Talk:Ultrasound - Nuchal Translucency

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Cite this page: Hill, M.A. (2021, September 23) Embryology Ultrasound - Nuchal Translucency. Retrieved from


Kalayci H, Yilmaz Baran Ş, Doğan Durdağ G, Yetkinel S, Alemdaroğlu S, Özdoğan S, Yüksel Şimşek S & Bulgan Kiliçdağ E. (2020). Reference values of the ductus venosus pulsatility index for pregnant women between 11 and 13+6 weeks of gestation. J. Matern. Fetal. Neonatal. Med. , 33, 1134-1139. PMID: 30157671 DOI. Reference values of the ductus venosus pulsatility index for pregnant women between 11 and 13+6 weeks of gestation

Abstract Purpose: The ductus venosus pulsatility index velocity (DV PIV) has become a popular ultrasonographic measurement during the first trimester of pregnancy. The value of the DV PIV has been the topic of ongoing discussion in the literature, and its reference value in the normal population has not yet been established. Therefore, we aimed to determine a reference value for the DV PIV.Materials and Methods: We retrospectively evaluated our records of first-trimester ultrasonography performed between 2016 and 2017. Our inclusion criteria were as follows: singleton pregnancy; crown-rump length (CRL) between 45 and 84 mm; absence of structural abnormalities on the ultrasound examination; and absence of chromosomal abnormalities. Records of 820 patients were evaluated. According to the inclusion criteria, records of 458 patients were included in this study. All ultrasound examinations were performed by a single operator with the Voluson E8 (5- to 8-MHz 3 D transducer; General Electric Healthcare, Little Chalfont, UK) via the transabdominal route. Gestational weeks were designated according to CRL measurements at the beginning of the examination. Nuchal translucency (NT), nasal bone visualization (NB), tricuspid valve regurgitation (TR), "a"-wave pattern, DV PIV, S-wave (peak systolic velocity), D-wave (peak diastolic velocity), a-wave (atrial contraction in late diastole), and time-averaged maximum velocity (TAMXV) measurements were performed. To evaluate the DV Doppler images, a mid-sagittal view of the fetal profile was obtained. Color Doppler and pulse Doppler gate were used in the distal portion of the umbilical sinus, and at least three typical DV waveforms were detected. The SPSS 21.0 statistical program (IBM, Armonk, NY) was used to analyze variables.Results: The mean age, body mass index, CRL, gestational age, and NT values were 30.3 years (range, 18-45), 23.9 kg/m2 (range, 15.5-46.6), 59.5 mm (range, 45-79), 12.3 weeks (range, 11.2-13.6), and 1.58 mm (range, 0.73-2.62), respectively. The median gravidity and parity were 2 (1-8) and 0 (0-4), respectively. The "a"-wave pattern was identified in all cases, but TR was not detected in any of the cases. Measurements of DV PIV with a Gaussian distribution were suitable according to the Shapiro-Wilk test (p = .252). The mean DV PIV was 0.98, and the fifth and 95th percentiles were 0.73 and 1.22 (±2 SD), respectively. A statistical analysis of our cohort revealed that DV PIV values less than 0.73 and more than 1.22 were beyond the normal range. The mean S-wave, D-wave, a-wave, and TAMXV values were 31.18, 25.64, 8.68, and 22.72 cm/s, respectively.Conclusions: The value of DV PIV measurements is debated in the literature. Using our cohort, we defined the means and ranges of DV PIV. Determining the normal ranges of DV PIV could be helpful to anticipate congenital or chromosomal abnormalities. Further studies are needed to demonstrate the clinical importance of DV PIV, especially for patients with abnormal DV PIV measurements. KEYWORDS: Doppler; First trimester; ductus venosus; pulsatility index; reference range

DOI: 10.1080/14767058.2018.1517152


Torrent A, Manrique G, Gómez-Castelló T, Baldrich E, Cahuana M, Manresa JM & Borrell A. (2019). Sonologist's characteristics related to a higher quality in fetal nuchal translucency measured in primary antenatal care centers. Prenat. Diagn. , 39, 934-939. PMID: 31237971 DOI.

