Τετάρτη
21 Οκτωβρίου
2020

Doctor Vasiliadis

Ενδοκαρδιακές υπερηχογενείς εστίες - βιβλιογραφία

AJR Am J Roentgenol 1998 Apr;170(4):1083-4

Significance of fetal intracardiac echogenic foci in relation to trisomy 21: a prospective sonographic study of high-risk pregnant women.

Manning JE, Ragavendra N, Sayre J, Laifer-Narin SL, Melany ML, Grant EG,

Crandall BF

Department of Radiological Sciences, UCLA School of Medicine 90095-6969, USA.

OBJECTIVE: The aim of the study was to determine if an association exists between intracardiac echogenic foci in the second-trimester fetus and trisom 21. SUBJECTS AND METHODS: Over a 2-year period, targeted fetal sonography was performed for various indications in 1593 second-trimester high-risk pregnant women. Presence or absence of echogenic foci was recorded for each fetus. Amniocentesis for karyotype analysis was performed in 901 subjects immediately after sonography. The findings of these 901 subjects formed the basis of this report. RESULTS: Intracardiac echogenic foci were present in the left ventricle of 24 (3%) of the 901 fetuses. Three (13%) of these 24 fetuses had trisomy 21; no chromosomal abnormalities were found in the other 21 fetuses. Karyotype analysis revealed trisomy 21 in 14 (2%) of the remaining 877 fetuses who did not exhibit intracardiac echogenic foci. The sensitivity, specificity, positive predictive values, and negative predictive values for intracardiac echogenic foci in predicting trisomy 21 were 18%, 98%, 13%, and 98%, respectively. The association of intracardiac echogenic foci and trisomy 21 was significant (p < .009) by the two-tailed Fisher's exact test. CONCLUSION: In a high-risk obstetric population, the association between fetal intracardiac echogenic foci and trisomy 21 was statistically significant. Therefore, women carrying fetuses with intracardiac echogenic foci should be informed of the statistical association with trisomy 21.

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Obstet Gynecol 1995 Dec;86(6):998-1001

Echogenic intracardiac focus: a sonographic sign for fetal Down syndrome.

Bromley B, Lieberman E, Laboda L, Benacerraf BR

Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, USA.

OBJECTIVE: To determine whether an echogenic intracardiac focus identified in the second-trimester fetus is related to an increased risk of Down syndrome. METHODS: During a 10-month period, all women with singleton gestations who underwent second trimester genetic amniocentesis for non-imaging indications were evaluated prospectively by prenatal sonography. The presence or absence of an echogenic intracardiac focus was noted. Karyotypic information was obtained on each fetus. RESULTS: Among the 1334 patients in the study group, 66 fetuses (4.9%) had an echogenic intracardiac focus. Four of 22 fetuses (18%) with trisomy 21 had an echogenic intracardiac focus, compared with 62 (4.7%) of 1312 fetuses without Down syndrome who also had an echogenic intracardiac focus (P = .004). Sonographic identification of an echogenic intracardiac focus was associated w ith a fourfold increased risk of Down syndrome (risk ratio 4.3, 95% confidence interval 1.5 12.3). The overall prevalence of Down syndrome in our study population was 1.6%. The sensitivity, specificity, and positive predictive value for using the presence of an echogenic intracardiac focus to identify a fetus with Down syndrome was 18.2, 95.3, and 6.1%, respectively. Extrapolating to a lower risk population, the positive predictive value of an echogenic intracardiac focus for detecting Down syndrome in patients at an age-based risk of one in 250, one in 500, and one in 1000 was calculated to be 1.53, 0.77, and 0.39% respectively. CONCLUSION: Fetuses with an echogenic intracardiac focus have a significantly increased risk of Down syndrome. Although most fetuses with this finding are normal, patients carrying fetuses with an echogenic intracardiac focus should be counseled about the increased risk of trisomy 21.

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Obstet Gynecol 1997 Jun;89(6):945-8

Prenatal ultrasonographic diagnosis of fetal heart echogenic foci: no correlation with Down syndrome.

Achiron R, Lipitz S, Gabbay U, Yagel S

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel.

OBJECTIVE: To determine whether karyotype is indicated when fetal heart echogenic foci are encountered on prenatal sonogram. METHODS: Pregnant women who presented at two large district hospitals in Israel that treat 7200 gravidas per year, and in whom fetal heart echogenic foci were diagnosed, were studied prospectively. Identified cases had detailed prenatal and postnatal echocardiographic examinations, and pregnancy outcome was assessed. RESULTS: During 18 months, 2214 low-risk pregnant women were examined sonographically, and 163 (7.4%) cases of fetal heart echogenic foci were detected at the first transvaginal sonography at 13-16 weeks' gestation. On a repeat scan at 20-22 weeks' gestation, 59.5% of the foci could not be identified, leaving only 66 (3%) cases for postnatal evaluation. Left ventricle-right ventricle ratio for location of the fetal heart echogenic foci was 3:1; 4.9% of all cases had bilateral findings. The karyotypes of 16 fetuses were normal and no additional abnormalities were found. The remaining 50 cases were normal in appearance at delivery without any features that suggested trisomy 21. A review of the English language literature revealed that six of 489 cases with fetal heart echogenic foci (1.2%) had trisomy 21. However, statistical analysis of a hypothetical sample that produced these six cases revealed that the calculated risk of trisomy 21 in a fetus with fetal heart echogenic foci is about 0.002%. CONCLUSION: Karyotyping is unwarranted in the mid-trimester fetus with incidental findings of fetal heart echogenic foci.

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J Ultrasound Med 1998 Feb;17(2):127-31

Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy.

Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR

Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, USA.

Our objective was to evaluate the significance of an echogenic intracardiac focus in a mixed population of fetuses at high and low risk for aneuploidy. Over a 1 year period, we prospectively identified all fetuses with an echogenic intracardiac focus seen during prenatal sonography. A detailed structural evaluation was performed on each fetus as permitted by gestational age. The location and number of foci were tabulated prospectively, as were associated abnormalities. Follow-up was obtained by review of the medical record. Of the 290 fetuses who had an echogenic intracardiac focus, 14 of them were aneuploid (4.8%). Of the 290 mothers, 125 women were aged 35 years or older and 165 women were younger than 35 years old. Among the 125 fetuses born to women 35 years or older, eight were aneuploid fetuses (6.4%), while among the 165 fetuses of younger mothers, six were aneuploid fetuses (3.6%) (rate ratio = 1.8; 95% confidence interval [extremes] = 0.6, 4.9). Only one of the 14 aneuploid fetuses had an echogenic intracardiac focus as the only sonographic finding, and this occurred in a woman aged 41 years. The majority of the echogenic intracardiac foci (87.6%) were located in the left ventricle, while 4.8% of the foci were right-sided and 7.6% were bilateral. Among the 14 aneuploid fetuses, 14% had bilateral echogenic intracardiac foci and 7% had right-sided foci. Among the euploid fetuses, 7.3% had bilateral echogenic intracardiac foci and 4.7% had right-sided foci. In conclusion, we have shown that the presence of an echogenic intracardiac focus does raise the risk that the fetus has a chromosomal abnormality, most commonly Down syndrome, although all but one aneuploid fetus in our study had other sonographic findings.

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J Ultrasound Med 1999 Apr;18(4):265-8; quiz 269-70

Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at-risk patient population.

Vibhakar NI, Budorick NE, Scioscia AL, Harby LD, Mullen ML, Sklansky MS

Department of Radiology, University of California, San Diego, USA.

The objective of this study was to determine the relative risk for aneuploidy in the presence of a cardiac intraventricular echogenic focus in a patient population at high risk for aneuploidy. A retrospective cohort study was conducted on patients referred to a fetal diagnostic center who were undergoing amniocentesis. Records and second trimester sonograms were reviewed. Approximately 5100 comprehensive prenatal sonograms were obtained over a 2 year study period. Karyotyping by amniocentesis was done in 2412 women; 84 of the karyotypes (3.5%) were abnormal. Fetuses with no ultrasonographic findings suggestive of aneuploidy had a 1.4% (28 of 1940) prevalence of significant chromosomal abnormalities. An intraventricular echogenic focus was found in 149 of the women with karyotype analysis; 15 had an abnormal karyotype. Fetuses with intraventricular echogenic foci had a relative risk of 3.30 of aneuploidy when compared to fetuses without echogenic cardiac foci. The presence of an isolated intraventricular echogenic focus carried a relative risk of 4.08 compared to those fetuses in which ultrasonography had no finding associated with aneuploidy. In conclusion, these preliminary data indicate that presence of an intraventricular echogenic cardiac focus carries an increased risk of fetal aneuploidy.

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J Ultrasound Med 1998 Mar;17(3):141-4; quiz 145-6

Fetal intracardiac echogenic foci: does it matter which ventricle?

Wax JR, Philput C

Department of Obstetrics and Gynecology, Hartford Hospital, Connecticut 06102-5037, USA.

