Meta-analysis of validity of echogenic intracardiac foci for calculating the risk of Down syndrome in the second trimester of pregnancy

Lorente, Ana María Rubio; Moreno-Cid, María; Rodrí­guez, Marí­a José; Bueno, Gema Esteban; Tenías, José María; Román, Carmen; Arias, Ángel; Pascual, Ana

doi:10.1016/j.tjog.2016.11.002

Cited by 15 publications

(14 citation statements)

References 42 publications

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“…Thus, we calculated that the percentage of heart defects in the total population in this study was 6.25%, higher than the 0.8% observed in the general population (Prefumo et al, 2003). This was consistent with previous reports, suggests that EIFs in fetuses may be associated with the presence of heart defects (Lorente et al, 2017;Guo et al, 2018).…”

Section: Discussionsupporting

confidence: 92%

“…This result was relatively higher than expected and may be that the population underwent re-examination after birth including cases with persisted EIFs throughout the pregnancy. It is reported that 8-75% of EIFs disappear as gestation progresses (Arda et al, 2007;Lorente et al, 2017); a similar percentage was found in our study, in which 72.73% of EIFs could not be detected in re-emanations after invasive prenatal diagnosis. Thus, we calculated that the percentage of heart defects in the total population in this study was 6.25%, higher than the 0.8% observed in the general population (Prefumo et al, 2003).…”

Section: Discussionsupporting

confidence: 91%

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Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Song

et al. 2021

Front. Genet.

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Echogenic intracardiac focus (EIF) is one of the most common ultrasound soft markers (USMs) in prenatal screening. However, the association of EIF with chromosomal abnormalities is still controversial. From January 2018 to April 2020, a total of 571 fetuses with USMs in our center were enrolled, among which 150 (26.27%) presented EIFs. We analyzed the karyotype anomalies and copy number variations (CNVs) in fetuses who presented EIFs by comparing their ultrasound indications, maternal ages and gestational stages. There were no statistically significant differences in the incidence of chromosomal abnormalities between fetuses with EIFs and the fetuses with USMs (4.00 vs. 7.71%, p = 0.112). Additionally, the incidence of chromosomal abnormalities was not related to maternal age (4.10% in maternal age below 35 yeas vs. 3.57% in maternal age above 35, p = 1.000). Interestingly, after 28 weeks of gestation, fetuses with EIFs showed more chromosomal abnormalities (20.00%) than that in the group before 28 weeks of gestation (2.22%, p = 0.014), and this result was attributed to the detection of pathogenic CNVs. After birth, 25 of children conducted cardiac development re-examination. Among them, 9 (36%, 9/25) were diagnosed with congenital heart disease, primarily patent foramen oval and ventricular septal defects (7/9, 77.77%). We concluded that the appearance of EIFs in early or mid-trimester would not indicate an increased risk of fetal chromosomal abnormalities. However, the persistence of EIFs in late trimester was associated with a higher risk of pathology-related CNVs and its persistent appearance may indicate heart development defects after birth. Thus, our results suggest that CNV detection has its advantages in prenatal diagnosis, especially for those with EIFs that persist in the third trimester.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 91%

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Song

et al. 2021

Front. Genet.

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“…In this study, 65 fetuses with hyperechogenic bowel had normal karyotyping analysis results, but three fetuses with hyperechogenic bowel had abnormal CNVs. At present, many studies reported that fetuses with echogenic intracardiac focus did not have an increased risk for chromosomal abnormalities [18][19][20], but one pathogenic CNV was detected in 22 fetuses with echogenic intracardiac focus in this study. Therefore, SNP array should be considered when karyotyping analysis is carried out for fetuses with mild tricuspid regurgitation, hyperechogenic bowel, and echogenic intracardiac focus.…”

Section: Discussionmentioning

confidence: 45%

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

Cai

Lin

et al. 2021

BMC Med Genomics

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Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. Methods Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Results Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. Conclusions Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.

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“…The higher rate of invasive procedures in group 2 than in group 1 may be related to maternal anxiety. The ultrasound findings of soft markers could be wrongly evaluated as structural malformations by the mothers, which could increase the rate of invasive procedures [4,17]. Even though the mothers were informed that soft markers are seen at higher rates in fetuses with no structural abnormalities and that they are weakly related with the risk of chromosomal abnormalities, some understood this as a higher risk situation.…”

Section: Discussionmentioning

confidence: 99%

Perinatal outcome of fetuses with echogenic intracardiac focus

Özsürmeli,

Sucu,

Arslan

et al. 2020

Clin. Exp. Obstet. Gynecol.

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Objective: Echogenic intracardiac focus (EIF), a microcalcification of the papillary muscles in either or both ventricles of the fetal heart, is one of the more common ultrasonographic soft markers of trisomy 21. This study aimed to determine the relationship of EIF with trisomies in the presence of various ultrasonographic findings. Materials and Methods: A retrospective study of second-trimester obstetric sonograms (18-24 weeks) was conducted at a tertiary care center over a two-year period. The patients were divided into three groups: isolated EIF (group 1), EIF with at least one soft marker (group 2), and EIF with structural anomalies (group 3). All the groups were divided into subgroups on the basis of a screening test (maternal age ≥ 35, positive combined-triple-quadruple tests). The incidence of chromosome anomalies was evaluated. Results: The authors examined 8,300 patients during the study period and found 170 fetuses with isolated EIF (group 1), 26 fetuses with EIF and soft markers (group 2), and 37 fetuses with EIF and structural anomalies (group 3). Thirteen (8%) patients underwent fetal karyotyping in group 1, 10 (38%) in group 2, and 22 (60%) in group 3. The rate of the invasive test was higher in fetuses exhibiting EIF accompanied by at least one of the soft markers. No trisomy was detected in group 1 or 2. Conclusion:The risk of aneuploidy did not increase in either isolated EIF or in cases with other soft markers but only in cases with structural anomalies.

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Meta-analysis of validity of echogenic intracardiac foci for calculating the risk of Down syndrome in the second trimester of pregnancy

Cited by 15 publications

References 42 publications

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Application of Copy Number Variation Detection to Fetal Diagnosis of Echogenic Intracardiac Focus During Pregnancy

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

Perinatal outcome of fetuses with echogenic intracardiac focus

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