scholarly journals P04.02: Early diagnosis of congenital heart disease in fetuses with increased nuchal translucency and normal karyotype

2006 ◽  
Vol 28 (4) ◽  
pp. 552-552
Author(s):  
J. M. Martinez ◽  
M. Bennasar ◽  
A. Olivella ◽  
M. del Río ◽  
O. Gómez ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Diagnosis ◽  
Congenital Heart ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

Why increased nuchal translucency is associated with congenital heart disease: a systematic review on genetic mechanisms

2015 ◽  
Vol 35 (6) ◽  
pp. 517-528 ◽  
Author(s):  
Nicole B. Burger ◽  
Mireille N. Bekker ◽  
Christianne J. M. de Groot ◽  
Vincent M. Christoffels ◽  
Monique C. Haak
Keyword(s):  
Systematic Review ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Nuchal Translucency ◽  
Genetic Mechanisms ◽  
Increased Nuchal Translucency

scholarly journals The link between nuchal translucency and congenital heart disease

2013 ◽  
Vol 19 (4) ◽  
pp. 206-211
Author(s):  
C. Ionescu ◽  
Diana Gheorghiu ◽  
Gabriela Iacob ◽  
H. Haradja
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Flow Profile ◽  
Increased Risk ◽  
And Function ◽  
The Relationship ◽  
Increased Nuchal Translucency

Abstract The nuchal translucency is defined as a transient subcutaneous collection of fluid behind the fetal neck seen on ultrasonography at 11-14 weeks of gestation. In this current overview it was observed the relationship between increased nuchal translucency (NT) and fetal heart structure and function in chromosomally normal fetuses. Fetuses with an increases NT have an increased risk for congenital heart disease (CHD) and the combination between an increases NT, tricuspid regurgitation (TR) and an abnormal ductus venosus (DV) Doppler flow profile is a strong marker for CHD.

Early Diagnosis of Congenital Heart Disease: When and How to Treat

Neonatology ◽  
2018 ◽  
pp. 1-13
Author(s):  
Francesca R. Pluchinotta ◽  
Luciane Piazza ◽  
Angelo Micheletti ◽  
Javier Fernandez Sarabia ◽  
Diana Negura ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Diagnosis ◽  
Congenital Heart

Abstract 16738: Association Between First and Second Trimester Maternal Screening Biochemistry, Ultrasound, and Fetal Brain Growth in Presence of Fetal or Maternal Congenital Heart Disease

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Aman Sharma ◽  
Emma Lewis ◽  
Gabrielle Gray ◽  
Jennifer R Maldonado ◽  
Diana L Knoedel ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Fetal Brain ◽  
Nuchal Translucency ◽  
Second Trimester ◽  
Fetal Head ◽  
Placental Dysfunction ◽  
Z Scores ◽  
Hormonal Levels

Introduction: Newer research has highlighted significant neurological impairments in children and adults with congenital heart disease (CHD). The more severe the heart defect, the higher the neurologic impairment. Pregnancies complicated by fetal or maternal CHD carry a higher risk of placental abnormalities. We studied the association between pregnancy hormonal levels and fetal head and body growth. Hypothesis: Placental dysfunction in pregnancies with fetal or maternal CHD alters pregnancy hormonal levels affecting fetal brain and somatic growth. Methods: We performed a retrospective case-control study on pregnant women (year 2010-2019) at the University of Iowa. Only women with first and/or second trimester prenatal screening (ultrasound and blood test) were included. Pregnancies with fetal chromosomal abnormalities, multiple gestation, maternal diabetes, smoking, or hypertension were excluded. Pregnancies were either healthy controls (n=36), women with CHD (MCHD; n=26), or fetus with CHD (FCHD; n=23). Pregnancy hormonal levels, ultrasound findings, and fetal/neonatal growth percentiles and/or z-scores data were analyzed. Results: Women with CHD were younger (p=0.004) with increased fetal nuchal translucency (p=0.003) compared to controls. Women in MCHD (p=0.02) and FCHD (p=0.02) group delivered earlier than controls. FCHD had significantly lower pregnancy associated plasma protein-A (PAPP-A) levels than controls (p=0.04). The groups had no difference in the second trimester fetal head circumference (HC) and femur length. FCHD group had significantly smaller HC percentile (p=0.03) and z-scores (p=0.03) at birth than controls. Both FCHD and MCHD had smaller birth weight and length compared to controls. However, only FCHD group demonstrated significantly lower HC to birth weight ratio (p=0.01). The controls had a positive correlation between human chorionic gonadotropin level and head circumference z-score at birth (r=0.34;p=0.053). Conclusions: Pregnant women with CHD have increased fetal nuchal translucency and deliver at earlier gestational age. Women with fetal CHD have smaller neonatal head and body size at birth with associated low PAPP-A level early in their pregnancy probably related to placental dysfunction.

