Clinical implementation of first trimester screening for congenital heart defects.

Objective: To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan.

Method: A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel trachea view with color Doppler was implemented as part of the routine first-trimester scan.

The future demand of renewable fuels in Germany: Understanding the impact of electrification levels and socio-economic developments.

The Climate Change Act recently enacted in Germany highlights the urgency of understanding the future demand for renewable fuels. In this study, we combine technological progress and socio-economic pathways in an energy system analysis to assess future renewable fuel demands in Germany. We apply the whole-system optimisation model, TIMES, to investigate transition pathways with varying electrification levels and socio-economic developments.

Prevalence and detection rate of major congenital heart disease in twin pregnancies in Denmark.

Objective: To investigate the national prevalence and prenatal detection rate (DR) of major congenital heart disease (mCHD) in twin pregnancies without twin-to-twin transfusion syndrome (TTTS)-associated CHD in a Danish population following a standardized prenatal screening program.

Methods: This was a national registry-based study of data collected prospectively over a 10-year period. In Denmark, all women with a twin pregnancy are offered standardized screening and surveillance programs in addition to first- and second-trimester screening for aneuploidies and malformation, respectively: monochorionic (MC) twins every 2 weeks from gestational week 15 and dichorionic (DC) twins every 4 weeks from week 18.

[Diagnosis and treatment of a multisystemic disorder in children called congenital portosystemic shunts].

Congenital portosystemic shunts (CPSS) are rare malformations, which connect the portal venous system and the systemic circulation. The disorder is discovered at prenatal screening, neonatal cholestasis as an incidental finding or by systemic complications such as pulmonary hypertension, encephalopathies or liver nodules. CPSS are associated to cardiac malformations and several syndromes.

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity.