Line Rode

Aim We examined the heart failure biomarker mid‐regional pro‐atrial natriuretic peptide during the first trimester of pregnancy in relation to early‐onset preeclampsia <34 weeks. Materials and Methods This case–control study included 34 women with singleton pregnancies with a preeclampsia diagnosis and delivery before 34 weeks of gestation who had attended the routine first‐trimester ultrasound scan at 11–13+6 weeks of gestation between August 2010 and October 2015 at the Copenhagen University Hospital Rigshospitalet, Denmark, and 91 uncomplicated singleton pregnancies matched by time of the routine first‐trimester blood sampling at 8–13+6 weeks. Descriptive statistical analyses were performed for maternal characteristics and obstetric and medical history for the case versus the control group. Concentrations of mid‐regional pro‐atrial natriuretic peptide, placental growth factor, soluble fms‐like tyrosine kinase‐1, and pregnancy‐associated plasma protein A between early‐onset preeclampsia cases and the control group were compared using Students t ‐test and the Mann–Whitney U test. Biochemical marker concentrations were converted into multiples of the expected median values after adjustment for gestational age. Results Mid‐regional pro‐atrial natriuretic peptide levels were not significantly different between early‐onset preeclampsia cases and the control group in the first trimester of pregnancy. As expected, both placental growth factor and pregnancy‐associated plasma protein A levels were significantly lower in early‐onset preeclampsia, whereas soluble fms‐like tyrosine kinase‐1 levels were not statistically significantly different. Conclusion The maternal first‐trimester concentration of mid‐regional pro‐atrial natriuretic peptide, a peptide with multiple biological functions including a relation to cardiovascular disease, was not significantly different in women with early‐onset preeclampsia.

Objective To estimate the prevalence of chromosomal conditions in all fetuses and children with major congenital heart defect (CHD) in Denmark between 2008 and 2018. Methods This was a national registry‐based study including all singleton pregnancies with a prenatally or postnatally diagnosed major CHD usually requiring surgery within the first year after birth and a due date between July 2008 and December 2018 in Denmark. Data were retrieved from the Danish Fetal Medicine Database (DFMD) and the Danish Cytogenetic Central Register (DCCR) in October 2020. The DCCR contains information on all prenatal and postnatal genetic analyses, including karyotyping, chromosomal microarray, polymerase chain reaction, multiplex ligation‐dependent probe amplification and fluorescence in‐situ hybridization. All cases were reviewed by a clinical geneticist, and genetic changes were classified as pathogenic, likely pathogenic, variant of uncertain significance, likely benign or benign. Pathogenic and likely pathogenic variants were considered to be abnormal. Cases with CHD without any registered chromosomal analysis reported were considered genetically normal. Isolated CHD was defined as a case with major CHD without any other structural malformations detected prenatally or postnatally. Results are given as n (%). Comparisons between isolated and non‐isolated cases were performed using logistic regression analysis, and data are presented as odds ratios (ORs) with 95% CIs. Results A total of 8482 cases with any cardiovascular diagnosis were retrieved from the DFMD. Twins ( n = 112) and minor CHD cases ( n = 6921) were excluded, resulting in 1449 cases with major CHD. Of the included cases, 918 (63.4%) underwent chromosomal analysis. An abnormal test result was found in 187 cases, giving a prevalence of a chromosomal condition of 12.9% (95% CI, 11.2–14.7%) among all cases with major CHD. The highest prevalence of a chromosomal condition was found in cases with pulmonary atresia with intact ventricular septum and those with truncus arteriosus (both 28.6%), while the lowest prevalence was found in cases with transposition of the great arteries (2.2%) and congenitally corrected transposition of the great arteries (0%). In isolated cases of transposition of the great arteries, the prevalence of a chromosomal condition was 0.6%. The overall OR for a chromosomal condition in non‐isolated cases compared with isolated cases was 2.72 (95% CI, 1.90–3.88). Conclusions We found an overall prevalence of a chromosomal condition of 12.9% among cases with major CHD in a national cohort with a high participation rate in first‐ and second‐trimester screening, without employing whole genome and whole exome sequencing. The prevalence of a chromosomal condition varied considerably according to CHD diagnosis and presence of associated extracardiac malformations. These findings are important for prenatal counseling. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.