Pregnancy Termination and Postnatal Major Congenital Heart Defect Prevalence After Introduction of Prenatal Cardiac Screening.

Importance: Prenatal cardiac screening of the first and second trimesters has had a major impact on postnatal prevalence of congenital heart defects (CHDs), rates of termination of pregnancy (TOP), and outcomes among children born alive with CHDs.

Objective: To examine the prenatal and postnatal incidence of major CHDs (ie, necessitating intervention within the first year of life), detection rate trends, rates of TOP, and the association of cardiac screening with postnatal outcomes.

Design, Settings, And Participants: In this cross-sectional study, 3827 fetuses with antenatally diagnosed major CHDs in the Czech Republic (population 10.

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.

We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated.

Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype.

Objective: Noonan syndrome (NS), one of the most common RASopathies, has an estimated incidence of 1 in 1,000-2,500 live births. In the prenatal period increased nuchal translucency, hygroma colli, hydrops fetus, congenital heart disease, kidney defects, larger amount of amniotic fluid can be observed in affected fetuses with this syndrome. In the fetuses with normal karyotype and no microdeletion/microduplication syndromes the examination of selected genes for RASopathies was added.

Noonan syndrome from a fetopathologist perspective.

We present our experience with four cases of fetal autopsies with abnormal prenatal ultrasound findings and suspicion of Noonan syndrome. These were fetuses from the 17th to the 24th age of gestation (GA). In all cases, prenatal ultrasound examination recorded increased nuchal translucency (NT) and presence of lymphatic neck sacs.

Does First-Trimester Screening Modify the Natural History of Congenital Heart Disease? Analysis of Outcome of Regional Cardiac Screening at 2 Different Time Periods.

Background: The study analyzed the impact of first-trimester screening on the spectrum of congenital heart defects (CHDs) later in pregnancy and on the outcome of fetuses and children born alive with a CHD.

Methods: The spectrum of CHDs, associated comorbidities, and outcome of fetuses, either diagnosed with a CHD in the first trimester (Group I, 127 fetuses) or only in the second-trimester screening (Group II, 344 fetuses), were analyzed retrospectively between 2007 and 2013. Second-trimester fetuses diagnosed with a CHD between 2007 and 2013 were also compared with Group III (532 fetuses diagnosed with a CHD in the second trimester from 1996 to 2001, the period before first-trimester screening was introduced).