We sought to determine whether an association exists between the location of intracardiac echogenic foci and fetal aneuploidy or structural cardiac lesions. A search of the English language literature since 1980 revealed nine studies reporting location of intracardiac echogenic foci, fetal chromosomal abnormalities, and cardiac anomalies. Aneuploidy was noted in 10 of 217 fetuses with left ventricular and in one of 18 with right ventricular intracardiac echogenic foci. Three of 11 fetuses with biventricular intracardiac echogenic foci were aneuploid, which is significantly more frequently than when intracardiac echogenic foci were present in either ventricle alone (P = 0.02). There were nine cases of trisomy 21, four of trisomy 13, and one of trisomy 18. Structural cardiac lesions were recognized in eight of 217 fetuses with left ventricular foci, two of 18 with right ventricular foci, and one of 11 with biventricular intracardiac echogenic foci (P = 0.16). Biventricular intracardiac echogenic foci are more frequently associated with fetal aneuploidy but not structural lesions, as compared to isolated left or right ventricular intracardiac echogenic foci.

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Ultrasound Obstet Gynecol 1996 Oct;8(4):225-8

The significance of echogenic foci in the fetal heart: a prospective study of 228 cases.

Simpson JM, Cook A, Sharland G

Department of Fetal Cardiology, Guy's Hospital, London, UK.

The purpose of this study was to determine the pathological significance of echogenic foci in the heart of fetuses with no other sonographic abnormalities and in the absence of other risk factors for chromosomal abnormality. A total of 228 fetuses were identified with single or multiple echogenic foci. This represents 6.9% of the total number of fetuses scanned. The most frequent finding was a single echogenic focus in the left ventricle (n = 136; 60%) but multiple foci were observed in 33%. An echogenic focus in the right ventricle occurred in 16 cases (7%). Karyotypic abnormalities were diagnosed postnatally in two fetuses. One of these fetuses, with an echogenic focus in each ventricle, had trisomy 21, and the other, with two echogenic foci in the left ventricle, had an unbalanced translocation. The vast majority of fetuses which had echogenic foci were normal, but there was a risk of karyotypic abnormality of 1%.

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Ultrasound Obstet Gynecol 1995 Feb;5(2):92-4

Natural history of echogenic foci within ventricles of the fetal heart.

Petrikovsky BM, Challenger M, Wyse LJ

North Shore University Hospital-Cornell University Medical College, Department of Obstetrics and Gynecology, Manhasset, USA.

Echogenic foci within the fetal heart have been reported in association with cardiac tumors and chromosomal abnormalities. They have been observed also as a normal variant of cardiac development. The goal of this study was to analyze the frequency, distribution and natural history of echogenic foci within the fetal heart. A total of 1139 patients referred for targeted ultrasound were studied. Patients with positive findings (presence of the echogenic foci) were referred for serial fetal echocardiographic examinations at 26-28 weeks and 34-36 weeks of pregnancy. Neonatal follow-up examinations were performed within the first 3 months of life in 27 cases. Ventricular echogenic foci were seen in 3.6% of fetuses. The locations of the echogenic foci were as follows: left ventricle, 92.8%; right ventricle, 4.8%; both ventricles, 2.4%. All fetuses had a normal karyotype. Echogenic foci remained present in all infants who underwent echocardiographic examination within the first 3 months of life. Echogenic intracardiac foci probably represent a normal variant of the development of papillary muscles and chordae tendinae.

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Obstet Gynecol 1996 Jun;87(6):948-52

The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21.

Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School/St. Peter's Medical Center, New Brunswick, USA.

OBJECTIVE: To test the efficacy of ultrasound in detecting fetuses with trisomy 21. METHODS: From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered to all women with singleton fetuses at increased risk (at least 1:274) for trisomy 21, who had either declined genetic amniocentesis or chose to have a sonogram before deciding whether to undergo an amniocentesis. In addition to standard fetal biometry, the following ultrasound markers for aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view and outflow tracts]), short femur, short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, and two-vessel umbilical cord. Outcome information included the results of genetic amniocentesis, if performed, or the results of postnatal pediatric assessment and follow-up. RESULTS: Five hundred seventy-three patients had a genetic sonogram between 15 and 23 weeks' gestation: 378 patients had advanced maternal age (at least 35 years), 141 had abnormal serum biochemistry, and 54 had both. The majority (495, or 86.3%) had a normal genetic sonogram (absence of abnormal ultrasound markers); 51 (9%) had one marker present, and 27 (4.7%) had two or more markers present. Outcome was obtained on 422 patients (the remaining were ongoing pregnancies or were lost to follow-up). Twelve of 14 fetuses with trisomy 21, one fetus with trisomy 13, and one fetus with triploidy had two or more abnormal ultrasound markers present; one fetus with trisomy 21 had one abnormal marker and one had a completely normal ultrasound. When one or more abnormal ultrasound markers were present, the sensitivity, specificity, and positive and negative predictive values for trisomy 21 were 92.8%, 86.7%, 19.4%, and 99.7%, respectively. When two or more abnormal ultrasound markers were present, the corresponding values were 85.7%, 96.8%, 48%, and 99.5%. In the study population, the amniocentesis rate was 12.7% overall and 17.3% in cases with known outcome. CONCLUSION: Second-trimester genetic sonogram may be a reasonable alternative for patients at increased risk for fetal trisomy 21 who wish to avoid amniocentesis. In experienced hands, this approach may result in a high detection rate of trisomy 21 (93%), with an amniocentesis rate of less than 20%.

