 21.4% (31/145) for the syndromic cases. Of the nonsyndromic cases with ultrasound soft markers, 20% (5/25) were identified with pathogenic CNVs. CMA showed an improved detection rate of 15.3% (29/190) compared with 10.5% (20/190) for chromosome analysis. This study not only highlights the improved detection of chromosomal defects by CMA in prenatal oral clefts but also deepens our understanding of oral clefts. The results suggest that CMA is highly recommended in prenatal invasive genetic testing not only for syndromic oral cleft cases but also for nonsyndromic cases with soft markers. Candidate genes including CRKL, AKAP8, SYDE1, BRD4 are worthy of further investigation regarding their role in human palatogenesis.Genet Med 18 10, 1052-1055.

Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases. Of the 16 detected cases of fetal reciprocal translocation, 8 cases (50%) showed positive biochemical marker screening; 3 cases (18.75%) were the parental carriers of a chromosomal abnormality; 2 (12.5%) were of advanced maternal age, 2 (12.5%) had a previous history of children with genetic disorders, and 1 case (6.25%) was associated with positive soft markers in obstetric ultrasound. Chromosomes 5 and 19 were the most commonly involved chromosomes in balanced translocations. Of the 13 cases with fetal balanced translocations, 8 (61.5%) were inherited from a paternal chromosome, 3 (23.1%) from a maternal chromosome, and 2 (15.4%) cases were de novo. The incidence of balanced translocation at amniocentesis was 0.42%. Male carriers of reciprocal chromosome translocation appear to have a higher chance of becoming a parent of a child born by normal childbirth than female carriers.

When fetal hydronephrosis is suspected antenatally--a qualitative study.

BackgroundThe information about fetal malformation findings during the ultrasound examination often comes unexpectedly, and the women and their partners may not necessarily receive any conclusive statement on the prognosis. A finding such as fetal hydronephrosis range from being a soft markers or mild anomaly, to a serious condition associated with neonatal morbidity and mortality. The aim of this study was to explore women’s reactions to the discovery of fetal hydronephrosis in the context of uncertainty regarding the prognosis.MethodsTen women were interviewed and the interviews were conducted six to twelve months after the women gave birth. They had experience of suspected fetal hydronephrosis in gestational week 18–20. The interviews were recorded, transcribed verbatim and analysed using constant comparative analysis.ResultsThe core category, ‘Going through crisis by knowing that you are doing the right thing’ illustrates the meaning of women’s reactions and feelings. It illuminates the four categories: ‘When the unexpected happens’– on the one hand, women had positive views that the suspicious malformation could be discovered; however, on the other hand, women questioned the screening. ‘To live in suspense during pregnancy’ – the suspicious malformation caused anxiety and was a stressful situation. ‘Difficulties in understanding information’ – the women thought they had limited knowledge and had difficulties in understanding the information. ‘Suppress feelings and hope for the best’ – the women tried to postpone the problem and thought they should deal with it after delivery.ConclusionsWomen are worried irrespective of suspicious or severe malformations, and in need of information and counselling tailored to their individual needs. Other sources of support could be: written information, links to reliable sources on the Internet and possibilities for ongoing follow-ups.

New osseous soft markers for trisomy 13, 18 and 21.

For ultrasonographic diagnosis of a fetal trisomy so-called "soft markers" (=ultrasonographically detectable morphological variants) are used. Detection of a certain number of them increases the diagnostic certainty of a fetal trisomy. Up to now there are very few diagnostically accepted osseous soft markers for trisomy. Hence potential osseous soft markers applicable for first and second trimester ultrasound screening for trisomy 21, 18 or 13 were studied. Postmortal fetal X-rays (ap, lateral) of 358 fetuses (trisomy 21: n=109, trisomy 18: n=46; trisomy 13: n=38, control group: n=165). Not yet described but with trisomy 21 statistically associated soft markers were un-timely os sternale ossification, delayed os sacrum ossification, shortened os maxillare, reduced os maxillare-jaw-corner distance, augmented orbita height, premature os calcaneus ossification, bell-shaped thorax, coronal clefts, trend to wider binocular as well as wider intraocular distances; for trisomy 18: elevated clavicula slope, reduced number of ribs, bell-shaped thorax, coronal clefts, reduced os maxillare-jaw-corner distance, shortened ramus mandibulare, shortened os metacarpale IV and V, augmented ratio between biparietal diameter and (osseus and soft-tissue) shoulder width; for trisomy 13: longer os nasale, elevated clavicula slope, premature sternum, delayed os sacrum ossification, delayed/premature cranium ossification, reduced number of ribs, coronal clefts, reduced os maxillare-jaw-corner distance, shortened ramus mandibulare, augmented orbita height, shortened os metacarpale V and a tendency for a shortened os metacarpale IV. We found several not yet published osseous soft markers statistically associated with trisomy 21, 18 and 13, which can help to ensure sonographically these aneuploidy diagnoses.

