Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Background Current pathways for testing fetuses at increased risk of a chromosomal
anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy …

Objectives The aim of this study was to investigate the incidence of congenital lung
malformations over the past 19 years. Congenital lung malformations (CLM) are a …

Objectives To describe the epidemiology and geographical differences in prevalence of
congenital cerebral anomalies in Europe. Design and setting Congenital cerebral anomalies …

Objective To produce comprehensive community based data on individuals with intellectual
handicap, thé level of retardation, associated handicaps and demographic data. Design …

MURCS in a male? Page 1 1 JMed Genet 1995;32:314-315 MURCS in a male? Diana G
Wellesley, Sarah F Slaney Abstract A man with Klippel-Feil deformity, unilateral renal …

Prenatal array comparative genome hybridisation (aCGH) testing has by and large replaced
routine karyotyping in many healthcare settings. While this will lead to more diagnoses …

Objective To report and compare the proportion of children with and without congenital
anomalies undergoing gastrostomy for tube feeding in their first 5 years. Methods A …

Objectives To determine the baseline trends in the total birth prevalence of neural tube
defects (NTDs) in England (2000–2019) to enable the impact of folic acid fortification of non …

Background Congenital anomalies (CAs) increase the risk of death during infancy and
childhood. This study aimed to evaluate the accuracy of using death certificates to estimate …