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Prenat Diagn 1996 Feb;16(2):131-5

Multiple fetal intracardiac echogenic foci: not always a benign sonographic finding.

Bronshtein M, Jakobi P, Ofir C

Al-Kol Institute, Rambam Medical Center, Rappaport Faculty of Medicine,

Technion, Israel Institute of Technology, Haifa, Israel.

Isolated left-sided echogenic foci in the fetal heart are considered as a benign condition, probably representing a normal variant of the development of papillary muscles. The objective of the present study was to evaluate the incidence and significance of multiple or diffuse echogenic foci in the fetal heart. We analysed retrospectively 25 725 ultrasound examinations conducted for fetal malformations between 12 and 24 weeks' gestation. In the study group, echogenic intracardiac foci were observed in 44 cases (0.17 per cent). In 35 fetuses, these foci were confined to the region of the papillary muscles/chordae tendinae as an isolated finding in the left side of the heart. All these fetuses had an uneventful neonatal follow-up. However, in nine of these cases, diffuse echogenic foci were demonstrated in various regions of the fetal heart, five of them with involvement of the right ventricle. In five of the nine cases, other major pathologies were found. In one case, a missed abortion occurred and in one case of early termination of pregnancy, calcifications were demonstrated in the endocardium on histological examination. Only in two of the nine fetuses was the outcome uneventful. Our findings suggest that diffuse echogenicity in the fetal heart, especially when the right ventricle is also involved, may signal a poor prognosis and deserves a further search for associated pathologies. This is in contrast to the benign character of an isolated left-sided echogenic focus.

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J Ultrasound Med 1994 Aug;13(8):613-6

Left ventricular echogenic focus in the fetal heart: pathologic correlation.

Brown DL, Roberts DJ, Miller WA

Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115.

Echogenic foci within the left ventricle of the heart have been found in a minority of fetuses and generally are believed to be a normal variant. The cause and exact location of these foci have remained speculative, however. We identified three fetuses with this sonographic finding in whom pathologic correlation was available. The only consistent histologic finding present in all three fetuses was mineralization within a papillary muscle; the chordate tendineae were normal. One of the three fetuses had trisomy 21. Echogenic foci within the left ventricle of the fetal heart represent papillary muscle mineralization. Until more data are available to investigate any possible association with aneuploidy, an echogenic focus in the left ventricle should still be considered a normal variant.

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Ultrasound Obstet Gynecol 1996 Oct;8(4):229-31

Unusual appearances of echogenic foci within the fetal heart: are they benign?

Petrikovsky B, Challenger M, Gross B

Division of Maternal Fetal Medicine, North Shore University Hospital, Manhasset, New York, USA.

Nine fetuses with unusually appearing echogenic foci were selected from a series of 65 fetuses with intracardiac echogenic foci studied at the Fetal Diagnosis and Treatment Unit from January 1994 until February 1996. An echogenic focus or foci were defined as a structure or structures within the fetal heart with echogenicity similar to or greater that that of the surrounding bone. Unusually appearing foci were defined as lesions of unusual size, shape, structure or location. Three fetuses had unusually large echogenic foci, and four had multiple foci in both ventricles. In one fetus, two echogenic foci were very close to each other, creating an impression of a 'double' focus within the left ventricle. In another fetus, three echogenic foci were detected. Follow-up protocol for fetuses with echogenic foci included comprehensive ultrasound, amniocentesis and fetal echocardiography. All studied fetuses had normal karyotype. A fetal echocardiogram failed to reveal congenital heart defects. The neonatal outcome was uneventful in seven out of nine cases; one patient decided to terminate her pregnancy for reasons unrelated to the ultrasound findings, and one delivered prematurely at 34 weeks of pregnancy. In conclusion, we failed to find any correlation between unusually appearing echogenic foci and adverse perinatal outcome.

