Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation

Pandya, Pranav; Snijders, R. J. M.; Johnson, S.; Brizot, Maria de Lourdes; Nicolaids, Kypros H.

doi:10.1111/j.1471-0528.1995.tb10902.x

Cited by 402 publications

(325 citation statements)

References 15 publications

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“…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 abnor-malities. 7 Thus, sensitivity rates for aneuploidy with a single cutoff of 3.0 mm would be lower at earlier gestational ages, and false-positive rates would be higher at later gestational ages.…”

Section: Reliability Of First-trimester Ultrasonographic Screening Fomentioning

confidence: 99%

“…It must be noted, however, that an abnormal nuchal translucency measurement with a maternal age-related risk of 1 per 100 would reflect a much higher absolute risk of Down syndrome than with an age-related risk of 1 per 1000. 7 Many studies evaluating nuchal translucency screening for Down syndrome, including those performed in the United States, were performed using single cutoffs, without well-defined techniques, and did not consider maternal age. Not surprisingly, wide ranges of sensitivity and falsepositive rates have been described.…”

Section: Reliability Of First-trimester Ultrasonographic Screening Fomentioning

confidence: 99%

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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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Section: Reliability Of First-trimester Ultrasonographic Screening Fomentioning

confidence: 99%

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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“…Cerca de 45% dos casos estudados apresentaram anormalidades cromossômicas, o que está de acordo com Senat et al 32 , embora haja divergência na literatura 6,[17][18][19][20]33 . Essa diferença pode ser explicada pelos diferentes pontos de corte utilizados na classificação de TN aumentada e no fato de que neste estudo as pacientes que optaram pela pesquisa do cariótipo fetal apresentavam a TN em um valor mais elevado (média 5,5).…”

Section: Discussionunclassified

“…A partir do início da década de 1990, vários trabalhos associaram a presença de uma quantidade anormal de fluido na região da nuca fetal, no primeiro trimestre da gestação [translucência nucal (TN) aumentada], com um aumento do risco de cromossomopatias [1][2][3][4][5][6][7][8] . Diferentes mecanismos fisiopatológicos foram propostos para explicar uma TN aumentada no fim do primeiro trimestre da gestação, entre eles as disfunções cardíacas, as anormalidades na matriz extracelular, o desenvolvimento anormal do sistema linfático, as limitações dos movimentos fetais, a anemia fetal ou a hipoproteinemia e as infecções fetais 5,9,10 .…”

Section: Introductionunclassified

“…Posteriormente, a medida da TN no primeiro trimestre da gestação passou a ser utilizada como método de rastreamento para cromossomopatias, podendo identificar cerca de 80% dos fetos acometidos para um falso positivo de 5% [6][7][8]11 . Quando utilizada juntamente com a idade materna e marcadores bioquímicos do primeiro trimestre, tem uma sensibilidade de 90%, passando a 95% quando acrescida da avaliação do osso próprio do nariz, para um falso positivo de 5% [12][13][14] .…”

Section: Introductionunclassified

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Evolução perinatal e pediátrica de crianças com translucência nucal aumentada e cariótipo normal

Vieira¹,

Silva²,

Faria³

et al. 2013

Rev. Bras. Ginecol. Obstet.

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(45,6%). Nos fetos com cariótipo normal, houve um abortamento na 15ª semana gestacional com pentalogia de Cantrel, um óbito na 24ª semana com diversas anomalias estruturais, um óbito neonatal sem causa definida e dois casos de comunicação intraventricular (CIV) detectados no ECO fetal. Na avaliação ecocardiográfica pós-natal, persistiu um caso de CIV e foi diagnosticado um caso de comunicação interatrial (CIA) e persistência do canal arterial (PCA). Entre os 40 casos sobreviventes, apenas 1 criança apresentou atraso no desenvolvimento da fala e outra apresentou quadro de autismo. Os demais casos resultaram em desenvolvimento neuropsicomotor normal. CONCLUSÃO: No acompanhamento dos fetos com TN aumentada e cariótipo normal, os pais podem ser mais bem aconselhados de que, frente a um exame morfológico-ecocardiográfico do 2° trimestre sem alterações, a probabilidade de a criança nascer viva e bem é alta (93,5%). Abstract PURPOSE:To analyze the perinatal and pediatric outcome of fetuses that showed nuchal translucency (NT) above the 95th percentile (P95) and a normal karyotype in order to obtain data allowing better maternal prenatal counseling. METHODS: fetuses from a tertiary obstetric service with an NT above P95 and a normal karyotype were analyzed between 2005 and 2011. We analyzed gestational ultrasound follow-up, fetal and postnatal echocardiography (ECHO), weight, length and Apgar score at birth, and neuropsychomotor development by the Ages and Stages Questionnaire (ASQ) up to July 2012. RESULTS: During this period, there were 116 cases of nuchal translucency above the 95th percentile, and the fetal karyotype was determined in 79 of them (68%). Forty-three analyses were normal (54.4%) and 36 were altered (45.6%). Among the fetuses with a normal karyotype, one was miscarried at 15 weeks of gestation with Cantrel pentalogy and one died at 24 weeks with several structural abnormalities. There was one neonatal death of unknown cause and two cases of intraventricular communication (IVC) detected by fetal ECHO. Postnatal echocardiography revealed the persistence of IVC in one case and one case of atrial septal defect (ASD) and patent ductus arteriosus (PDA). Of the 40 surviving children, only 1 showed delayed speech development and another presented autism. The remaining cases resulted in normal neurodevelopment. CONCLUSION: During the monitoring of fetuses with increased NT and a normal karyotype, parents can be best advised that when a 2 nd trimester morphologicalechocardiography ultrasound study is normal, the probability of the child being born alive and well is high (93.5%).

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Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses

1997

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Pathological examination of the heart and great arteries was performed in 112 chromosomally abnormal fetuses after surgical termination of pregnancy at 11-16 weeks of gestation. The chromosomal abnormalities were diagnosed by chorion villus sampling which was carried out because screening of the pregnancies by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation identified them as being at increased risk. The group consisted of 60 fetuses with trisomy 21, 29 with trisomy 18, 17 with trisomy 13 and 6 with Ullrich-Turner syndrome. The most common cardiac lesion seen in trisomy 21 fetuses was an atrioventricular or ventricular septal defect. Trisomy 18 was associated with ventricular septal defects and/or polyvalvular abnormalities. In trisomy 13, there were atrioventricular or ventricular septal defects, valvular abnormalities, and either narrowing of the isthmus or truncus arteriosus. Ullrich-Turner syndrome was associated with severe narrowing of the whole aortic arch. In all four groups of chromosomally abnormal fetuses, the aortic isthmus was significantly narrower than in normal fetuses and the degree of narrowing was significantly greater in fetuses with high nuchal translucency thickness. It is postulated that narrowing of the aortic isthmus may be the basis of increased nuchal translucency thickness in all four chromosomal abnormalities.

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Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation

Cited by 402 publications

References 15 publications

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

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

Evolução perinatal e pediátrica de crianças com translucência nucal aumentada e cariótipo normal

Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses

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