Nuchal Translucency and the Risk of Congenital Heart Disease

2007 ◽  
Vol 109 (6) ◽  
pp. 1455-1456 ◽  
Author(s):  
Jon Hyett ◽  
Jiri Sonek ◽  
Kypros Nicolaides
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Nuchal Translucency

scholarly journals Universal Pulse Oximetry Screening for Early Detection of Critical Congenital Heart Disease

2016 ◽  
Vol 10 ◽  
pp. CMPed.S33086 ◽  
Author(s):  
Praveen Kumar
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Detection ◽  
Early Diagnosis ◽  
Pulse Oximetry ◽  
Congenital Heart ◽  
Developed Countries ◽  
The United States ◽  
Critical Congenital Heart Disease ◽  
Pulse Oximetry Screening

Critical congenital heart disease (CCHD) is a major cause of infant death and morbidity worldwide. An early diagnosis and timely intervention can significantly reduce the likelihood of an adverse outcome. However, studies from the United States and other developed countries have shown that as many as 30%–50% of infants with CCHD are discharged after birth without being identified. This diagnostic gap is likely to be even higher in low-resource countries. Several large randomized trials have shown that the use of universal pulse-oximetry screening (POS) at the time of discharge from birth hospital can help in early diagnosis of these infants. The objective of this review is to share data to show that the use of POS for early detection of CCHD meets the criteria necessary for inclusion to the universal newborn screening panel and could be adopted worldwide.

scholarly journals Long-term survival in patients with isolated pulmonary valve stenosis: a not so benign disease?

Open Heart ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. e001836
Author(s):  
Kristofer Skoglund ◽  
Annika Rosengren ◽  
Georgios Lappas ◽  
Maria Fedchenko ◽  
Zacharias Mandalenakis
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Diagnosis ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Survival Rates ◽  
Pulmonary Valve Stenosis ◽  
Term Survival ◽  
Risk Of Mortality

Background and objectivesDuring the last decades, the survival rates in patients with congenital heart disease have increased dramatically, particularly in patients with complex heart malformations. However, the survival in patients with simple defects is still unknown. We aimed to determine the characteristics and the risk of mortality in patients with isolated pulmonary valve stenosis (PS).MethodsSwedish inpatient, outpatient and cause of death registries were used to identify patients born between 1970 and 2017 with a diagnosis of PS, without any other concomitant congenital heart lesion. For each patient with PS, 10 control individuals without congenital heart disease were matched by birth year and sex from the total population registry. We used median-unbiased method and Kaplan-Meier survival analysis to examine the risk of mortality.ResultsWe included 3910 patients with PS and 38 770 matched controls. The median age of diagnosis of PS was 0.7 years (IQR 0.3–7.0). During a median follow-up of 13.5 years (IQR 6.5–23.5), 88 patients with PS and 192 controls died; 500 patients with PS (12%) underwent at least one transcatheter or surgical valve intervention. The overall mortality rate was significantly higher in patients with PS compared with matched controls (HR 4.67, 95% CI 3.61 to 5.99, p=0.001). Patients with an early diagnosis of PS (0–1 year) had the highest risk of mortality (HR 10.99, 95% CI 7.84 to 15.45).ConclusionsIn this nationwide, register-based cohort study, we found that the risk of mortality in patients with PS is almost five times higher compared with matched controls. Patients with an early diagnosis of PS appears to be the most vulnerable group and the regular follow-up in tertiary congenital heart units may be the key to prevention.

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