Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study.

The total uptake of prenatal aneuploidy screening for Down syndrome (DS) is increasing worldwide. As a result of increasing prenatal diagnosis of DS and subsequent termination of pregnancy, livebirth prevalence of DS is decreasing. The aim of this study is to explore the impact of an increasing uptake of prenatal aneuploidy screening on the neonatal mortality and morbidity in DS. This is a retrospective cohort study of 253 neonates with DS born between 2012 and 2018 that were seen at the outpatient clinic of five hospitals in the Netherlands. The medical files were reviewed for maternal and neonatal characteristics and neonatal morbidities. The Dutch national birth registry (Perined) provided mortality numbers of neonates with DS. The results were interpreted in the context of other published studies. Neonatal mortality in DS remained stable, ranging from 1.4 to 3.6%. A congenital heart defect (CHD) was found in 138 of the 251 neonates (55.0%) with atrial septal defect, atrioventricular septal defect, and ventricular septal defect being the most common. The type of CHD in DS did not change over time. Gastro-intestinal defects were present in 22 of the 252 neonates with DS (8.7%), with duodenal atresia as the most reported anomaly. Persistent pulmonary hypertension of the neonate (PPHN) was found in 31 of the 251 infants (12.4%).  Conclusions: Although uptake of prenatal aneuploidy screening increased, neonatal mortality and morbidity in DS appears to be stable. An increased incidence of PPHN was found. What is Known: • The total uptake of prenatal aneuploidy screening for Down syndrome is increasing worldwide. • As a result of increasing prenatal diagnosis of Down syndrome and subsequent termination of pregnancy, the livebirth prevalence of Down syndrome is decreasing. What is New: • Although uptake of prenatal aneuploidy screening increased, neonatal mortality and morbidity in Down syndrome appears to be stable. • An increased incidence of persistent pulmonary hypertension of the neonate was found.

[New insights into the support of children with Down syndrome]. / Nieuwe inzichten voor de begeleiding van kinderen met het syndroom van Down.

The prevalence of Down syndrome (DS) in the Netherlands is 14/10,000 live births; this is almost 1.5 times higher than during the 1980s and 90 s. In the Netherlands the uptake of prenatal screening is lower than in the rest of Europe and the percentage of pregnant women > 36 years has increased. The early diagnosis and treatment of congenital heart abnormalities means that mortality among DS children has fallen. Although their life expectancy has increased greatly, other comorbidities have come to the fore. Wheezing is reported in 1/3 of the children with DS; it seems unrelated to asthma and atopy. The percentage of mothers who start breastfeeding a child with Down syndrome is low (48%), despite the preventive effect on celiac disease and infections and its therapeutic value for speech and language development. Children with DS score lower on quality of life for the domains of lung and stomach problems, motor function and communication. Medical support and screening addressing specific comorbidities (heart, thyroid, lungs, hearing, vision) and special support for cognitive, motor and speech development in children with Down syndrome is worthwhile.

Detection of respiratory pathogens by real-time PCR in children with clinical suspicion of pertussis.

The use of a multiplex respiratory real-time PCR in patients clinically suspected of pertussis increases the number of pathogens detected.