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J Gynecol Obstet Biol Reprod (Paris) 1998 Oct;27(6):599-604

[Evaluation of the association of a serum marker and second trimester ultrasonography for the screening of trisomy 21 in women of less than 38 years. Prospective study of 5,163 patients].

Lefebvre G, Vauthier-Brouzes D, Choukroun JB, Sebagh E, Bernard M, Brochet C, Lesourd S, Darbois Y Service de Gynecologie-Obstetrique, CHU Pitie-Salpetriere, Paris.

OBJECTIVES: Use of serum markers alone for trisomy 21 screening programs leads to a high rate of amniocentesis. Adding a second parameter (ultrasonography during the second trimester) might reduce this rate yet retain satisfactory sensitivity. This work was conducted to evaluate the pertinence of associating serum hCG level between 16 and 17 weeks gestation and morphological ultrasonography between 18 ans 20 weeks gestation. METHOD: A prospective study was conducted in 5,163 pregnant women aged over 38 years. A morphological ultrasonography was performed in all patients whose hCG level > 1/150 indicated a risk. An amniocentesis was proposed if an anomaly was detected at ultrasonography. RESULTS: Serum hCG was above the risk threshold retained in 11.9% of the patients and among these patients at least one anomaly was detected at ultrasonography in 12%. An amniocentesis was performed in 1.4% of all patients. The positive predictive value of the screening test was 20%. CONCLUSION: Combining a serum marker and ultrasonography during the second trimester allows a reduction in the rate of amniocentesis compared with screening with serum markers alone. Sensitivity for detecting trisomy 21 remains satisfactory.

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Ultrasound Obstet Gynecol 1998 Jul;12(1):8-14

Age-adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases.

Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA

Center for Perinatal Studies, Swedish Hospital Medical Center, Seattle, Washington, USA.

OBJECTIVE: To describe and test a method of individual risk assessment for fetal Down's syndrome based on maternal age and second-trimester ultrasound findings. DESIGN: A case-control study of 142 fetuses with Down's syndrome was compared with 930 control fetuses with normal karyotype. All patients underwent second trimester ultrasound at a single institution with a standardized ultrasound protocol without knowledge of fetal karyotype. Age-adjusted ultrasound risk assessment (AAURA) for Down's syndrome was performed by multiplying the a priori risk, based on maternal age, with likelihood ratios resulting from the presence or absence of specific ultrasound findings for each patient. Individual ultrasound findings were assigned likelihood ratios (LR) as follows: structural abnormality (LR 25), nuchal thickening (LR 18.6), echogenic bowel (LR 5.5), shortened humerus (LR 2.5), shortened femur (LR 2.2), echogenic intracardiac focus (LR 2), and renal pyelectasis (LR 1.6). A normal ultrasound was assigned a LR of 0.4. RESULTS: One or more ultrasound markers were identified in 68.3% (97) of fetuses with Down's syndrome compared to 12.5% of fetuses with normal karyotype. Among fetuses with positive ultrasound, 31% of those with Down's syndrome and 80% of those with normal karyotype showed a single non structural finding. Using AAURA and a threshold of 1: 200, 74% (105 of 142) of fetuses with Down's syndrome were identified, including 61.5% (24 of 39) from women aged less than 35 years, 67.2% (45 of 67) from women aged 35-39 years inclusively, and 100% (36 of 36) from women aged 40 years or older. AAURA of 930 fetuses with normal karyotype showed an overall false-positive rate of 14.7%, including 4% (21 of 519) from women aged less than 35 years, 12.5% (42 of 337) from women aged 35-39 years inclusively, and 100% from women aged 40 years or older. CONCLUSIONS: AAURA permits improved individual counseling regarding the risk of fetal Down's syndrome following a second-trimester sonogram. For low-risk women under age 35 years, ultrasound assessment can identify over half of the affected fetuses with Down's syndrome with an acceptable false-positive rate (4%). For women aged 35-39 years, a normal ultrasound can substantially reduce the risk of unnecessary amniocentesis (12.5% from 100%) but will also miss approximately one-third of affected fetuses. Biochemical screening of maternal serum is also suggested for this group. Based on their high a priori risk, women aged 40 years or more should consider genetic amniocentesis regardless of a normal ultrasound.

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Br J Obstet Gynaecol 1998 Jan;105(1):63-7

The role of ultrasonographic markers for trisomy 21 in women with positive serum biochemistry.

Verdin SM, Economides DL

Obstetric and Gynaecology Department, Royal Free Hospital, London, UK.