Sonologist's characteristics related to a higher quality in fetal nuchal translucency measured in primary antenatal care centers

OBJECTIVE: To assess the quality of nuchal translucency (NT) measurements in primary care and the sonologist's characteristics related with a higher quality. METHODS: The median NT expressed in multiples of the median (MoM) was calculated for each sonologist of 14 participating antenatal primary care centers of the Catalan Institute of Health. A survey to the sonologists was used to establish variables related to higher-quality measurements. RESULTS: The median NT MoM obtained in 16 448 NT measurements, performed by 102 sonologists, was 0.94 MoM. NT underestimation was observed in 46% of the sonologists. Underestimation were less frequent among professionals who performed more than 230 ultrasounds per year (26% vs 53%;p = .022), those who completed the online Fetal Medicine Foundation (FMF) course (22% vs 54%; p = .021), and those who were subject to periodic audits (24% vs 56%; p = .021). Underestimation rate decreased from 60%, to 33% and 14% with the increase of the years of experience from less than 5 years, to 6 to 15 years and more than 15 years of experience, respectively (p = .029). CONCLUSIONS: Higher-quality measurements were demonstrated in sonologists who performed more ultrasounds per year, those with more years of scanning experience, those who completed the online FMF course, and those periodically audited. © 2019 John Wiley & Sons, Ltd. PMID: 31237971 DOI: 10.1002/pd.5512


The cut-off value for normal nuchal translucency evaluated by chromosomal microarray analysis

Ultrasound Obstet Gynecol. 2017 Jan 30. doi: 10.1002/uog.17421. [Epub ahead of print]

Maya I1,2, Yacobson S1, Kahana S1, Yeshaya J1, Tenne T3, Agmon-Fishman I1, Cohen-Vig L1, Shohat M4,2, Basel-Vanagaite L1,5,6,2, Sharony R3,7,2.


OBJECTIVES: An association between isolated, increased nuchal translucency thickness and pathogenic chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies used a 3.5 mm cut-off value. Considering nuchal translucency distribution and the commonly accepted 5% false positive rate in maternal serum screening, nuchal translucency cut-off levels should be reconsidered. This study evaluated the unique contribution of CMA to the investigation of foetuses with mildly increased nuchal translucency (NT) thickness of 3.0-3.4 mm. METHODS: This was a retrospective, multicenter study. A single laboratory performed all genetic analyses. Comparative Genomic Hybridization Microarray analysis or Single Nucleotide Polymorphism Array technology was used for CMA. NT was divided into three groups (≤2.9; 3.0-3.4; ≥3.5 mm) and the results were compared, focusing on pregnancies with NT as the only medical indication for CMA at the time of the invasive procedure. If combined first trimester screening (NT and biochemistry) indicated increased risk for common aneuploidies, the case was excluded. RESULTS: CMA results were recorded in 1,588 pregnancies, of which 770 foetuses had NT as a normal or an isolated abnormal finding. Of these, 462 had NT ≤2.9 mm, 170 had NT 3.0-3.4 mm and 138 had NT ≥3.5 mm. Pathogenic copy number variations were found in 1.7%, 7.1%, and 13.0%, respectively. CONCLUSIONS: The results suggest that CMA should be part of the investigation in foetuses with isolated, mildly increased NT (3.0-3.4 mm). This article is protected by copyright. All rights reserved.

KEYWORDS: chromosomal microarray analysis; copy number variations; nuchal translucency; non-invasive prenatal testing; variable of unknown significance PMID 28133835

Nuchal translucency measurement in the era of prenatal screening for aneuploidy using cell free (cf)DNA

Prenat Diagn. 2017 Jan 26. doi: 10.1002/pd.5010. [Epub ahead of print]

O'Brien BM1,2, Halliday J1, Lambert-Messerlian G1,3, Eklund EE3, Kloza E3, Palomaki GE3.

PMID 28124379


Observational study comparing the performance of first-trimester screening protocols for detecting trisomy 21 in a North Indian population

Int J Gynaecol Obstet. 2016 Dec 22. doi: 10.1002/ijgo.12087. [Epub ahead of print]

Kaul A1, Singh C1, Gupta R1, Arora N1, Gupta A2.


OBJECTIVE: To evaluate first-trimester screening protocols for detecting trisomy 21 in an Indian population. METHODS: The present prospective study collected data from women with singleton pregnancies and a crown-to-rump length of 45-84 mm who presented at the fetal medicine unit of a tertiary care center in North India between June 1, 2006, and December 31, 2015, for combined first-trimester screening. Maternal age, nuchal translucency, nasal bone, and maternal serum levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A were assessed for calculating the risk of trisomy 21. Tricuspid regurgitation and qualitative analysis of ductus venosus data were available from June 2010, and were included where available. Trisomy-21 detection rates were calculated for various screening protocols and were compared. RESULTS: There were 4523 women screened and 24 records of trisomy 21. Combined screening with maternal age, nuchal translucency, nasal bone, tricuspid regurgitation, and ductus venosus demonstrated optimal detection and false-positive rates of 93.8% and 1.9%, respectively. Screening using only maternal age yielded a detection rate of 37.5%; using fixed nuchal translucency cut-off values of 2.5 and 3 mm resulted in detection rates of 66.7% and 37.5%, respectively. CONCLUSION: Combined first-trimester screening performed well in an Indian population; combining maternal age, nuchal translucency, nasal bone, ductus venosus, and tricuspid regurgitation yielded the most accurate screening. © 2016 International Federation of Gynecology and Obstetrics.

