I. C. Huggon

Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan

To determine the likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6‐week scan.

Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency

Objective To determine the value of early ultrasound examination for prenatal diagnosis of cardiac defects in chromosomally normal fetuses with increased nuchal translucency thickness at 10–14 weeks of gestation.

Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype

To define the prevalence of major cardiac defects according to nuchal translucency (NT) thickness at the 11 to 13 + 6‐week scan in fetuses with normal karyotype.

Atrioventricular septal defects diagnosed in fetal life: Associated cardiac and extra-cardiac abnormalities and outcome

OBJECTIVES We sought to establish the outlook for fetuses diagnosed with atrioventricular septal defect (AVSD) prenatally and its relation to additional cardiac, extracardiac and chromosomal abnormalities. BACKGROUND Prediction of likely outcome of AVSD presenting prenatally is complicated by the wide variation in associated features. METHODS Computerized records from 14,726 pregnancies referred to a fetal cardiology center were reviewed retrospectively. Pathological reports, postnatal records, follow-up inquiries and review of echocardiographic video recordings supplemented analysis of the records for all those with AVSD. RESULTS Atrioventricular septal defect was confirmed in 301 fetuses. Eighty-six (39%) of the 218 with known karyotype had trisomy 21, and 21/218 (10%) had other chromosome abnormalities. Right isomerism occurred in 37/301 (12%) fetuses, left isomerism in 62 (20%), mirror image atrial arrangement in 2 (1%), and 200 (67%) had usual arrangement. Atrioventricular septal defect occurred without any other intracardiac abnormality in 155 fetuses (51%). Extracardiac abnormalities and nonkaryotypic syndromes were evident in 40 fetuses (13%, confidence interval [CI] 9.5-17.1%). Uncomplicated cardiac anatomy was significantly associated with the presence of karyotype abnormality (p < 0.0001). Parents opted for termination of pregnancy in 175/298 (58.5%). For the continuing pregnancies, Kaplan-Meier estimates for live birth, survival past the neonatal period and survival to three years were 82% (CI 75.3-88.9%), 55% (CI 46.0%-0/64.3%) and 38% (CI 27.1-48.6%), respectively. Fetal hydrops and earlier year of diagnosis were independent variables with adverse influence on survival. CONCLUSIONS Despite some improvements in the outlook for AVSD diagnosed prenatally, the overall prognosis remains considerably poorer than that implied from surgical series. The detection of associated cardiac and extracardiac abnormalities is important in order to give the best indication of the likely outcome when counseling parents.

Right aortic arch in the fetus

To examine our experience of the detection of a right aortic arch in the fetus over an 8‐year period.

Doppler assessment of cardiac function at 11-14 weeks' gestation in fetuses with normal and increased nuchal translucency.

To investigate cardiac dysfunction as a potential underlying mechanism for increased nuchal translucency (NT) in fetuses with chromosomal abnormality or heart defects.

Effect of introducing balloon dilation of native aortic coarctation on overall outcome in infants and children

The outcome of 40 consecutive newborns and children with normal cardiac connections presenting with unoperated (i.e., no previous surgical or balloon dilation treatment) aortic coarctation since the introduction of balloon dilation as a treatment option (group A) was compared retrospectively with that of a similar cohort of 38 patients (group B) presenting in the period immediately before the introduction of balloon dilation. Group A consisted of 18 newborns (< 30 days) and 22 children and Group B consisted of 20 newborns and 18 children. In group A, 30 patients had balloon dilation but 10 underwent surgery because of parental preference, unfavorable anatomy or for logistic reasons. Group B had conventional surgical repair by various methods. All patients were followed up clinically by Doppler echocardiography and, when possible, by magnetic resonance imaging. Repeat cardiac catheterization was only performed in those with suspected recoarctation. Survival and freedom from reintervention were investigated using Kaplan-Meier analysis. Patients of all ages in group A and those who had balloon dilation were at higher risk for reintervention (25 and 30%, respectively, at 1 year) than those in group B or those who had surgery (20 and 18%, respectively, at 1 year). Mortality was not significantly different between groups A and B, but there were 2 neonatal deaths directly attributable to the dilation procedure. Two patients developed aneurysms after dilation. Balloon dilation is an effective treatment for unoperated coarctation, but the recoarctation rate appears to be higher than for surgery.

Tetralogy of Fallot in the fetus in the current era

To compare the spectrum of tetralogy of Fallot detected recently in fetal life with that in previous reports of prenatal and postnatal experience.

Aberrant right subclavian artery at 11 + 0 to 13 + 6 weeks of gestation in chromosomally normal and abnormal fetuses.

To establish the feasibility of examining the subclavian artery at 11 + 0 to 13 + 6 weeks of gestation, and to determine the prevalence of aberrant right subclavian artery (ARSA) in chromosomally normal and chromosomally abnormal fetuses.

Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut

Human GATA-6 has been cloned from foetal heart by a combination of PCR-based methods and cDNA library screening. The 3.8 kbp cDNA has a coding sequence of 1347 bp the 449 aa protein is virtually identical in the two zinc-finger binding domains to other human GATA sequences, but varies considerably in the amino and carboxy terminal regions. The sequence shows greatest similarity to GATA-6-like sequences from rat, mouse, chicken and Xenopus. Northern analysis and in situ hybridisation show that GATA-6 is expressed at high levels in human adult and foetal heart as well as in gut derivatives. It is postulated that GATA-6, in concert with GATA-4, plays a crucial role in the regulation of cardiac differentiation.