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Ultrasound in Obstetrics & Gynecology :... Mar 2013To summarize by meta-analysis the accumulated data on the screening performance of second-trimester sonographic markers for fetal trisomy 21. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To summarize by meta-analysis the accumulated data on the screening performance of second-trimester sonographic markers for fetal trisomy 21.
METHODS
We conducted a literature search to identify studies between 1995 and September 2012 that provided data on the incidence of sonographic markers in trisomy 21 and euploid fetuses at 14-24 weeks' gestation. Weighted independent estimates of detection rate, false-positive rate and positive and negative likelihood ratios (LR) of markers were calculated.
RESULTS
A total of 48 studies was included in the analysis. The pooled estimates of positive and negative LR were, respectively: 5.83 (95% CI, 5.02-6.77) and 0.80 (95% CI, 0.75-0.86) for intracardiac echogenic focus; 27.52 (95% CI, 13.61-55.68) and 0.94 (95% CI, 0.91-0.98) for ventriculomegaly; 23.30 (95% CI, 14.35-37.83) and 0.80 (95% CI, 0.74-0.85) for increased nuchal fold; 11.44 (95% CI, 9.05-14.47) and 0.90 (95% CI, 0.86-0.94) for hyperechogenic bowel; 7.63 (95% CI, 6.11-9.51) and 0.92 (95% CI, 0.89-0.96) for mild hydronephrosis; 3.72 (95% CI, 2.79-4.97) and 0.80 (95% CI, 0.73-0.88) for short femur; 4.81 (95% CI, 3.49-6.62) and 0.74 (95% CI, 0.63-0.88) for short humerus; 21.48 (95% CI, 11.48-40.19) and 0.71 (95% CI, 0.57-0.88) for aberrant right subclavian artery (ARSA); and 23.27 (95% CI, 14.23-38.06) and 0.46 (95% CI, 0.36-0.58) for absent or hypoplastic nasal bone. The combined negative LR, obtained by multiplying the values of individual markers, was 0.13 (95% CI, 0.05-0.29) when short femur but not short humerus was included and 0.12 (95% CI, 0.06-0.29) when short humerus but not short femur was included.
CONCLUSION
The presence of sonographic markers increases, and absence of such markers decreases, the risk for trisomy 21. In the case of most isolated markers there is only a small effect on modifying the pre-test odds for trisomy 21, but with ventriculomegaly, nuchal fold thickness and ARSA there is a 3-4-fold increase in risk and with hypoplastic nasal bone a 6-7-fold increase.
Topics: Down Syndrome; Female; Humans; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Risk Factors; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 23208748
DOI: 10.1002/uog.12364 -
Prenatal Diagnosis Feb 2023There is a paucity of knowledge regarding the prenatal presentation of Klinefelter syndrome, or 47, XXY. Accurate prenatal counseling is critical and in utero diagnosis... (Review)
Review
OBJECTIVE
There is a paucity of knowledge regarding the prenatal presentation of Klinefelter syndrome, or 47, XXY. Accurate prenatal counseling is critical and in utero diagnosis is currently limited by a poor understanding of the prenatal phenotype of this condition.
METHODS
This is a case series of fetuses with cytogenetically confirmed 47, XXY in the prenatal period or up to age 5 years, with prenatal records available for review from four academic institutions between 2006 and 2019. Ultrasound reports were reviewed in detail to assess for increased nuchal translucency and structural abnormalities. Additionally, we reviewed results of cell-free DNA and serum analyte testing when performed to inform our understanding of the detection of fetal 47, XXY through standard genetic screening tests.
RESULTS
Forty-one cases with confirmed cytogenetic diagnosis of 47, XXY and prenatal records available for review were identified: 37 had a prenatal diagnosis and 4 had a postnatal diagnosis. Nuchal translucency was increased ≥3.0 mm in 23.1% (6/26) of cases with a documented measurement. In 29.2% (7/24) of cases with a second trimester anatomical ultrasound available for review, a fetal abnormality was identified (3 brain anomalies, 1 cardiac abnormality, 1 echogenic bowel, and 2 limb abnormalities). Among those who had cell-free DNA and serum analytes performed, 92.6% (25/27) and 36.3% (4/11) had an abnormal result respectively.
CONCLUSION
This case series expands our knowledge of the prenatal presentation of 47, XXY by identifying first and second trimester fetal sonographic abnormalities. Prenatal identification of this condition enables accurate counseling, focused prenatal management, and early postnatal interventions to ameliorate some of the known complications.
Topics: Pregnancy; Female; Humans; Klinefelter Syndrome; Prenatal Diagnosis; Ultrasonography, Prenatal; Nuchal Translucency Measurement; Phenotype; Cell-Free Nucleic Acids
PubMed: 34874073
DOI: 10.1002/pd.6071 -
Ultrasound (Leeds, England) Feb 2024Saving Babies' Lives Care Bundle Version 2 highlights the importance of correct identification and reporting of echogenic bowel to improve maternal and newborn outcomes....
INTRODUCTION
Saving Babies' Lives Care Bundle Version 2 highlights the importance of correct identification and reporting of echogenic bowel to improve maternal and newborn outcomes. Yet there is no national consensus to guide sonographers in identifying and reporting fetal echogenic bowel. This two-phase study aims to develop a national consensus to guide sonographers on the identification, classification and reporting of fetal echogenic bowel during the Fetal Anomaly Screening Programme (FASP) second trimester anomaly scan. Phase 1 results are presented capturing the national current practice of sonographers in its identification.
METHODS
An online questionnaire survey was deployed to capture numerical and free text data. Data analysis was by descriptive statistics. Participants were recruited via social media and through professional networks and organisations.
