Nuchal translucency and the heart

2011 ◽  
Author(s):  
Nick Archer ◽  
Nicky Manning
Keyword(s):  
Chromosomal Abnormality ◽  
Nuchal Translucency ◽  
Posterior Aspect ◽  
Increased Risk ◽  
Fetal Karyotype

Introduction 264The nuchal scan 266Management 268Nuchal translucency describes sonolucent tissue in the posterior aspect of the fetal neck; the size can be measured with accuracy during the 1st trimester of pregnancy and an increase in the measurement is associated with an increased risk of chromosomal abnormality. If fetal karyotype is normal: ...

scholarly journals 414: Fetuses with suspected cystic hygroma and nuchal translucency < 3.5mm have increased risk of abnormal outcomes

2011 ◽  
Vol 204 (1) ◽  
pp. S167
Author(s):  
Jessica Scholl ◽  
Chitra Iyer ◽  
Asha Heard ◽  
Jaclyn Coletta ◽  
Britta Panda ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Increased Risk

Practice Tips for Measuring the Nuchal Translucency

Ultrasound ◽  
2008 ◽  
Vol 16 (4) ◽  
pp. 220-225 ◽  
Author(s):  
Debbie Nisbet
Keyword(s):  
Down Syndrome ◽  
Nasal Bone ◽  
Nuchal Translucency ◽  
Operator Technique ◽  
Increased Risk ◽  
Fetal Nasal Bone ◽  
Form Part ◽  
The Uk ◽  
Bone Assessment ◽  
Down Syndrome Screening

In some countries, measurement of nuchal translucency (NT) is incorporated into national antenatal screening programmes to help detect pregnancies at increased risk of Down syndrome. Accurate measurement of the NT requires a specific technique. This article is an illustrated practical guide outlining the steps required for measuring the NT; it provides useful tips for improving operator technique and advises how to avoid common pitfalls. Although fetal nasal bone assessment does not currently form part of official Down syndrome screening programmes (in Australia or the UK), it is included here as debate about its usefulness continues.

OC52: Transabdominal fetal cardiac examination in cases with enlarged nuchal translucency for chromosomal abnormality screening

2007 ◽  
Vol 30 (4) ◽  
pp. 383-383
Author(s):  
M. A. Zoppi ◽  
R. M. Ibba ◽  
C. Axiana ◽  
M. Floris ◽  
F. Manca ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Nuchal Translucency

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Sensitivities of nuchal translucency with different cut-offs for screening chromosomal abnormality in Korean population

2004 ◽  
Vol 191 (6) ◽  
pp. S180
Author(s):  
Jae Hyug Yang ◽  
Min Hyoung Kim ◽  
Jin Hoon Chung ◽  
Hyun Kyong Ahn ◽  
Moon Young Kim ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Nuchal Translucency ◽  
Korean Population

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

2015 ◽  
Vol 146 (1) ◽  
pp. 28-32 ◽  
Author(s):  
Laetitia Gouas ◽  
Stéphan Kémény ◽  
Anne-Marie Beaufrère ◽  
Eléonore Eymard-Pierre ◽  
Céline Pebrel-Richard ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Diagnostic Yield ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Genetic Syndromes ◽  
Pathogenic Variants ◽  
Genome Wide ◽  
Increased Risk ◽  
Structural Abnormalities ◽  
Increased Nuchal Translucency

Fetuses with increased nuchal translucency thickness (NT) are at increased risk for chromosomal abnormalities. In case of a normal karyotype, a minority of them may present with structural abnormalities or genetic syndromes, which may be related to submicroscopic chromosomal imbalances. The objective of this study was to evaluate whether MLPA screening of 21 syndromic and subtelomeric regions could improve the detection rate of small chromosomal aberrations in fetuses with increased NT and a normal karyotype. A total of 106 prenatal samples from fetuses with NT ≥99th centile and normal R- and G-banding were analyzed by MLPA for subtelomeric imbalances (SALSA P036 and P070) and 21 syndromic regions (SALSA P245). One sample showed a benign CNV (dup(8)pter, FBXO25 gene), and 1 patient was found to have a loss of 18qter and a gain of 5pter as a result of an unbalanced translocation. The incidence of cryptic pathogenic variants was <1% or 2.7% when only fetuses with other ultrasound abnormalities were taken into account. Submicroscopic imbalances in fetuses with increased NT may be individually rare, and genome-wide screening seems more likely to improve the diagnostic yield in these fetuses.

First-Trimester Ductus venosus Velocimetry in Relation to Nuchal Translucency Thickness and Fetal Karyotype

2002 ◽  
Vol 17 (1) ◽  
pp. 52-57 ◽  
Author(s):  
Maria A. Zoppi ◽  
Monica Putzolu ◽  
Rosa M. Ibba ◽  
Marcella Floris ◽  
Giovanni Monni
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Fetal Karyotype

scholarly journals First trimester diagnosis of body stalk anomaly complicated by ectopia cordis

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052098021
Author(s):  
Yi Yang ◽  
Hong Wang ◽  
Zhenpeng Wang ◽  
Xuefeng Pan ◽  
Ying Chen
Keyword(s):  
Abdominal Wall ◽  
Umbilical Cord ◽  
Chromosomal Abnormalities ◽  
Abdominal Wall Defect ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ectopia Cordis ◽  
Wall Defect ◽  
Abdominal Organs ◽  
Increased Risk

Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks’ gestation. The scan revealed typical features of body stalk anomaly and EC. Given the lethal condition of the fetus, the patient opted for termination of the pregnancy. Body stalk anomalies, especially those complicated by EC, are universally lethal for the affected fetus. Selective termination should be recommended to avoid possible complications that can arise during pregnancy. Additionally, the future parents should be informed that because the condition is not associated with chromosomal abnormalities, there is no increased risk of recurrence.

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