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

Cai, Meiying; Lin, Ning; Fu, Meimei; Guo, Nan; Xu, Liangpu; Huang, Hailong

doi:10.1186/s12920-021-00870-w

Cited by 16 publications

(11 citation statements)

References 24 publications

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“…Previous research showed a small but not statistically signi cant increase in the probability of clinically relevant CNVs in fetuses with one or more ultrasound soft markers 20 . Consistent with our results, there was no statistically signi cant difference in the incidence of clinically relevant submicroscopic CNVs between fetuses with one or more ultrasound soft markers and fetuses with multiple ultrasound soft markers (3.10% vs. 4.29%, P = 0.853).…”

Section: Discussionmentioning

confidence: 83%

Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies

Li,

Hu,

et al. 2024

Preprint

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With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the population of high-risk pregnancies is gradually increasing. In this study, 4,211 pregnant women who underwent chromosomal microarray analysis(CMA) for high-risk indications were analyzed. The results showed that the overall prenatal detection rate of CMA was 11.4%(480/4211), among which the abnormal chromosome number was 5.82%(245/4211), copy number variants༈CNVs༉was 5.58%༈235/4211༉. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 3.78% (235/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rate of abnormal chromosomes for pregnant women with AMA was 6.42%༈30/467༉, 6.01%༈50/832༉with high-risk MSS, 39.09%༈224/573༉with high-risk NIPT, 9.21%༈127/1379༉with abnormal ultrasound, and 5.1%༈49/960༉ with other indications. During follow-up, of the 4211 fetuses, 3677 fetuses (3677/4211,87.32%) were normal after birth, 462 fetuses (462/4211,10.97%) were terminated pregnancy, 51 (51/4211,1.21%) fetuses were abnormal after birth, and 21 (21/4211,0.50%) fetuses refused follow-up. These findings indicate that the diagnostic rate of CMA varies significantly among different indications, and can serve as a guide for clinicians to evaluate the application range of CMA technology in prenatal diagnosis.

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Section: Discussionmentioning

confidence: 83%

Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies

Li,

Hu,

et al. 2024

Preprint

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“…Table 1 summarizes information on the 7 studies included in the current study. 12 13 14 15 16 17 18 Cai et al 12 evaluated the genetic abnormalities of fetuses with CPC using SNP array results. They reported that isolated CPC with normal karyotype was associated with pathogenic CNVs in about 3.9% of cases.…”

Section: Resultsmentioning

confidence: 99%

Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence

Kim,

Jung,

et al. 2024

J Korean Med Sci

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Background Ultrasonographic soft markers are normal variants, rather than fetal abnormalities, and guidelines recommend a detailed survey of fetal anatomy to determine the necessity of antenatal karyotyping. Anecdotal reports have described cases with ultrasonographic soft markers in which chromosomal microarray analysis (CMA) revealed pathogenic copy number variants (CNVs) despite normal results on conventional karyotyping, but CMA for ultrasonographic soft markers remains a matter of debate. In this systematic review, we evaluated the clinical significance of CMA for pregnancies with isolated ultrasonographic soft markers and a normal fetal karyotype. Methods An electronic search was conducted by an experienced librarian through the MEDLINE, Embase, and Cochrane CENTRAL databases. We reviewed 3,338 articles (3,325 identified by database searching and 13 by a hand search) about isolated ultrasonographic soft markers, and seven ultrasonographic markers (choroid plexus cysts, echogenic bowel, echogenic intracardiac focus, hypoplastic nasal bone, short femur [SF], single umbilical artery, and urinary tract dilatation) were included for this study. Results Seven eligible articles were included in the final review. Pathogenic or likely pathogenic CNVs were found in fetuses with isolated ultrasonographic soft markers and a normal karyotype. The overall prevalence of pathogenic or likely pathogenic CNVs was 2.0% (41 of 2,048). The diagnostic yield of CMA was highest in fetuses with isolated SF (9 of 225, 3.9%). Conclusion CMA could aid in risk assessment and pregnancy counseling in pregnancies where the fetus has isolated ultrasonographic soft markers along with a normal karyotype.

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“…Ultrasonography is effective in detecting structural abnormalities in all fetal systems (3) and has the advantages of being noninvasive, accurate, and rapid. Studies have shown that abnormalities in fetal ultrasound structures and/or the presence of soft markers are directly related to aneuploidies (4,5), with the aneuploidy risk increasing with the number of ultrasound structural abnormalities (6). Proper ultrasound performed during any stage of a pregnancy allows for the early detection of fetal structural abnormalities and the assessment of a patient's risk of carrying a fetus with a chromosomal disorder.…”

Section: Original Articlementioning

confidence: 99%

Application of ultrasound combined with noninvasive prenatal testing in prenatal testing

Liu¹,

Zhou²,

Liu³

et al. 2022

Transl Pediatr

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Background: Both noninvasive prenatal testing (NIPT) and prenatal ultrasound are widely used in clinical settings due to their safety, noninvasiveness, and accuracy, showing high detection rates for fetal chromosomal aneuploidies and structural abnormalities. However, whether the combined application of these two techniques has higher clinical applicability remains to be demonstrated. Methods:The clinical and laboratory data of 3,050 pregnant women who underwent NIPT were collected.The clinical feasibility and health economics of NIPT were investigated by analyzing the accuracy, postnatal follow-up results, and population applicability of NIPT. In addition, an analysis ultrasonography, NIPT, and karyotyping results were performed to evaluate the combined application of ultrasonography and NIPT in screening fetal chromosomal abnormalities.Results: NIPT could accurately detect trisomies 21, 18, and 13, and was highly sensitive and specific in detecting other autosomal and sex chromosomal aneuploidies. The positive rates of chromosomal abnormalities in the presence of 1 or 2 or more ultrasound markers were 7.5% and 29.2%, respectively, indicating that ultrasonography combined with NIPT should be preferred for the detection of fetal chromosomal abnormalities.Conclusions: Health economic analysis revealed NIPT to be superior to conventional serologic screening in terms of accuracy and socioeconomics. Ultrasound and NIPT are complementary to each other and the combined techniques can improve the screening ability of fetal chromosomal abnormalities and provide clinicians with more diagnostic information.

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

Cited by 16 publications

References 24 publications

Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies

Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies

Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence

Application of ultrasound combined with noninvasive prenatal testing in prenatal testing

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