Disease relevance of Nuchal Translucency Measurement

• Increased fetal nuchal translucency was defined as an area of translucency at least 3 mm in width, and cystic hygromas were defined as septated, fluid-filled sacs in the nuchal region [1].
• CONCLUSION: First-trimester screening for Down syndrome with nuchal translucency screening alone or with serum markers is more clinically effective and cost-effective than the current expanded AFP screen that is being used [2].
• First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome [3].
• Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome) [4].
• In fetuses with increased nuchal translucency thickness, the prevalence of major cardiac defects, diaphragmatic hernia, exomphalos, body stalk anomaly and fetal akinesia deformation sequence is substantially higher than expected in the general population [5].

High impact information on Nuchal Translucency Measurement

• In conclusion, the interaction between neurogenesis and vasculogenesis is disturbed in the trisomy 16 mouse model, and might be a common denominator in the spectrum of anomalies associated with increased nuchal translucency [6].
• Increased NCAM expression and vascular development in trisomy 16 mouse embryos: relationship with nuchal translucency [6].
• Pregnancy-associated plasma protein A, free human chorionic gonadotrophin and nuchal translucency as predictors of miscarriage [7].
• The BUN study (Biochemistry, Ultrasound, Nuchal translucency) was conceived to evaluate the performance of first trimester screening using PAPP-A, free beta HCG, and ultrasound measurement of the nuchal translucency when introduced into practice [8].
• There is no justification for retaining the Double (alpha-fetoprotein and hCG) or Triple (alpha-fetoprotein, uE3, and hCG) tests, or nuchal translucency alone (with or without maternal age) in antenatal screening for Down's Syndrome [9].

Biological context of Nuchal Translucency Measurement

• CONCLUSION: Extreme values of first-trimester free beta-hCG, PAPP-A, and nuchal translucency are all associated with adverse outcomes [10].
• Fetal nuchal translucency thickness at 10-14 weeks' gestation and congenital diaphragmatic hernia [11].
• OBJECTIVE: To assess the effectiveness of free beta-hCG, pregnancy-associated plasma protein A, and nuchal translucency in a prospective first-trimester prenatal screening study for Down syndrome and trisomy 18 [12].
• STUDY DESIGN: Assessment of risk for trisomy 21 was carried out by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 to 13+6 weeks [13].
• In addition to this association with aneuploidy, multiple studies have now identified increased nuchal translucency as a nonspecific marker of a wide range of fetal structural abnormalities, to include congenital diaphragmatic hernia, cardiac defects, and various genetic syndromes [14].

Anatomical context of Nuchal Translucency Measurement

• SETTING: Fetal Medicine Centre. METHODS: Specialist fetal echocardiography was carried out in 398 chromosomally normal fetuses with a nuchal translucency measurement above the 99th centile (> or = 3.5 mm) [15].

Associations of Nuchal Translucency Measurement with chemical compounds

• In combination with nuchal translucency, urine total oestriol added an extra 1 per cent detection, urine beta core an extra 2 per cent, urine free beta hCG an extra 3 per cent, and serum free beta hCG an extra 5 per cent [16].
• The markers tested included maternal serum free beta-human chorionic gonadotrophin (hCG), pregnancy-associated plasma protein A (PAPP-A), alpha-fetoprotein, unconjugated estriol and ultrasound nuchal translucency thickness [17].
• Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency [18].
• RESULTS: Using a fixed screen-positive rate (SPR) of 5%, the first-trimester combined test [nuchal translucency (NT), PAPP-A and free beta-hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP-A, AFP, hCG, uE3 and inhibin A) yielded a DR of 86% [19].
• Impaired glucose tolerance was more common in pregnant women whose nuchal translucency was above the 95th centile (p = 0.048) [20].

Gene context of Nuchal Translucency Measurement

• METHODS: Women presenting at the first trimester OSCAR clinic have blood collected prior to ultrasound dating and nuchal translucency measurement [21].
• Low free beta-hCG, low PAPP-A, and increased nuchal translucency were all associated with an increased rate of fetal abnormality [10].
• MAIN OUTCOME MEASURE: Fetal karyotype, serum levels of free beta-hCG, pregnancy-associated plasma protein A (PAPP-A) and alpha-fetoprotein and the measurement of nuchal translucency [22].
• OBJECTIVE: To examine the possible association between increased fetal nuchal translucency thickness at 10-14 weeks and congenital diaphragmatic hernia [11].
• OBJECTIVE: To investigate whether the increased nuchal translucency of trisomic fetuses is the consequence of heart failure by examining cardiac expression of atrial natriuretic peptide and brain natriuretic peptide genes [23].

Analytical, diagnostic and therapeutic context of Nuchal Translucency Measurement

• At the 10- to 14-week scan, the fetal nuchal translucency was above the 95th centile for crown-rump length in seven (37%) cases of diaphragmatic hernia [11].
• Association of extreme first-trimester free human chorionic gonadotropin-beta, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth restriction and other adverse pregnancy outcomes [10].
• Congenital diaphragmatic hernia. Two cases with early prenatal diagnosis and increased nuchal translucency [24].
• In the control group, SP1 increased significantly with fetal crown-rump length (r = 0.20, P < 0.0001) and there was no significant association with fetal nuchal translucency thickness (r = 0.03) [25].

References