Timing of detection of anencephaly in The Netherlands

Abstract

Improving detection of anencephaly in the first trimester requires ultrasound screening at or after 11 weeks of gestation, performed by experienced sonographers trained in recognizing fetal anomalies. Sonographers should be instructed that the goal of the first trimester scan is not only to measure nuchal translucency thickness but also to exclude major anomalies.

Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands

“…attributed geographical variations to ethnic differences as well as to a higher genetic predisposition in the North East. Our study shows that, in the North West, more cases are detected in the first trimester, most likely because uptake of first‐trimester screening is higher in this area and early scans are often performed by sonographers who are trained to recognize features of anomalies at an early stage of development. Most of the cases detected in the first trimester had additional major anomalies and were terminated.…”

Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

“…In the North‐West region, early detection and termination rates are higher than in the North‐East region. This reflects the lower uptake of first trimester screening and reluctance towards termination of pregnancy in the North‐East area . As a consequence, the neonatal death rate is slightly higher in the North‐East region.…”

“…Cases from the three provinces in the Northeast were used to examine prevalence, as all cases from this area were included in the study and the number of births (including stillbirths) for this area is available from Statistics Netherlands. 24 The findings of this study were compared to two other Dutch studies reporting on pregnancy and infant outcome of cases where a gastroschisis or exomphalos was diagnosed, prior to 2007. 16,17…”

“…Cases from the three provinces in the Northeast were used to examine prevalence, as all cases from this area were included in the study and the number of births (including stillbirths) for this area is available from Statistics Netherlands …”

Sonographic detection of central nervous system defects in the first trimester of pregnancy

“…Although the abnormal brain may be the most striking sign, the primary marker of acrania is the absence of the skull bones, which should be ossified after 11 weeks' gestation. Although the prenatal detection rate of anencephaly is nearly 100%, a recent study has shown that, in the Netherlands, only about 69% are diagnosed before 18 weeks of gestation and that this was strongly related to sonographer training . However, even trained and accredited sonographers only reached an 86% detection rate, partly because some ultrasounds were performed prior to 11 weeks' gestation, thereby making assessment of skull ossification difficult.…”