Autism spectrum disorder and other behavioral diagnoses – Soft markers or soft significance of prenatal developmental drug toxicity

In this study, the methods for extraction and purification of miraculin from Synsepalum dulcificum were investigated. For extraction, the effect of different extraction buffers (phosphate buffer saline, Tris–HCl and NaCl) on the extraction efficiency of total protein was evaluated. Immobilized metal ion affinity chromatography (IMAC) with nickel-NTA was used for the purification of the extracted protein, where the influence of binding buffer pH, crude extract pH and imidazole concentration in elution buffer upon the purification performance was explored. The total amount of protein extracted from miracle fruit was found to be 4 times higher using 0.5 M NaCl as compared to Tris–HCl and phosphate buffer saline. On the other hand, the use of Tris–HCl as binding buffer gave higher purification performance than sodium phosphate and citrate-phosphate buffers in IMAC system. The optimum purification condition of miraculin using IMAC was achieved with crude extract at pH 7, Tris–HCl binding buffer at pH 7 and the use of 300 mM imidazole as elution buffer, which gave the overall yield of 80.3% and purity of 97.5%. IMAC with nickel-NTA was successfully used as a single step process for the purification of miraculin from crude extract of S. dulcificum.

Controversial ultrasound findings in mid trimester pregnancy. Evidence based approach.

Mid trimester fetal anatomy scan is a fundamental part of routine antenatal care. Some U/S soft markers or controversial U/S signs are seen during the scan and create some confusion regarding their relation to fetal chromosomal abnormalities. Example of these signs: echogenic focus in the heart, echogenic bowel, renal pyelectasis, ventriculomegaly, polydactely, club foot, choroid plexus cyst, single umbilical artery. We are presenting an evidence based approach from the literature for management of these controversial U/S signs.

Pre-Laparoscopic Ultrasound “Soft Marker” Evaluation of Ovarian Mobility in the Normal and Endometriotic Ovary

Pre-Laparoscopic Ultrasound “Soft Marker” Evaluation of Ovarian Mobility in the Normal and Endometriotic Ovary

Transvaginal Ultrasound Soft Markers for the Prediction of Endometriosis Type and Location in Women Undergoing Laparoscopy.

Transvaginal Ultrasound Soft Markers for the Prediction of Endometriosis Type and Location in Women Undergoing Laparoscopy.

OP15.02: “Soft marker” evaluation of ovarian mobility in the normal and endometriotic ovary

OP15.02: “Soft marker” evaluation of ovarian mobility in the normal and endometriotic ovary

OP15.01: Transvaginal ultrasound soft markers for the prediction of endometriosis type and location

OP15.01: Transvaginal ultrasound soft markers for the prediction of endometriosis type and location

Swedish University Students' Opinion Regarding Information About Soft Markers.

The aim of this study was to investigate the opinions of Swedish university students about information regarding soft markers, when observed at second trimester ultrasound screening. A cross-sectional survey, where 85 Swedish university students completed a study specific questionnaire containing eleven hypothetical scenarios, involving various parameters (disease/syndromes/malformations with different characteristics), and location of the markers. Almost all participants indicated that they would wish to be informed, prior to the ultrasound examination, about the assessment and significance of soft markers. However, the number of respondents who requested information about a potential actual finding was considerably less. Several participants wanted to be informed about detected markers associated to serious conditions but not when the marker indicated an increased risk for a treatable disease. Also, the specific location of the marker was of importance to the participants. The majority of respondents wished to be informed about the soft markers if they were observed in the heart or the brain of the foetus, compared to if they were located in the intestine or the skeleton. The students' opinion, in this study, implicate the importance of pre-examination information to enable expectant parents to make informed choice regarding the second trimester ultrasound screening as well as on reciving information of actual findings.

The Prognostic Scoring System Establishment and Validation for Chronic Atrial Fibrillation Patients Receiving Modified Cox-Maze IV and Concomitant Cardiac Surgery.

ObjectivesTraditional Cox maze III is the gold standard for treatment of atrial fibrillation (AF). Because of its invasiveness, it has been replaced by a simplified procedure involving radiofrequency ablation of modified Cox maze IV. Although the modified Cox maze IV has the advantages of simplicity and less morbidity, a lower rate of sinus rhythm conversion has been reported. We try to establish a scoring system to predict the outcome of this procedure.Methods and ResultsThe derivation group consisted of 287 patients with structural heart disease and chronic AF who underwent cardiac surgery and modified Cox-maze IV procedure between August 2005 and March 2013. Demographics, clinical and laboratory variables were retrospectively collected as sinus conversional predictors. Overall sinus conversion rate was 75.8%. The parameters of the Soft Markers Scoring system included AF duration, preoperative left atrial (LA) size, rheumatic pathology and postoperative LA remodeling. We compared 80 patients from another hospital between January 2004 and December 2011 as a validation group to evaluate the power of the scoring system. Soft Markers Score indicated a good discriminative power by using the areas under the receiver operating characteristic curve (AUROC: 0.759 ± 0.032). The score was further divided into three groups: low (0-2), intermediate (3-5), and high (6-10), with predicted sinus conversion rates of 92.4%, 74.2%, and 47.8%, respectively.ConclusionsIn patients with chronic AF receiving modified Cox-maze IV procedure, the Soft Markers Score demonstrated good discriminative power of predicting sinus recovery in our patients and applied well to the other validation populations.

Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies

AbstractAbsence or hypoplasia of fetal nasal bone (AHNB) in the first or second trimester scans, with increased risk for trisomy 21 has been shown in many studies. In view of reports of ethnic difference in the size of the nasal bone the usefulness of its evaluation in Indian women is desirable. All pregnant women presenting to the Genetic Clinic from Jan 2012 through April 2014 with ultrasound finding of absent or hypoplastic nasal bone, in either first or second trimester of pregnancy were prospectively enrolled in the study, after obtaining informed consent. Nasal bone hypoplasia was defined as nasal bone length less than 2.5th percentile for the period of gestation. The presence of other associated soft markers for aneuploidies along with result of biochemical screening was also recorded. All the patients were counseled for the appropriate invasive testing. Chorionic villi or amniotic fluid cells were analyzed using FISH studies for chromosome no. 13, 18, 21 and sex chromosomes and also cultured for the complete karyotype. The gestational age varied from 11 to 22 weeks, with the majority being between 17 and 20 weeks. The cohort of 92 patients was divided into five groups: Group 1: Isolated hypoplastic nasal bone with low risk in biochemical screening and no additional soft marker—30 cases (32. 6 %); Group 2: Isolated absent nasal bone—25 cases (27.1 %); Group 3: AHNB with additional ultrasound markers—29 cases (31.5 %); Group 4: Absent nasal bone (ANB) with high risk in biochemical screening with no other ultrasound abnormality—7 cases (7.6 %); and Group 5: ANB with additional ultrasound findings and abnormal biochemical screen (1 case). The karyotype in 20 (21.7 %) of 92 cases was abnormal. In group 1 three cases (10 %) had chromosomal abnormalities—47, XXX; mosaic 45, X; 47, XXY. In group 2, three (12 %) cases had trisomy 21. In group 3, 12 (41.3 %) cases had chromosomal abnormality—trisomy 21 (10), derivative 22 (1), triploidy (1). In group 4 trisomy 21was present in two (28.5 %) cases. The one patient in group 5 had a normal fetal karyotype. The present study shows that isolated absent/hypoplastic nasal bone was associated with chromosomal disease in 10–12 % of cases. However, cases where AHNB was associated with ultrasound anomalies, or with high risk biochemical studies yielded abnormal chromosomes in a significantly larger number of patients (41.4 and 28.5 % respectively). It is, therefore, recommended that this group should always be analyzed for chromosomal abnormalities. Recent studies suggest that nasal bone length may be smaller in fetuses in Indian women. If standards derived in Indian women are used, the yield of chromosomal abnormalities may be greater.

Soft markers for aneuploidy following reassuring first trimester screening: what should be done?

The present article aims to review the current role of the soft markers on the second trimester ultrasound (STUS) in women after reassuring first trimester screening (FTS) in singleton pregnancies. Improvements in the FTS and the recent implementation of noninvasive prenatal testing (NIPT) for common aneuploidies have important impact on the prevalence of these conditions in the STUS. Some studies suggest that soft markers in the second trimester of the fetus without structural anomalies have a minor or no role in Down syndrome detection in a prescreened population with reassuring results. However, NIPT could be offered as a next step in the management of such pregnancies if the calculated new composite risk (NCR) for aneuploidy is increased. In the case of reassuring results, pregnancy follow-up for certain markers is advised. NIPT has emerged as a new method of prenatal testing and is feasible in the second trimester in women with increased NCR. However, apart from the Down syndrome screening, STUS screening remains a powerful tool in screening for other fetal aneuploidies, structural anomalies and pathological placental conditions and detection of specific soft markers that require pregnancy follow-up.

Advances in ultrasound imaging for congenital malformations during early gestation.

With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. The best time for a standard complete fetal and placental scan is 18 to 20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging.

Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected?

To explore procedures for providing information, assessment and documentation about ultrasound soft markers in Sweden. Descriptive, quantitative, cross-sectional survey. Eighty-two percent of all obstetric ultrasound clinics in Sweden (covering >90% of routine fetal ultrasound examinations). Postal questionnaire survey between December 2010 and January 2011. Items about provision of information, risk estimation, and follow-up strategies in relation to observed ultrasound soft markers. More than 96% of all fetal routine ultrasound examinations were performed at 15-21 gestational weeks, primarily by midwives. Half of the clinics replying wanted prospective parents to be provided with information, but 38 (78%) of the clinics did not routinely inform about assessment of soft markers before the examination. Follow up and decisions on whether to give information when soft markers were found were based on the number and type of the observed markers, whether other structural deviations existed, and on the woman's age and anxiety level. Only at eight clinics (17%) were parents informed about all soft marker findings. At 13 clinics (28%) observed markers were documented/recorded, even though the women were not informed. Information regarding the assessment and importance of observed soft markers seems to be inconsistent and insufficient. Provision of information and documentation of findings appear to be handled differently at obstetric ultrasound clinics. This suggests that Swedish ethical principles relating to healthcare and ultrasound examinations are incompletely followed and national guidelines appear to be necessary.