Three-dimensional spatiotemporal imaging correlation in the diagnosis of isolated infracardiac total anomalous pulmonary venous connection in fetal life.

Total anomalous pulmonary venous connection (TAPVC) is a critical congenital heart disease which is often missed on prenatal echocardiography because of the decreased pulmonary blood flow in fetal life. Improvement in technology has resulted in increasing prenatal diagnosis of this condition. We report a foetus with infra cardiac TAPVC in whom prenatal diagnosis was facilitated by the use of STIC technology.

Septal defect with polyvalvular involvement: A cardiac imaging hallmark of Trisomy 18.

Congenital Heart Diseases occur in close to 90% of children with Trisomy 18. A ventricular septal defect along with abnormalities of more than one cardiac valve is considered to be an imaging hallmark of Trisomy 18. We present echocardiographic images of an infant with Trisomy 18 who had a large ventricular septal defect and abnormalities of all cardiac valves.

Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.

Disorders of laterality are often associated with complex CHD. There is considerable debate about the appropriate terminology to describe these conditions. As our understanding of the genetic basis of these disorders improves, it is likely that terminology will be dictated by the genetic aetiology.

Peak left atrial longitudinal strain: A potential diagnostic entity in children with multi-inflammatory syndrome in children.

The multi-inflammatory syndrome in children is a poorly understood febrile illness potentially linked to an immune response to COVID-19 infection. The disease is characterized by fever and elevated acute-phase reactants. A number of children with clinical and laboratory evidence of cardiovascular involvement have normal echocardiograms by conventional assessment.

Tricuspid Valve Dysplasia at Fetal Autopsy.

Tricuspid valve abnormalities detected in fetal life include Ebstein anomaly and tricuspid valve dysplasia. The differentiation between these 2 entities can sometimes be challenging in the 2nd trimester fetus. We report a case of tricuspid valve dysplasia diagnosed on fetal autopsy.

Massive parallel sequencing of dried umbilical cord remnants.

Genetic diagnosis depends on having available tissue to test. This can be important for many reasons, such as related to familial diagnosis in the case of another pregnancy. When blood or DNA samples from affected family members are not available, accurate prenatal diagnosis may be much more difficult and hence additional effort may be needed to obtain a genetic diagnosis in such families.