OBJECTIVE: To assess the value of particular markers detected by second trimester ultrasound examination among those women whose fetuses were shown to be at increased risk of Down's syndrome on the basis of biochemical screening. DESIGN: A retrospective study of 459 pregnancies. SETTING: Fetal Medicine Unit, Royal Free Hospital. PARTICIPANTS: Four hundred and fifty-nine pregnant women, including four twin pregnancies, registered at the Royal Free Hospital, who were considered screen positive (risk > 1:250) based on the results of mid-trimester biochemical markers (maternal serum free beta human chorionic gonadotrophin and alpha-fetoprotein). MAIN OUTCOME MEASURES: The ultrasound markers that were examined included structural defects, shortened femur length, echogenic bowel, dilation of the renal pelvis and choroid plexus cysts. The likelihood ratios for trisomy 21 for each of these markers were calculated. RESULTS: Of the 463 fetuses which were screen positive, 449 (97%) had a normal karyotype detected by amniocentesis (n = 344) or postnatal follow up (n = 105). Fourteen fetuses had an abnormal karyotype including 11 (2.4%) with trisomy 21. Ultrasound markers were found in 9/11 (81.8%) fetuses with trisomy 21, compared with 44/449 (9.8%) with a normal karyotype. Detection of one or more ultrasonographic markers in a screen positive pregnancy increased the risk of trisomy 21 by a likelihood ratio of 8.4, and the absence of such markers decreased the risk by a likelihood ratio of 0.2. The risk was considerably increased when the presence of two or markers were detected (likelihood ratio 41). In trisomy 21 fetuses the two most commonly detected markers, shortened femur and dilation of the renal pelvis, had likelihood ratios of 49.3 and 20.5, respectively. Choroid plexus cysts were detected in 27 of the normal karyotypic fetuses compared with none of those with trisomy 21. CONCLUSION: Thepresence or a bsence of abnormal ultrasonographic markers can significantlychange the risk of Down 's syndrome among pregnant women already found to have abnormal serum biochemistry. This data may be useful in counseling such women.

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J Ultrasound Med 1992 Sep;11(9):449-58

Sonographic scoring index for prenatal detection of chromosomal abnormalities.

Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr

Department of Obstetrics & Gynecology, Brigham & Women's Hospital, Boston, Massachusetts.

Current indications for cytogenetic evaluation leave the majority of Down syndrome fetuses undetected. Using advanced maternal age and low maternal serum alpha fetoprotein (AFP) levels as criteria, only 40% of fetuses with Down syndrome (trisomy 21) are identified (positive predictive value, 0.4% to 1%). We evaluate the sonographically detectable physical features of second trimester fetuses to determine whether these features are more sensitive and specific than maternal age for detecting fetuses with abnormal karyotypes. From March 1, 1990, to September 1, 1991, more than 5,000 fetuses between 14 and 20 weeks of development were referred for genetic amniocentesis because of advanced maternal age or abnormal AFP levels. Forty-three of these 5,000 fetuses were later found to have autosomal trisomies by karyotype (32 with trisomy 21, nine with trisomy 18, and two with trisomy 13). A sample of 588 consecutive normal fetuses from the total of more than 5,000 amniocenteses performed during this period of time was used as our control group for statistical analysis. The sonographic features of these 588 normal second trimester fetuses and the 43 trisomic fetuses recorded prospectively prior to knowledge of the karyotype were evaluated statistically. The femur and humerus lengths, nuchal fold, renal pelvic dimension, and major structural defects were compared in the normal and trisomic fetuses. On the basis of our results, a weighted sonographic score was developed to optimize the detection of fetuses at risk for aneuploidy. Using our previously published formulas and criteria for a short femur and humerus, 17/32 (53%) fetuses with Down syndrome and 23/588 (3.9%) of the normal fetuses were identified. Twenty two of 32 Down syndrome fetuses (69%) and 2/588 (0.34%) of normals had a nuchal fold > or = 6 mm, and 11 of 32 Down syndrome fetuses and all those with trisomies 18 and 13 had a major anomaly detected sonographically. The following scoring system was developed for the detection of aneuploidy: nuchal fold = 2, major structural defect = 2, and short femur, short humerus, and pyelectasis = 1 each. Selecting fetuses with a score of > or = 2 would identify 26/32 (81%) Down syndrome fetuses, and 9/9 (100%) and 2/2 (100%) fetuses with trisomies 18 and 13 respectively, but only 26/588 (4.4%) of the normal fetuses. Using the sonographic score of 2 results in a positive predictive value for a 1/250 risk group of 6.87% for identifying Down syndrome fetuses and 7.25% for all three trisomies.

