OP34.03: Prenasal thickness, nasal bone length and their ratio: good second trimester sonographic markers for Down syndrome

Szabó, Andrea; Szili, Károly; Szabó, János; Isaszegi, D.; Horváth, Emese; Sikovanyecz, János

doi:10.1002/uog.11720

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“…Preliminary observations using 2D ultrasound measurements of NBL and PT at our tertiary referral center suggested the potential for the second‐trimester identification of euploid and Down syndrome fetuses in a mixed‐risk population . Therefore, we proposed that both markers and their ratios should be incorporated into the second‐trimester fetal anomaly scan for a reliable, cheap, and efficient screening of Down syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…11 Preliminary observations using 2D ultrasound measurements of NBL and PT at our tertiary referral center suggested the potential for the second-trimester identification of euploid and Down syndrome fetuses in a mixed-risk population. 14 Therefore, we proposed that both markers and their ratios should be incorporated into the second-trimester fetal anomaly scan for a reliable, cheap, and efficient screening of Down syndrome. The current prospective study examined the clinical value of 2D ultrasound measurements of NBL, PT, and their ratios for differentiating euploid and Down syndrome fetuses in the second trimester (in an at-risk population).…”

Section: Introductionmentioning

confidence: 99%

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Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome

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ObjectivesTo evaluate the feasibility of incorporating two-dimensional ultrasound measurements of nasal bone length (NBL) and prenasal thickness (PT) into the second-trimester anomaly scan and to determine whether the NBL : PT ratio could help in differentiating euploid and Down syndrome fetuses.MethodTwo-dimensional measurements of NBL and PT were obtained from the midsagittal plane of the fetal head at 14–28 weeks of gestation in a Caucasian population at risk for aneuploidy. The screening performances of NBL, PT, and the ratios NBL : PT and PT : NBL were analyzed in euploid (n = 1330) and Down syndrome (n = 33) fetuses.ResultsNasal bone length and PT alone showed strong correlations with Down syndrome (sensitivity: 76% at 1.88% and 2.35% false positive rate, respectively). However, the NBL : PT ratio showed an even stronger correlation with Down syndrome (false positive rate: 0.9%, sensitivity: 97%). The mean NBL : PT ratio showed a gradual increase from 1.48 to 1.79 (a 21.2% increase) between 14 and 28 weeks of gestation.ConclusionTwo-dimensional ultrasound measurements of NBL and PT, particularly the NBL : PT ratio, are highly sensitive markers for Down syndrome fetuses. © 2014 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome

et al. 2014

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“…Our preliminary observations using 2D ultrasound measurements of NBL and PT at our tertiary referral center suggested the potential for the second-trimester identification of euploid and Down syndrome fetuses in a mixed-risk population (33,34).Considering the data from the literature and our good experience with the PT-to-NBL and NBL-to-PT ratio for screening for trisomy 21, a study was started from January 2008 and these markers were incorporated into our second trimester fetal anomaly scan. This prospective study examined the clinical value of 2D ultrasound measurements of NBL, PT, and their ratios for differentiating euploid and Down syndrome fetuses in the second trimester (in an at-risk population).…”

Section: Figure 1 Age Related-risk Of Down Syndromementioning

confidence: 99%

The ratio of nasal bone length to prenasal thickness

Szabó

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The ratio of nasal bone length to prenasal thickness: a novel approach for prenatal ultrasound screening of Down syndrome in the second trimester PhD thesis A n d r e a S z a b o , M D S u p e r v is o r : ABSTRACT Objectives To evaluate the feasibility o f incorporating tw o-dim ensional ultrasound m easurem ents o f nasal bone length (NBL) and prenasal thickness (PT) into the second -trim ester anom aly scan and to determ ine w hether the N B L : PT ratio could help in differentiating euploid and Down syndrom e fetuses. M ethod Tw o-dim ensional m easurem ents o f NBL and PT w ere obtain ed from the m idsagittal plane o f the fetal head at 14-28 weeks o f gestation in a C aucasian population at risk for aneuploidy. T he screening perform ances o f NBL, PT, and the ratios N B L : PT and P T : NBL were analyzed in euploid (n = 1330) and Down syndrom e (n = 33) fetuses.Results Nasal b o n e length and PT alone showed strong correlations with Down syndrom e (sensitivity: 76% at 1.88% and 2.35% false positive rate, respectively). However, the N B L :P T ratio showed an even stronger correlation with Down syndrom e (false positive rate: 0.9%, sensitivity: 97% ). The m ean N B L : PT ratio showed a gradual increase from 1.48 to 1.79 (a 21.2% increase) betw een 14 and 28 weeks o f gestation.Conclusion Tw o-dim ensional ultrasound m easurem ents o f NBL and PT, particularly the N B L :P T ratio, are highly sensitive m arkers for Down syndrom e fetuses. Andrea Szilvia Szabó, MD: m ed ical doctor, genetic counseling; Károly Szili, MD: m edical doctor, IT, quality m anagem ent, statistics; Prof. János Szabó, MD: leader of gen etic counseling; E m ese H orváth, MD: gen etic counseling, cyto gen etic analysis D óra Isaszegi, M Sc: cytogenetic analysis. János Tamás Szabó, MD: medical doctor and ultrasound scanning; János Sikovanyecz, MD: medical doctor and ultrasound scanning. WHAT'S ALREADY K N O W N ABOUT THIS TOPIC?Preliminary 2D and retrospective 3D studies show that the ratio of prenasalthlckness to nasalbone length (PT: NBL) is a strong marker of second-trimester Down syndrome fetuses. W HAT DOES THIS STUDY ADD?The ratio of nasal bone length to prenasalthickness (NBL: PT) had performed better than its inverse counterpart for the screening of trisomy 21.In euploid fetuses, the PT: NBL and the NBL: PT ratios showed gradualincreases over time. Two-dimensionalultrasound measurements of NBL and PT were successfully incorporated into the routine second-trimester anomaly scan.

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News methods for second trimester screening of Down syndrome: statistical analysis of the use of nasal bone length and prenasal thickness

et al. 2014

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OP34.03: Prenasal thickness, nasal bone length and their ratio: good second trimester sonographic markers for Down syndrome

Cited by 3 publications

References 0 publications

Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome

Nasal bone length: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome

The ratio of nasal bone length to prenasal thickness

News methods for second trimester screening of Down syndrome: statistical analysis of the use of nasal bone length and prenasal thickness

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