Visualization of the arterial valve morphology and number of leaflets in a fetus with common arterial trunk by spatiotemporal image correlation imaging.

Spatiotemporal imaging correlation (STIC) technology has been employed to visualize the fetal heart for close to two decades, but the additional value of the technology remains debatable. The value of the technology in identifying the morphology of the cardiac valves is being recognized. We report a 21-week gestational age fetus with common arterial trunk where STIC imaging enabled us to identify a bicuspid arterial valve.

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.

Heterotaxy - Res ipsos loquitur.

The essence of so-called heterotaxy is the potential disharmony between the arrangement of the bronchuses, abdominal organs, and the atrial appendages. Accurate description of the heart, however, can only be provided by specific description of these features, all of which are readily discernible in the clinical setting. We argue that, when accurate description of the atrial and visceral arrangement is provided, along with appropriate description of the intracardiac findings, no further accuracy is gained by suggesting that an individual heart is "heterotaxic".

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.