First‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β‐hCG and PAPP‐A: a 5‐year prospective study

Ghaffari, Saeed Reza; Tahmasebpour, Ahmad‐Reza; Jamal, Ashraf; Hantoushzadeh, Sedigheh; Eslamian, L.; Marsoosi, V.; Fattahi, F.; Rajaei, Minoo; Niroomanesh, Shirin; Borna, Sedigheh; Beigi, Abbas Moghim; Khazardoost, Soghra; Salehgargari, Soraya; Rahimi-Sharbaf, Fatemeh; Farrokhi, Babak; Bayani, N; Tehrani, Sara; Shahsavan, K.; Farzan, Shohreh F.; Moossavi, Shirin; Ramezanzadeh, Fatemeh; Dastan, Jila; Rafati, Maryam

doi:10.1002/uog.10051

Cited by 43 publications

(42 citation statements)

References 31 publications

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“…Inclusion of more parameters also greatly decreased the FPR. Compared to the group incorporating biochemical markers and NT with an FPR of 4.1%, the group that extended all markers had a lower FPR of 2.4%, which is consistent with the study by Ghaffari et al [23]. …”

Section: Discussionsupporting

confidence: 82%

Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study

Hsiao¹,

Cheng²,

Shaw³

et al. 2014

Fetal Diagn Ther

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Objective: To examine the performance of first-trimester screening test combining several fetal sonographic and maternal biochemical markers for major aneuploidy in a Chinese population. Methods: This was a prospective study performed over 5 years between January 2005 and December 2010 in Taiwan, with 20,586 cases that had a combination of a variety of sonographic markers and maternal serological β-human chorionic gonadotropin and pregnancy-associated plasma protein-A levels assessed at first trimester screening between 11⁺⁰ and 13⁺⁶ weeks of gestation. The risk of aneuploidy was calculated using algorithm software developed by Fetal Medicine Foundation, London. Fetal karyotyping was performed when the prenatal screening showed a risk of 1/300 or higher. All cases were followed for fetal outcome. Results: The study population was divided into four groups according to the screening strategy performed. The combination of maternal serological biochemistry and nuchal translucency measurement had a 66.7% detection rate of trisomy 21. Addition of nasal bone status increased the detection rate of trisomy 21 to 88.2%. Inclusion of tricuspid regurgitation flow showed an 87.5% detection rate of trisomy 21. Further inclusion of ductus venosus flow increased the detection rate of trisomy 21 to 100%. Incorporating more markers greatly increased the detection rate and decreased the false-positive rate (FPR). Conclusion: Extension of first-trimester screening to include more sonographic markers greatly increased the sensitivity and decreased FPR for detection of chromosomal abnormalities. Such screening strategy is effective in clinical practice for the Chinese ethnic population.

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Section: Discussionsupporting

confidence: 82%

Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study

Hsiao¹,

Cheng²,

Shaw³

et al. 2014

Fetal Diagn Ther

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“…Regarding the expanded combined test, an improved screening efficacy has been reported in previous studies, obtaining both an increased DR and a reduced FPR (10-29%) [15,25]. In our series, only the addition of DV or NB ± DV to the combined test resulted in a reduction of FPR by about one fourth (25-29%), similar to that reported in a previous study [14].…”

Section: Discussionsupporting

confidence: 80%

Likelihood Ratios to Apply for Nasal Bone, Ductus Venosus and Tricuspid Flow at the 11-13 Weeks' Scan in Down Syndrome Screening

Illa¹,

Mula²,

Arigita³

et al. 2013

Fetal Diagn Ther

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Objective: To assess the feasibility of nasal bone (NB), ductus venosus (DV) and tricuspid flow (TF) at the 11-13 weeks' scan, calculate likelihood ratios for each of the markers and evaluate their efficacy in expanded and contingent screening strategies for Down syndrome. Material and Methods: NB, DV and TF were assessed in 11,261 singleton fetuses undergoing first trimester combined screening. For each marker, Down syndrome detection rate (DR), false positive rate (FPR), positive, negative and isolated likelihood ratios (PLR, NLR and iLR) were calculated. Likelihood ratios were multiplied to the combined test risk either to the entire population or to the intermediate risk group (expanded and sequential strategies, respectively). Results: Down syndrome was diagnosed in 101 pregnancies. Feasibility for marker assessment ranged from 71 to 97%, DRs for isolated markers from 20 to 54% and FPRs from 1.3 to 5.3%. PLR ranged from 10 to 15, NLR from 0.5 to 0.8 and iLR from 3.9 to 5.6. When ultrasound markers were added to both strategies, a significant FPR reduction was observed. Conclusion: The application of NB, DV and TF likelihood ratios to the combined test risk, either in an expanded or contingent strategy, result in a FPR reduction.

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“…However, we failed to reach the excellent 100% detection rates obtained by Hsiao et al [14] or Ghaffari et al [15] at lower FPRs of 2.4% or 3.4%, respectively.…”

Section: Discussionmentioning

confidence: 39%

“…Using an ultrasound only based protocol, with NT and all additional markers, for a FPR of 5%, the detection rate for T21 reached 94-97.5% [11][12][13]. When all of these markers were added to a traditional combined test, the detection rate substantially increased to up to 100%, for a FPR of 2.4% [14] or 3.4% [15].…”

Section: Www Journalsviamedicapl/ginekologia_polskamentioning

confidence: 89%

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

et al. 2018

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Objectives: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. Material and methods:We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A).Results: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fβ-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. Conclusion:The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers.

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First‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β‐hCG and PAPP‐A: a 5‐year prospective study

Abstract: Objective

Cited by 43 publications

References 31 publications

Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study

Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study

Likelihood Ratios to Apply for Nasal Bone, Ductus Venosus and Tricuspid Flow at the 11-13 Weeks' Scan in Down Syndrome Screening

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

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