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Comparative studies of two dimensional and three dimensional ultrasonic nuchal translucency in trisomy assessments

Wee LK, Chai HY, Samsury SR, Mujamil NF, Supriyanto E

An Acad Bras Cienc, 2012 Dec;84(4):1157-68.
PMID: 23207710

Current two-dimensional (2D) ultrasonic marker measurements are inherent with intra- and inter-observer variability limitations. The objective of this paper is to investigate the performance of conventional 2D ultrasonic marker measurements and proposed programmable interactive three-dimensional (3D) marker evaluation. This is essentially important to analyze that the measurement on 3D volumetric measurement possesses higher impact and reproducibility vis-à-vis 2D measurement. Twenty three cases of prenatal ultrasound examination were obtained from collaborating hospital after Ethical Committee's approval. The measured 2D ultrasonic marker is Nuchal Translucency or commonly abbreviated as NT. Descriptive analysis of both 2D and 3D ultrasound measurement were calculated. Three trial measurements were taken for each method. Both data were tested with One-Sample Kolmogorov-Smirnov Test and results indicate that markers measurements were distributed normally with significant parametric values at 0.621 and 0.596 respectively. Computed mean and standard deviation for both measurement methods are 1.4495 ± 0.46490 (2D) and 1.3561 ± 0.50994 (3D). ANOVA test shows that computerized 3D measurements were found to be insignificantly different from the mean of conventional 2D at the significance level of 0.05. With Pearson's correlation coefficient value or R = 0.861, the result proves strong positive linear correlation between 2D and 3D ultrasonic measurements. Reproducibility and accuracy of 3D ultrasound in NT measurement was significantly increased compared with 2D B-mode ultrasound prenatal assessment. 3D reconstructed imaging has higher clinical values compare to 2D ultrasound images with less diagnostics information.

Matched MeSH terms: Nuchal Translucency Measurement/methods*
Machine learning improves early prediction of small-for-gestational-age births and reveals nuchal fold thickness as unexpected predictor

Saw SN, Biswas A, Mattar CNZ, Lee HK, Yap CH

Prenat Diagn, 2021 Mar;41(4):505-516.
PMID: 33462877 DOI: 10.1002/pd.5903

OBJECTIVE: To investigate the performance of the machine learning (ML) model in predicting small-for-gestational-age (SGA) at birth, using second-trimester data.
METHODS: Retrospective data of 347 patients, consisting of maternal demographics and ultrasound parameters collected between the 20th and 25th gestational weeks, were studied. ML models were applied to different combinations of the parameters to predict SGA and severe SGA at birth (defined as 10th and third centile birth weight).
RESULTS: Using second-trimester measurements, ML models achieved an accuracy of 70% and 73% in predicting SGA and severe SGA whereas clinical guidelines had accuracies of 64% and 48%. Uterine PI (Ut PI) was found to be an important predictor, corroborating with existing literature, but surprisingly, so was nuchal fold thickness (NF). Logistic regression showed that Ut PI and NF were significant predictors and statistical comparisons showed that these parameters were significantly different in disease. Further, including NF was found to improve ML model performance, and vice versa.
CONCLUSION: ML could potentially improve the prediction of SGA at birth from second-trimester measurements, and demonstrated reduced NF to be an important predictor. Early prediction of SGA allows closer clinical monitoring, which provides an opportunity to discover any underlying diseases associated with SGA.

Matched MeSH terms: Nuchal Translucency Measurement
Fulltext Outcome of pregnancy in chromosomally normal foetus with increased nuchal translucency

Ranjit, S., Carol, P., Kellie, C., Pauline, M., Renuka, S.

International Medical Journal Malaysia, 2018;17(1):55-62.
MyJurnal

Objective: The aim of this study is to evaluate the outcome of pregnancy in prenatal and postnatal period of pregnancy complicated with thick nuchal translucency but normal karyotype. Methods: This is a retrospective study of 119 singleton pregnancies with increased NT (NT > 2.5mm) but a normal karyotype over a 3 year period. The records of ultrasound at 18-20 and 25-26 weeks’, antenatal and postnatal details were reviewed. The developmental and health outcomes of the surviving children were obtained through telephone conversation with the family. Adverse outcome such as miscarriages, termination of pregnancy, intrauterine death, structural anomalies and neurodevelopment delay were analysed. Results: Out of 119 foetuses with increased NT but normal karyotype, 11.8% of pregnancies ended with miscarriages, termination of pregnancy and intrauterine death. 89.9% foetuses were structurally normal. 12.9% presented with structural anomalies in the second-trimester ultrasound scan. 81.8% showed major malformations, out of which 44% consisted of heart defects. 1% of foetuses were syndromic and 1.9% had developmental delay. 96.8% of foetuses with NT equal to or greater than the 95th percentile (3.4mm) and 80% with NT equal to or greater than the 99 percentile (5.5mm) had a normal outcome. 50% of foetuses with thickened nuchal fold had a poor outcome. Postnatal follow-up was established for all infants and toddlers, and abnormalities were observed in 5.6% of them. Chances of having a live and healthy infant decreases with increased NT, corresponding to 80% for NT equal to or greater than 5.5mm. Conclusion: We have provided data that may help in the counselling of parents and increasing their confidence on a favourable pregnancy outcome. In cases with increased nuchal translucency but normal karyotype, the chances of normal pregnancy success rate is 89.9%. Parents can be reassured that thickened nuchal translucency with a normal karyotype and normal targeted ultrasound between 20-22 weeks gestation, the risk of adverse perinatal outcome and postnatal developmental delay is not increased in comparison with that of the general population. This seems to be the case for all degrees of increased nuchal translucency.

Matched MeSH terms: Nuchal Translucency Measurement
Book: Genetics for obstetricians and gynaecologists: Chapter: Genetic markers on ultrasound scan

Sivanathan J, Thilaganathan B

Best Pract Res Clin Obstet Gynaecol, 2017 Jul;42:64-85.
PMID: 28456373 DOI: 10.1016/j.bpobgyn.2017.03.005

Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced. Nuchal translucency (NT) measurement was one of the main advances with regard to first trimester screening. Additional markers such as the presence of nasal bone, tricuspid regurgitation, ductus venosus and megacystis; together with first trimester serum biochemistry, further enhanced the detection rate of chromosomal abnormalities. Advances in research and technology have resulted in the availability of non-invasive prenatal testing from 10 weeks of gestation. This has facilitated the detection of the three major chromosomal aneuploidies at very early gestation. However, there are a wide range of genetic syndromes that are not confined to the main trisomies. There are specific markers on ultrasound that can be linked to specific syndromes. Hence, a structured and stepwise approach is needed to identify and reach a possible diagnosis. As anomalies are classified into malformations, deformations and disruptions, it is important to note that not all markers detected are due to genetic syndromes and not all genetic syndromes can be detected on ultrasound scan. In this chapter, we outline common structural markers and their association with main genetic syndromes.

Matched MeSH terms: Nuchal Translucency Measurement