Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study

Ainsworth, Alessandra J.; Holman, Michelle A.; Codsi, Elisabeth; Wick, Myra J.

doi:10.1159/000484242

Cited by 6 publications

(4 citation statements)

References 13 publications

(17 reference statements)

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“…Abnormalities on ultrasound (US) are useful markers for detecting trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidy (SCA), rare autosomal trisomies (RATs), and even copy number variations, as reported previously (Beulen, Faas, Feenstra, Vugt, & Bekker, 2017; DeVore, 2000; Shaffer et al, 2012). Clinically, the cardiac, neurologic, gastrointestinal, musculoskeletal, and facial defects are the most common ultrasonographic structural abnormalities as reported previously (Ainsworth, Holman, Codsi, & Wick, 2018; Rao & Platt, 2016), and nasal bone abnormalities, nuchal fold thickening, and hyperechoic bowel are useful at a fairly high detection rate for screening fetuses with trisomy 21 (Sonek & Croom, 2014). However, reports on the quantitative contribution of ultrasound toward identifying the genotypes of NIPS false‐negative cases are still limited.…”

Section: Introductionmentioning

confidence: 54%

Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy

Zeng

Fan

et al. 2020

Molec Gen & Gen Med

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Background To evaluate the impact of ultrasonography on identifying noninvasive prenatal screening (NIPS) false‐negative aneuploidy. Methods Analysis of large population‐based NIPS false‐negative aneuploidy data comprising karyotypes, clinical outcomes, and ultrasound results. Results From December 2010 to July 2018, a total of 3,320,457 pregnancies were screened by NIPS performed in BGI; among them, 69 NIPS false‐negative aneuploidy cases with informed consent were confirmed, and ultrasound examination data for 48 cases were not available. Of the 21 cases with ultrasound results, 19 (90.5%) had various abnormalities on ultrasound, and two (9.5%) cases were shown to be normal on ultrasound. Additionally, six of seven live‐born fetuses (approximately 85.7%) were found to have abnormalities on ultrasound. Ventricular septal defects constituted the most frequently observed ultrasound abnormality type among the 21 NIPS false‐negative aneuploidy cases. Conclusion Application of NIPS has increased rapidly worldwide and now accounts for a large proportion of prenatal screening tests in China. This study suggests that ISUOG guideline should be followed practically, and structural abnormal ultrasound findings should not be neglected, even when NIPS produces a negative result. Combining NIPS with an ultrasound examination can further reduce the incidence of live births with aneuploidy.

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Section: Introductionmentioning

confidence: 54%

Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy

Zeng

Fan

et al. 2020

Molec Gen & Gen Med

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“…This suggested that CPM was sufficient to cause discordant NIPT results. Therefore, NIPT is still utilized as a screening test, and diagnostic confirmation must be performed on fetal cells from amniocentesis rather than chorionic villus sampling, in order to avoid CPM [34][35][36]. In this study, all diagnostic confirmation was derived from amniocentesis.…”

Section: Discussionmentioning

confidence: 99%

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

Shi

et al. 2021

Gynecol Obstet Invest

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Objective: This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. Methods: This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. Results: After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (n = 42), 47,XXX (n = 20), 47,XYY (n = 16), and 45,X (n = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. Conclusion: NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

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“…By accurately performing early pregnancy screening tests in the rst and second trimester, including double, triple, or quade tests and performing an ultrasound scan, the health status of the fetus can be determined to a large extent [13].…”

Section: Introductionmentioning

confidence: 99%

Investigating the relationship between thyroid hormones with the risk level screening tests in the first trimester of pregnancy in hypothyroid women: A case-control study

Rezavand,

Darvishi,

Hematti

et al. 2023

Preprint

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Background The aim of this study was to assess the association between T3, T4, FT3, FT4, TSH, Anti TPO, Free BhCG, B-MOM, P-MOM, and NT-MOM with the risk level of screening tests in the first trimester of pregnancy in hypothyroid and control women. Methods In this case-control study, 82 pregnant women were enrolled. The ELISA method was performed to evaluate the serum levels of T3, free T3, T4, free T4, TSH, and Anti TPO, and the first stage of fetal screening tests including Free BhCG, B-MOM, P-MOM, NT-MOM were done by Electro-chemiluminescent (ECL) method., and finally data analysis was performed with SPSS statistical software. Results The average levels of TSH (p-value = 0.001), TPO (p-value = 0.006), trisomy 21 (p-value < 0.001), and trisomy 13/18 (p-value < 0.001) in the intervention group were significantly higher and PAPP-A was significantly (p-value < 0.001) lower than control group; However, there was no statistical difference between the intervention and control groups in terms of the mean levels of beta-hCG (p-value = 0.297), B-MoM (p-value = 0.202), and NT-MoM (p-value = 0.221). Also, in the intervention with levothyroxine group, the mean serum TSH level was significantly higher in the screen positive group and the medium risk group of DS than the negative screen group (p-value = 0.014). Conclusion: It is suggested to identify hypothyroid pregnant mothers early and make it mandatory to perform timely fetal health screening tests in the first trimester of pregnancy in this group of mothers, with the aim of identifying fetuses at risk of developing chromosomal disorders. This should be the priority of maternal health policy makers.

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Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study

Cited by 6 publications

References 13 publications

Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy

Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

Investigating the relationship between thyroid hormones with the risk level screening tests in the first trimester of pregnancy in hypothyroid women: A case-control study

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