Clinical significance of sonographic soft markers: A review

Kim, Mi Sun; Kang, Suk Ho; Cho, Hee Young

doi:10.5734/jgm.2018.15.1.1

Cited by 5 publications

(5 citation statements)

References 48 publications

(100 reference statements)

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“…The highest predictive accuracy among the soft markers was of the absent nasal bone, with a positive predictive accuracy of 12.65%. Several studies have supported the relationship of absent/ ossified/ hypoplastic nasal bone with foetal aneuploidies [Kim et al 2018] since the first reported study of its association with Down syndrome by [Cicero et al 2001 The present study is based on a large sample of pregnant women with the risk of aneuploidy in a foetus who underwent prenatal screening tests at multiple centres. Being a sizeable multicentre sample, it was possible to calculate the frequency and accuracy of various prenatal diagnostic tests and extrapolate the results to the south Indian population.…”

Section: Discussionmentioning

confidence: 64%

Prenatal Screening Of Foetal Chromosomal Disorders Using Maternal Serum Biochemical Markers And Karyotyping Among Indian Population

Appavu,

Padhiar,

Nandagopal

et al. 2023

JAZ

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Background: Prenatal screening for aneuploidy during the first and second trimesters is a part of obstetric care. Because invasive procedures carry a high risk of miscarriage, these screening tests in high-risk pregnancies for aneuploidies are essential for determining the abnormality. The present study aimed to determine the predictive accuracy of prenatal screening tests and USG soft markers concerning maternal age groups, the incidence of chromosomal abnormalities, and the trends of screening tests chosen by obstetricians for women undergoing prenatal chromosome analysis prenatal screening. Methods: 2280 Pregnant women were referred for prenatal screening tests in 2019-2020 by a well-established medical diagnostic laboratory, Lifecell International Private Limited. The sample has been analyzed based on the maternal age, screening tests, clinical indicators, karyotype interpretation, and type of chromosomal abnormalities. All the data were examined with the aid of SPSS 16.0 and EXCEL. Results: 46.40% of women used TMT, 7.28% used DMT, and 3.82% used a combined first-trimester test in the present study. Positive predictive accuracy of the first trimester combined test is the highest (33.33%). Among 2280 women screened positive for aneuploidy based on different prenatal screening procedures, only 149 (6.5%) were found to have an abnormal karyotype, and the remaining 2131(93.5%) had a normal karyotype. USG marker in the absence of biochemical markers can detect considerable aneuploidy risk during the first and second trimesters. Conclusion:The present study shows that in India second trimester

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Section: Discussionmentioning

confidence: 64%

Prenatal Screening Of Foetal Chromosomal Disorders Using Maternal Serum Biochemical Markers And Karyotyping Among Indian Population

Appavu,

Padhiar,

Nandagopal

et al. 2023

JAZ

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“…In three cases of live birth, two had pre-term birth. Some studies indicated that fetuses with SUA have a higher risk of Small for Gestational Age, pre-term delivery, pregnancy-induced hypertension, admission to the neonatal intensive care unit, and perinatal mortality ( 3 ). According to a study by T. Dagklis performed on 424 fetuses with isolated SUA, no evidence of increased risk of chromosomal abnormality was observed ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

“…Although some soft markers can be occurred in a fetus as normal variants, because of increased incidence in abnormal situations such as chromosomal and congenital abnormalities and associations between some of these markers and intrauterine fetal death, pre-term birth, fetal growth restriction and congenital infection in euploid fetuses, soft markers are important ( 2 , 3 ). It is estimated that isolated soft markers occur in 11% to 17% of normal fetuses ( 4 ).…”

Section: Introductionmentioning

confidence: 99%

Outcome of fetuses with soft markers: results of 3016 cases in Ahvaz city

Masihi

Barati

Moghaddam

et al. 2021

mjiri

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“…Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no uniform recommendations regarding when to disregard or put on clinical significance in isolated soft markers (KIM et al, 2018). However, the correlation between mild fetal ventriculomegaly and chromosomal abnormalities, predominantly trisomy 21, is still a cause of debate.…”

Section: Discussionmentioning

confidence: 99%

Association between isolated mild symmetrical ventriculomegaly and fetal chromosomal aberrations

Stamenkovic

Petrović²,

Maksimović

et al. 2021

Genetika

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The identification of mild fetal ventriculomegaly prompts further evaluation focused on determining whether additional structural anomalies, genetic abnormalities or congenital infections are present. The aim of this study is to evaluate the frequency of chromosomal aberrations in fetuses with isolated mild symmetrical ventriculomegaly and determine the risk for a fetus with isolated mild ventriculomegaly to have chromosomal abnormality in a back ground. Additionally, we have performed an evaluation of the chromosomal microarray findings in a series of five fetuses with isolated mild symmetrical ventriculomegaly and a normal karyotype. The retrospective observational study included karyotype evaluation of 102 fetuses with isolated mild symmetrical ventriculomegaly identified at the time of the routine midpregnancy scanning. In five cases array-CGH was performed and the obtained data were compared with the data in the bioinformatics databases. Among fetuses with isolated mild symmetrical ventriculomegaly chromosome aberrations were found in 2 (1,96%) fetuses. In both cases autosomal aneuploidy was detected, and those are trisomy 21 and trisomy 18, respectively. The finding of a mild symmetrical isolated ventriculomegaly on the routine ultrasound fetal exam in the second trimester had low sensitivity, but high specificity and negative predictive value in the prediction of chromosome anomalies. Copy number variants (microduplications/microdeletions) were detected in four cases (80%). A search for the similar variants in NCBI ClinVar, DECIPHER, OMIM and ENSEMBL data bases, revealed that the microdeletions/microduplications detected in four fetuses in our study cannot be related with ventriculomegaly development. Our findings suggest that karyotyping is not justified in fetuses with isolated mild symmetrical ventriculomegaly (10-15 mm), in a low risk population. Therefore, when mild fetal ventriculomegaly is found in a low risk population, additional non-invasive procedures for chromosome aberration screening (such as noninvasive prenatal screening based on cell-free fetal DNA) are recommended, before making the decision to perform invasive diagnostic procedures.

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Clinical significance of sonographic soft markers: A review

Cited by 5 publications

References 48 publications

Prenatal Screening Of Foetal Chromosomal Disorders Using Maternal Serum Biochemical Markers And Karyotyping Among Indian Population

Prenatal Screening Of Foetal Chromosomal Disorders Using Maternal Serum Biochemical Markers And Karyotyping Among Indian Population

Outcome of fetuses with soft markers: results of 3016 cases in Ahvaz city

Association between isolated mild symmetrical ventriculomegaly and fetal chromosomal aberrations

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