KEYWORDS: Combined first-trimester screening; Nuchal translucency; Prenatal screening; Trisomy 21; Ultrasonography PMID 28099747 DOI: 10.1002/ijgo.12087


Normal reference range of fetal nuchal translucency thickness in pregnant women in the first trimester, one center study

J Res Med Sci. 2015 Oct;20(10):969-73. doi: 10.4103/1735-1995.172786.

Sharifzadeh M1, Adibi A1, Kazemi K2, Hovsepian S3.


BACKGROUND: Considering that establishment of reference value of nuchal translucency (NT)-related to the crown rump length (CRL) during the first trimester will be helpful for determining an appropriate cutoff level for screening of increased NT thickness-related abnormalities, we determined the NT thickness and investigated its relation with different chromosomal and nonchromosomal abnormalities among a large sample size of pregnant Iranian women. MATERIALS AND METHODS: In this analytic cross-sectional study, pregnant women who were in their first trimester were enrolled at their antenatal visit. Using an abdominal ultrasonography, the fetal NT thickness of the studied population was measured. Those with increased NT thickness were determined. The reference value of NT thickness (5th, 25th, 50th, 75th, and 95th percentiles) within each 5-mm range of CRL and during the 11th, 12th, and 13th gestational weeks were determined. The presences of the different chromosomal and nonchromosomal abnormalities were compared in women with different percentiles of NT thickness who underwent amniocentesis and those who did not. RESULTS: 1,614 pregnant women were evaluated. The mean NT thickness was 1.30 ± 0.54 mm. Increased NT thickness >2 mm and >95th percentile according to their gestational age (GA) was detected in 89 (5.5%) and 58 (3.6%) pregnant women. The reference 95th percentile value range for NT was 1.8-2.35 and increased NT thickness according to our obtained values was associated significantly with chromosomal abnormalities. CONCLUSION: The obtained reference range in our studied population was different from that reported for other ethnic groups and it is suggested that using this values are more favorable for screening of chromosomal abnormalities during the first trimester of pregnancy than the recommended single cutoff value. KEYWORDS: Crown rump length (CRL); nuchal translucency (NL); reference values

PMID 26929762 PMCID: PMC4746871 DOI: 10.4103/1735-1995.172786


Nuchal translucency in normal fetus and its variation with increasing crown rump length (CRL) and gestational age. Karki S, Joshi KS, Tamrakar SR, Regmi S, Khanal K. Kathmandu Univ Med J (KUMJ). 2013 Oct-Dec;11(44):282-6. PMID 24899320 Similar articles Select item 23141162

Distribution of nuchal translucency thickness in Japanese fetuses. Hasegawa J, Nakamura M, Hamada S, Matsuoka R, Ichizuka K, Sekizawa A, Okai T. J Obstet Gynaecol Res. 2013 Apr;39(4):766-9. doi: 10.1111/j.1447-0756.2012.02037.x. PMID 23107008 Similar articles Select item 14966338


[Distribution and normal reference range of fetal nuchal translucency thickness in Kunming pregnant women in the first trimester]. Sun Q, Xu J, Hu SQ, Chen M, Ma RM, Lau TK, Zhang L, Xiao X, Qian Y, Guo Z. Zhonghua Fu Chan Ke Za Zhi. 2012 Jul;47(7):514-7. Chinese. PMID 23141162 Similar articles Select item 23107008


The distribution of fetal nuchal translucency thickness in normal Korean fetuses. Chung JH, Yang JH, Song MJ, Cho JY, Lee YH, Park SY, Moon MJ, Lim HJ, Choi JS, Kim JO, Shin JS, Ahn HK, Han JY, Kim MY, Choi KH, Ryu HM. J Korean Med Sci. 2004 Feb;19(1):32-6. PMID 14966338 Free PMC Article


Relationship between fetal nuchal translucency and crown-rump length in an Asian population. Jou HJ, Wu SC, Li TC, Hsu HC, Tzeng CY, Hsieh FJ. Ultrasound Obstet Gynecol. 2001 Feb;17(2):111-4. PMID 11251917 Free Article Similar articles