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Obstet Gynecol 1997 Jun;89(6):941-4

Second-trimester ultrasound markers for detection of trisomy 21: which markere are best?

Vintzileos AM, Campbell WA, Guzman ER, Smulian JC, McLean DA, Ananth CV

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School/St.Peter's Medical Center, New Brunswick, USA.

OBJECTIVE: To investigate which second-trimester ultrasound markers for aneuploidy are the most diagnostically efficient in detecting fetal trisomy 21. METHODS: All second-trimester genetic sonograms performed since November 1, 1992 for women at increased risk for fetal trisomy 21 were analyzed retrospectively. Statistical analysis included descriptive statistics, the test of proportions, and univariate and multivariable logistic regression analysis using trisomy 21 as the dependent variable and ten aneuploidy ultrasound markers as independent variables. RESULTS: There were 581 normal fetuses, 23 with trisomy 21 and four with other chromosomal abnormalities. When one or more abnormal ultrasound markers were present, the sensitivity and false-positive rate for trisomy 21 were 87% and 13.4%, respectively. After adjusting for confounders, multivariate logistic regression analysis showed the best combination of ultrasound markers for detecting trisomy 21 to be nuchal fold thickening (relative risk [RR] 85.5; 95% confidence interval [CI] 20.4, 357.7), pyelectasis (RR 25.2; 95% CI 6.7, 95.0), and short humerus (RR 20.4; 95% CI 4.5, 92.1). The model combining these three ultrasound markers yielded a sensitivity of 87% and a false-positive rate of 6.7%. CONCLUSION: By using only three ultrasound markers (combination of nuchal fold thickening, pyelectasis, and short humerus) the false-positive rate is decreased from 13.4% to 6.7% without any compromise in the sensitivity (87%). The clinical usefulness of evaluating the various second-trimester ultrasound markers needs to be evaluated in prospective studies.

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Am J Obstet Gynecol 1996 Oct;175(4 Pt 1):1008-12

Prospective evaluation of the antenatal incidence and postnatal significance of the fetal echogenic cardiac focus: a case-control study.

Dildy GA, Judd VE, Clark SL

Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, USA.

OBJECTIVE: We evaluated the antenatal incidence and postnatal significance of echogenic cardiac foci observed during antenatal ultrasonography. STUDY DESIGN: During a 4-month period, all women undergoing dating ultrasonography between 16.0 and 24.9 weeks' gestation at one referral center were prospectively evaluated for an echogenic cardiac focus during an apical four-chamber view of the heart. Referrals for maternal or fetal complications were excluded. Postnatal echocardiography was performed for those identified with positive findings. Controls were selected from among normal subjects in the general group for comparison with the study group. RESULTS: Five hundred six consecutive fetuses were evaluated at a mean +/- SD gestational age of 20.6 +/- 1.6 weeks. There were 25 (4.9%) fetuses found to have echogenic cardiac focus (left ventricle = 19, right ventricle = 6). Echocardiography was performed between 0.3 and 20.1 weeks postdelivery. After birth, 12 echogenic left ventricle papillary muscles and three echogenic left ventricle chordae were identified; there were no postnatal right ventricle findings. There were no cases of intracardiac tumor or myocardial dysfunction; one neonate had minor structural malformations. There were no significant differences in maternal age, gravidity, parity, gestational age at ultrasonography, gestational age at delivery, or 5-minute Apgar scores. A significant difference was observed in birth weight between the control (n = 50) and study (n = 25) groups (3465 +/- 501 gm vs 3124 +/- 589 gm; p = 0.002). This difference persisted after correcting for gestational age, although all infants in both groups born after 37.0 weeks weighed > 2500 gm. CONCLUSIONS: The incidence of echogenic cardiac foci during routine midtrimester ultrasonography is 4.9%. As an isolated finding, the echogenic cardiac focus may be associated with a statistically significant but clinically insignificant decrease in birth weight. Because of these findings, we consider an isolated echogenic cardiac focus in a patient at low risk for cardiac abnormalities a variant of normal, which does not warrant follow-up clinical evaluation.

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J Ultrasound Med. 2009 Dec;28(12):1639-43.

Echogenic intracardiac foci: associated with increased risk for fetal trisomy 21 or not?

Shanks AL, Odibo AO, Gray DL.

Department of Obstetrics and Gynecology, Washington University School of Medicine, Campus Box 8064, 660 S Euclid Ave, St Louis, MO 63110, USA.

