Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.

Brady, Anne Marie; Pandya, P.; Yüksel, B.; Greenough, Anne; Patton, Michael A.; Nicolaides, Kypros H.

doi:10.1136/jmg.35.3.222

Cited by 86 publications

(72 citation statements)

References 20 publications

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“…In chromosomally normal fetuses, increased NT is associated with a wide range of fetal defects and genetic syndromes 5,12 . In addition, increased NT may also be a marker that predicts postnatal outcome.…”

Section: Discussionmentioning

confidence: 99%

Increased first‐trimester nuchal translucency as a prenatal manifestation of salt‐wasting congenital adrenal hyperplasia

Fincham

Pandya

Yüksel

et al. 2002

Ultrasound in Obstet & Gyne

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Section: Discussionmentioning

confidence: 99%

Increased first‐trimester nuchal translucency as a prenatal manifestation of salt‐wasting congenital adrenal hyperplasia

Fincham

Pandya

Yüksel

et al. 2002

Ultrasound in Obstet & Gyne

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“…As genetic syndromes are diagnosed in around 5% of the fetuses, additional investigations should be considered (Bilardo et al, 2007). Noonan syndrome is the most frequently reported genetic syndrome in association with an increased NT, with a prenatal incidence ranging between 1 and 3% (Brady et al, 1998;Souka et al, 1998;Hiippala et al, 2001).…”

Section: Discussionmentioning

confidence: 99%

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

et al. 2011

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Objective To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing.Methods We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographic features of Noonan syndrome fetuses. Information was pooled to define the most common features.Results In our database, we identified three cases of Noonan syndrome. The diagnosis was suspected prenatally in two of them. Thirty-nine cases were identified in the literature. In the presented cases we show that suspicion of Noonan syndrome should arise when, after an increased nuchal translucency, ultrasound investigation in the second trimester shows a persistant nuchal fold (NF) or cystic hygroma in combination with at least one of the following features: hydrops fetalis, pleural effusion, cardiac anomalies, polyhydramnios or specific facial abnormalities. ConclusionPrenatal ultrasound findings in Noonan syndrome can be subtle and aspecific, but when specific characteristics are present additional targeted DNA analysis is indicated.

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“…Choice a fetal NT cut-off point to define an increased fetal NT thickness is very important in the prenatal care program because when NT levels increase, the chance that healthy baby will be decrease [19,21,22]. Many studies reported: the threshold of fixed 2.5mm cut-off point and 95th percentile depending cut-off were used effectively as an increased fetal NT thickness for screening trisomy 21 with the varied detection rate from 75% to 91% and the varied false positive rate from 1% to 5.4% [6,14,16,17,23,24].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai¹,

Schaaps²

2012

Gynecol Obstet

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Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was used to diagnose trisomy 21. In each 4 approaches screening (the isolated maternal age, the maternal age and fetal NT thickness, maternal age and biochemistry, and combined test), the detection rate and false positive rate of trisomy 21 were calculated to find out the most effective screening method.Results: Followed up 2500 singleton pregnancies, the incidence of trisomy 21 was 0.6% (16/2500) (95%CI 0.4-1.0%). The absence of nasal bone and poly-malformation were the essential ultrasonographic findings of Down's syndrome. An increased fetal NT (≥ 2.4 mm) related significantly to this aneuploidy (OR=58.6, 95%CI 17.3-251, p < 0.0001). In comparison of 4 approaches screening, the most possibility of Down's syndrome detection was the combined test (87.5% of sensitivity for 2.6% of false positive rate). Conclusion:The combined test was effectively screening method for Down syndrome in Vietnamese pregnancies.

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Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.

Cited by 86 publications

References 20 publications

Increased first‐trimester nuchal translucency as a prenatal manifestation of salt‐wasting congenital adrenal hyperplasia

Increased first‐trimester nuchal translucency as a prenatal manifestation of salt‐wasting congenital adrenal hyperplasia

Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

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