Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Saldanha, Fátima Aparecida Targino; Brizot, Maria de Lourdes; Moraes, Edécio Armbruster de; Lopes, Lílian Maria; Zugaib, Marcelo

doi:10.1590/s0104-42302009000500022

Cited by 6 publications

(7 citation statements)

References 8 publications

(12 reference statements)

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“…Structural malformations were identified in 12.8% fetuses and cardiac malformations being predominant ones in our cohort consistent with other studies. 8 25 28 Structural malformations on follow-up scans were significantly increased ( p = 0.033) in group II as compared with group I. There are limited studies that report increased structural defects in NT values 95th to 99th.…”

Section: Discussionmentioning

confidence: 91%

“…Neither of these two syndromes are previously reported to be associated with increased NT. 6,8,24,25,27,28 Noninvasive prenatal screening with cell-free fetal DNA evaluation for common aneuploidies is recommended in NT between the 95th and 99th centile. [38][39][40] However, other studies proposed that NIPT should not be recommended as an alternative to invasive diagnostic testing in fetuses with ultrasound anomalies including increased NT.…”

Section: Discussionmentioning

confidence: 99%

“…Neither of these two syndromes are previously reported to be associated with increased NT. 6 8 24 25 27 28…”

Section: Discussionmentioning

confidence: 99%

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The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center

Khatter

Lall

Agrawal

et al. 2023

Journal of Fetal Medicine

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Objectives The aim of this study was to determine the chromosomal abnormalities and other adverse outcomes like miscarriages, intrauterine deaths, structural defects, and genetic syndromes in fetuses with increased nuchal translucency (NT) more than or equal to 95th centile. This study also compared the outcomes in fetuses with NT between 95th and 99th centile and more than 99th centile. Study Design A prospective cohort of 182 patients with isolated increased NT was evaluated by invasive testing. Fetal chromosomes were examined by fluorescent in situ hybridization and karyotype or chromosomal microarray. Euploid pregnancies were followed-up with level II ultrasound and fetal echocardiography. For pregnancies progressing to delivery, the neonates were followed-up till the age of 3 months. Final outcome was reported as normal or abnormal. Collated data for perinatal outcomes was analyzed and compared between fetuses with NT 95th and 99th centile (group I) and NT more than 99th centile (group II). Results Of the 202 patients recruited, 182 patients consented for invasive testing and chromosomal analysis. Of the 182 patients, group I (NT 95–99th centile) included 92 patients and group II 90 patients. Chromosomal abnormalities were present in 50 (27.4%), 14 (7.6%) in group I, and 36 (19.4%) in group II. Of the 132 euploid pregnancies, adverse outcomes were present in 22 (16%) fetuses, 7 (5.3%) in group I, and 15(11.7%) in group II. A normal outcome was present in 110 (60.4%) pregnancies of the 182 fetuses with NT more than or equal to 95th centile. Normal outcome observed in group I was 77.1% and in group II, it was 43.4%. Conclusion An increased NT is associated with poor perinatal outcomes in 39.6% patients. Chromosomal analysis and follow-up for adverse outcome in fetuses with NT more than or equal to 95th centile is important to enable a take home neonatal rate of 60.4%. No pregnancy with increased NT should be discontinued without detailed fetal evaluation for genetic disorders, structural malformation, and fetal growth.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

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The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center

Khatter

Lall

Agrawal

et al. 2023

Journal of Fetal Medicine

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“…Quantitative studies have focused on live-born babies with an increased NT, normal karyotype, and normal ultrasound scans. [13] Despite several studies, there is still uncertainty and concern about the implications of increased NT in fetuses. This causes anxiety in parents.…”

Section: Introductionmentioning

confidence: 99%

Prenatal and postnatal echocardiography in NT fetuses with normal karyotype

Emami-moghaddam

Barati

Amirpour

et al. 2019

J Family Med Prim Care

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“…There is growing evidence that increased NT thickness during the first trimester of pregnancy in a chromosomally normal fetus is associated with numerous fetal structural abnormalities, genetic syndromes, heart defects, and poor perinatal outcomes such as miscarriage and intrauterine death. [ 3 4 5 ]…”

Section: Introductionmentioning

confidence: 99%

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

Sharifzadeh¹,

Adibi²,

Kazemi³

et al. 2015

J Res Med Sci

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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.

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Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal

Cited by 6 publications

References 8 publications

The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center

The Impact of Isolated Increased Nuchal Translucency ≥95th Centile on Perinatal Outcome: A Prospective Cohort Study from a North Indian Genetic Center

Prenatal and postnatal echocardiography in NT fetuses with normal karyotype

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

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