OBJECTIVE: The purpose of this study was to evaluate the impact of an echogenic intracardiac focus (EIF) on the risk for fetal trisomy 21 (T21) in populations with differing prevalence of T21.METHODS: A retrospective cohort study of pregnancies presenting to our prenatal ultrasound units over 16 years (1990-2006) was conducted. Contingency table analysis of the presence of an EIF and diagnosis of fetal T21 was performed. The groups analyzed included the following: (1) all fetuses with EIF plus other sonographic markers, (2) EIF as an isolated sonographic marker, (3) those younger than 35 years with an isolated finding of EIF, and (4) a group with an isolated finding of EIF excluding those at increased risk for T21 on serum screening.RESULTS: Echogenic intracardiac foci were found in 2223 of 62,111 pregnancies (3.6%), and T21 was diagnosed in 218 pregnancies (0.4%). The presence of an EIF along with other markers was associated with a statistically significant risk for T21 (positive likelihood ratio [LR], 4.4; 95% confidence interval [CI], 3.2-6.0; P < .05). An isolated EIF was not associated with a statistically significant increased risk for T21 in patients younger than 35 years (positive LR, 1.7; 95%, CI 0.7-4.1) and those without abnormal serum screening results for aneuploidy (positive LR, 1.6; 95% CI, 0.8-3.1).CONCLUSIONS: The finding of an isolated EIF on prenatal sonography does not significantly increase the risk for fetal T21 in populations not otherwise at an increased risk for the disorder. An isolated EIF should be considered an incidental finding in patients younger than 35 years and in those without abnormal serum aneuploidy screening results.

 

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Ultrasound Obstet Gynecol. 2003 Apr;21(4):354-8.

Relationship of isolated fetal intracardiac echogenic focus to trisomy 21 at the mid-trimester sonogram in women younger than 35 years.

Anderson N, Jyoti R.

Department of Radiology, Canterbury District Health Board, Christchurch, New Zealand.

OBJECTIVE: To determine whether an isolated echogenic intracardiac focus in the fetal heart in the mid-trimester (16-24 weeks) in women aged 18-34 years of age is associated with trisomy 21. METHOD: This was a prospective population-based observational study. A search of all obstetric sonograms performed in our region from January 1997 to December 1999 was carried out. From 12,373 pregnancies we identified 267 cases of echogenic foci in the fetal heart. Trisomy 21 was detected in 38 deliveries (0.31%). An echogenic focus was seen in 193 of the 9167 women 35 years. The study group comprised the 149 women aged 18-34 years who had an echogenic focus in the fetal heart as the only abnormality at an obstetric sonogram performed at 16-24 weeks' gestation. RESULTS: There were no abnormal outcomes or cases of trisomy 21 among the 149 pregnancies with an echogenic focus as an isolated finding in women aged 18-34 years (0% (95% confidence interval, 0.00-2.43)). The prevalence of isolated echogenic focus was 1.6% for women or= 35 years old. Of the 25 fetuses with trisomy 21 undergoing an obstetric sonogram at any gestational age, five (20%) had an echogenic focus. An isolated echogenic focus was present in one fetus with trisomy 21 seen at 26 weeks' gestation in a 17-year-old mother. Echogenic foci were single and in the left ventricle in 84.7% of cases. CONCLUSION: An isolated echogenic focus in the fetal heart at mid-trimester ultrasound in women aged 18-34 years is not associated with increased risk for trisomy 21.

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Ultrasound Obstet Gynecol. 2008 Feb;31(2):132-5.

Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.

Dagklis T, Plasencia W, Maiz N, Duarte L, Nicolaides KH.

OBJECTIVES: To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS: We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minimum diameter of 1.5 mm, intracardiac echogenic focus, hydronephrosis with a minimum anteroposterior diameter of the pelvis of 1.5 mm and hyperechogenic bowel. RESULTS: The prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel was significantly higher in trisomy 21 than in normal fetuses (9.6% vs. 1.5%, 17.1% vs. 5.3% and 11.4% vs. 2.4%, respectively). There was no significant difference between the two groups in the prevalence of choroid plexus cysts (7.5% vs. 5.0%). There were no significant differences in crown-rump length or nuchal translucency thickness in either chromosomally normal or trisomy 21 fetuses between those with and those without any one of the markers. CONCLUSIONS: At 11 + 0 to 13 + 6 weeks the prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel is higher in trisomy 21 than in chromosomally normal fetuses. As there is no significant association between the presence of these markers and nuchal translucency thickness, they could be included in the assessment of risk to improve accuracy of screening.

© Δρ Θεόδωρος Ξεν. Βασιλειάδης