RESULTS
A total of 95 participants completed the questionnaire during an 11-week period. Common practice across England included sonographers using a subjective method for identifying fetal echogenic bowel and making comparisons to fetal bone. However, there was wide variance in the fetal bone used and the transducer frequency typically used to assess bowel echogenicity. Confirmation of echogenic bowel was made at the 20-week scan in 58% of cases, 32% following fetal medicine department review with the remaining 10% unsure when confirmation occurred.
CONCLUSION
While there is common practice in identifying and report echogenic fetal bowel in some areas, there remains disparity within sonographer practice in England's national screening service. This study allowed baseline data to be collated, providing the first steps towards development of guidance for sonographers in identifying and reporting this appearance.
PubMed: 38314020
DOI: 10.1177/1742271X231164951 -
Ultrasound (Leeds, England) Nov 2022Appendicitis is a common cause for emergency operations in the western part of the world, mostly affecting children and young adults. Ultrasound in well-trained hands is...
INTRODUCTION
Appendicitis is a common cause for emergency operations in the western part of the world, mostly affecting children and young adults. Ultrasound in well-trained hands is an effective imaging tool in making this diagnosis; however, this does not come without its challenges and potential complications.
CASE REPORT
This is a case of a 19-year-old male with one-day history of severe pain in the right iliac fossa; blood results showed raised inflammatory markers. Ultrasound revealed a large abnormal loop of bowel containing heterogeneously echogenic contents, and two large appendicoliths at the base and fundus, with the presence of free fluid in the right iliac fossa and oedema in the adjacent mesentery. Laparoscopic appendectomy confirmed the presence of severe appendicitis with generalised peritonitis and appendicolith. Histology revealed gangrenous appendicitis with perforation in two places.
DISCUSSION
This case demonstrates that making a diagnosis of an inflamed appendix alone on ultrasound is not enough, and conducting a detailed assessment of the inflamed appendix and its surrounding anatomy is essential so that all the associated findings can be reported to aid in the patient management, reduce hospital stay and improve overall diagnosis and prognosis.
PubMed: 36969532
DOI: 10.1177/1742271X221093727 -
Global Pediatric Health 2022A 3.5-kilogram infant was born at 40 weeks gestation with an uncomplicated delivery. Prenatal ultrasounds showed echogenic bowel and a ventricular septal defect (VSD),...
A 3.5-kilogram infant was born at 40 weeks gestation with an uncomplicated delivery. Prenatal ultrasounds showed echogenic bowel and a ventricular septal defect (VSD), of no clinical significance. Abdominal radiographs showed pneumatosis at 21, 36, and 48 hours of life (HOL). She was treated for necrotizing enterocolitis (NEC) with intravenous antibiotics and parenteral nutrition for 7 days, before working up on feeds and discharging home with breast milk. The only prenatal finding in this case was hyperechogenic bowel, which is a soft marker and often disregarded in the absence of other signs. Chronic intrauterine gut ischemia can cause hyperechogenicity of the bowel. That same intrauterine gut ischemia may have been responsible for NEC in our patient. If a patient has persistent echogenic bowel on prenatal imaging, a critical need exists to make sure NEC is not present.
PubMed: 36518587
DOI: 10.1177/2333794X221142431 -
Pediatric Radiology Jan 2009In large-bowel intussusceptions, several US signs are known to indicate a lower likelihood of reducibility by enema. US can demonstrate echogenic dots or lines (foci) in...
BACKGROUND
In large-bowel intussusceptions, several US signs are known to indicate a lower likelihood of reducibility by enema. US can demonstrate echogenic dots or lines (foci) in the bowel wall, which might indicate an ischemic bowel.
OBJECTIVE
To determine the presence of echogenic intramural and subserosal foci in large-bowel intussusceptions and to evaluate the degree of correlation with reducibility.
MATERIALS AND METHODS
Between 2001 and 2008, 74 consecutive US examinations were retrospectively evaluated by two pediatric radiologists for intramural and subserosal echogenic foci, or trapped gas, in the intussusception. The degree of correlation between the sonographic findings and reducibility was evaluated.
RESULTS
Of 73 intussusceptions examined by US, 56 (76%) were reducible and 17 (23%) were not reducible. Out of 10 intussusceptions with intramural gas, 11 with subserosal gas, and 14 with intramural and subserosal gas, 8 (80%), 6 (56%), 9 (64%), respectively, were not reducible. The presence of intramural gas or subserosal gas or both predicted a lower chance of reduction, but with regard to the effect of these findings together, intramural gas was the only significant predictor.
CONCLUSION
Having intramural gas in large-bowel intussusception significantly decreases the chance of reduction.
Topics: Child; Child, Preschool; Contrast Media; Female; Humans; Infant; Intestine, Large; Intussusception; Logistic Models; Male; Predictive Value of Tests; Retrospective Studies; Ultrasonography
PubMed: 18982323
DOI: 10.1007/s00247-008-1039-y -
World Journal of Radiology Oct 2013Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations... (Review)
Review
Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a "genetic sonogram", including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down's syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.).
PubMed: 24179631
DOI: 10.4329/wjr.v5.i10.356 -
Journal of Perinatal Medicine Mar 2016Mid 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... (Review)
Review
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.
Topics: Brain Diseases; Cardiomegaly; Choroid Plexus; Clubfoot; Congenital Abnormalities; Cysts; Echocardiography; Echogenic Bowel; Evidence-Based Medicine; Female; Humans; Infant, Newborn; Male; Polydactyly; Pregnancy; Pregnancy Trimester, Second; Pyelectasis; Single Umbilical Artery; Ultrasonography, Prenatal
PubMed: 26506099
DOI: 10.1515/jpm-2015-0223