Dataset Information

Effects of period of gestation and position of fetal neck on nuchal translucency measurement.

ABSTRACT:

Objective

The aim of this study was to determine the effects of period of gestation and position of fetal neck on nuchal translucency measurement.

Materials and methods

Nuchal translucency was measured in the mid-sagittal plane, with the fetal neck in the flexed, neutral, and extended positions in 100 pregnant women between 11 and 13(+6) weeks. Mean nuchal translucency measurements at different periods of gestation were compared. Differences between the extended and neutral positions (? extended nuchal translucency) and those between the flexed and neutral positions (? flexed nuchal translucency) were calculated. The repeatability coefficients for the measurements in all the three positions were computed. Statistical analysis was also done.

Results

Nuchal translucency values were 1.050 ± 0.282 mm in the 11th week, 1.243 ± 0.348 mm in the 12th week, and 1.823 ± 0.357 mm in the 13th week (r = 0.747, p < 0.0001). The mean ? flexed value was 0.233 ± 0.133 mm lesser than the neutral value (p < 0.0001). The mean ? extended nuchal translucency was 0.305 ± 0.155 mm greater than the neutral value (p < 0.0001). The repeatability coefficient was the lowest in the neutral position (0.17 mm in the neutral position, 0.28 in the flexed position and 0.41 mm in the extended position).

Conclusion

We concluded that the period of gestation and fetal neck position can make a significant difference to nuchal translucency measurement. Repeatability of measurement is more accurate with the fetal neck in the neutral position. These findings have important implications for clinicians using nuchal translucency to screen the obstetric population for Down's syndrome.

SUBMITTER: Kore S

PROVIDER: S-EPMC3763059 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Publications

Effects of period of gestation and position of fetal neck on nuchal translucency measurement.

Kore Shailesh S Hegde Aparna A Kanavia Divya D Supe Pradnya P Parikh Mansi M Nandanwar Y S YS

Journal of obstetrics and gynaecology of India 20130416 4

<h4>Objective</h4>The aim of this study was to determine the effects of period of gestation and position of fetal neck on nuchal translucency measurement.<h4>Materials and methods</h4>Nuchal translucency was measured in the mid-sagittal plane, with the fetal neck in the flexed, neutral, and extended positions in 100 pregnant women between 11 and 13(+6) weeks. Mean nuchal translucency measurements at different periods of gestation were compared. Differences between the extended and neutral positi ...[more]

PMID: 24431650

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Project description:Background: Increased nuchal translucency (NT) is an important biomarker associated with increased risk of fetal structural anomalies. It is known to be contributed by a wide range of genetic etiologies from single-nucleotide variants to those affecting millions of base pairs. Currently, prenatal diagnosis is routinely performed by karyotyping and chromosomal microarray analysis (CMA); however, both of them have limited resolution. The diversity of the genetic etiologies warrants an integrated assay such as genome sequencing (GS) for comprehensive detection of genomic variants. Herein, we aim to evaluate the feasibility of applying GS in prenatal diagnosis for the fetuses with increased NT. Methods: We retrospectively applied GS (> 30-fold) for fetuses with increased NT (?3.5?mm) who underwent routine prenatal diagnosis. Detection of single-nucleotide variants, copy number variants, and structural rearrangements was performed simultaneously, and the results were integrated for interpretation in accordance with the guidelines of the American College of Medical Genetics and Genomics. Pathogenic or likely pathogenic (P/LP) variants were selected for validation and parental confirmation, when available. Results: Overall, 50 fetuses were enrolled, including 34 cases with isolated increased NT and 16 cases with other fetal structural malformations. Routine CMA and karyotyping reported eight P/LP CNVs, yielding a diagnostic rate of 16.0% (8/50). In comparison, GS provided a twofold increase in diagnostic yield (32.0%, 16/50), including one mosaic turner syndrome, eight cases with microdeletions/microduplications, and seven cases with P/LP point mutations. Moreover, GS identified two cryptic insertions and two inversions. Follow-up study further demonstrated the potential pathogenicity of an apparently balanced insertion that disrupted an OMIM autosomal dominant disease-causing gene at the insertion site. Conclusions: Our study demonstrates that applying GS in fetuses with increased NT can comprehensively detect and delineate the various genomic variants that are causative to the diseases. Importantly, prenatal diagnosis by GS doubled the diagnostic yield compared with routine protocols. Given a comparable turnaround time and less DNA required, our study provides strong evidence to facilitate GS in prenatal diagnosis, particularly in fetuses with increased NT.

Dataset Information

Effects of period of gestation and position of fetal neck on nuchal translucency measurement.

Objective

Materials and methods

Results

Conclusion

Publications

Effects of period of gestation and position of fetal neck on nuchal translucency measurement.

Similar Datasets

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