Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.

Nicolaides, Kypros H.; Azar, Ghassan; Byrne, Dominic; Mansur, Carlos A.; Marks, Keith H

doi:10.1136/bmj.304.6831.867

Cited by 938 publications

(658 citation statements)

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“…NT itself is a finding inherent in all fetuses and is not necessarily an abnormal finding. The relationship between increased NT and chromosomal abnormalities was first reported by Nicolaides et al (1992). Since then, the relationship with diseases other than chromosomal abnormalities, such as cardiac, genetic, and urinary system diseases has been described in various reports (Nicolaides et al 1992;Souka et al 2005;Westin et al 2006).…”

Section: Introductionmentioning

confidence: 99%

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

et al. 2008

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The results of a chromosomal test by genetic amniocentesis in 58 cases with an increased nuchal translucency (NT; C3 mm thickness) revealed 47 cases showing a normal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However, the cases of a normal karyotype with increased NT also included those with fetal abnormalities. Among the 49 cases in which NT was observed during the first trimester and then subsequently disappeared, chromosomal abnormalities were observed in five, and fetal abnormalities other than chromosomal abnormalities were observed in two. Meanwhile, all nine cases in which an increased NT remained or in which NT continued to increase in size during the second trimester were diagnosed as having cystic hygroma, and chromosomal abnormalities were found in six cases (67%). It should be noted that the shape of increased NT includes NT with a notch (notched NT) and NT without a notch (smooth NT). Among the 20 cases of notched NT, chromosomal abnormalities were observed in eight (40%), and cystic hygroma was observed in nine (45%). On the other hand, among the 38 cases of smooth NT, chromosomal abnormalities were observed in three (7.9%), but no cystic hygroma was observed. Our results confirm that increased NT does not always indicate a fetal abnormality. Whether NT thickness should be measured as a screening tool for fetal abnormalities remains controversial. However, increased NT may be detected by chance, because a maternal-fetal medical examination using ultrasonography is usually performed in Japan. It is therefore considered to be extremely important to establish a system in which cases are referred to obstetricians who are licensed clinical genetic specialists to obtain appropriate genetic counseling whenever increased NT is clinically observed.

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Section: Introductionmentioning

confidence: 99%

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

et al. 2008

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“…Although this is a useful second-trimester marker for Down syndrome, only approximately 20% to 30% of fetuses with Down syndrome will have increased nuchal skin fold thickness. 4 Nicolaides et al 5 described an association with first-trimester nuchal edema and aneuploidy in 1992. Subsequently, numerous studies described increased nuchal translucency in most fetuses with Down syndrome and other forms of aneuploidy between 10 and 14 weeks.…”

Section: Reliability Of First-trimester Ultrasonographic Screening Fomentioning

confidence: 99%

Prenatal informed consent for sonogram: the time for first‐trimester nuchal translucency has come.

Chasen¹,

Skupski²,

McCullough³

et al. 2001

J of Ultrasound Medicine

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ltrasonographic screening in pregnancy has been and continues to be a matter of controversy. For the past 20 years, second-trimester ultrasonographic screening has been debated. Even today, the American College of Obstetricians and Gynecologists does not endorse this as a standard of care. Nonetheless, secondtrimester ultrasonography is widely offered. In 1989, two of us (F.A.C. and L.B.M.) made the argument that "the standard of care demands that prenatal informed consent for sonogram be accepted as an indication for the prudent use of obstetric ultrasonography performed by qualified personnel." 1 The purpose of this editorial is to extend that argument to first-trimester ultrasonographic screening for aneuploidy using nuchal translucency determination. Reliability of First-Trimester Ultrasonographic Screening for AneuploidyThe term nuchal translucency refers to the ultrasonographic measurement of nuchal skin late in the first trimester. A specific feature of neonates with Down syndrome is redundant nuchal skin. This has also been noted with other autosomal trisomies as well as Turner syndrome. 2 Nuchal edema occurs in the fetus as well, and varying degrees of this are visible ultrasonographically. These range from slight thickening of nuchal skin to cystic hygromas, which are congenital malformations in which dilated lymphatic channels form a soft tissue mass, typically in the posterior neck.Benacerraf et al 3 reported an association between increased nuchal skin fold thickness in the second trimester and Down syndrome in 1985. Although this is a useful second-trimester marker for Down syndrome, only approximately 20% to 30% of fetuses with Down syndrome will have increased nuchal skin fold thickness. 4 Nicolaides et al 5 described an association with first-trimester nuchal edema and aneuploidy in 1992. Subsequently, numerous studies described increased nuchal translucency in most fetuses with Down syndrome and other forms of aneuploidy between 10 and 14 weeks. Most early studies defined increased nuchal translucency using a single cutoff, usually 3.0 mm. 6 A problem with using a single cutoff in defining abnormal nuchal translucency is the fact that nuchal translucency increases with gestational age in fetuses without abnorAbbreviations CVS, chorionic villus sampling; FMF, Fetal Medicine Foundation

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“…In the 1990s, it was realized that this excess skin may be the consequence of excessive accumulation of subcutaneous fluid behind the fetal neck which could be visualized by ultrasonography as increased NT in the third month of intrauterine life (Nicolaides et al, 1992a).…”

Section: Screening By Fetal Nt Thicknessmentioning

confidence: 99%

Aneuploidy and Anomaly Screening

Elkady¹,

Dawlatly²,

Ahmed³

et al. 2017

Mastering Single Best Answer Questions for the Part 2 MRCOG Examination

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Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.

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Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.

Abstract: Objective-To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype.Design-Prospective screening study. Setting-The

Cited by 938 publications

References 10 publications

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

Prenatal informed consent for sonogram: the time for first‐trimester nuchal translucency has come.

Aneuploidy and Anomaly Screening

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