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Objective To investigate the overall and type-specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. Methods This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases-10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. Results A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8–78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type-specific DRs for the entire period were 56.4% (95% CI, 45.0–67.6%) for unilateral CL; 76.6% (95% CI, 71.7–82.9%) for unilateral CLP; 70.5% (95% CI, 52.1–87.6%) for bilateral CL; 82.3% (95% CI, 70.6–93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6–5.7%) for CP. A total of 20.9% (208/994) of the cases

AIM: To evaluate a conservative estimate of the prevalence of chromosome conditions in all fetuses and children with a major congenital heart defect (CHD) in Denmark between 2008 and 2018.METHODS: This was a national register-based study including all singleton pregnancies with a pre- or postnatally diagnosed major CHD usually requiring surgery within the first year of life 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 the fall of 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, uncertain significance, likely benign, and benign. Pathogenic and likely pathogenic were considered to be abnormal. Cases with a CHD without any registered chromosome analysis reported were considered genetically normal. Isolated CHD was defined as a case with a major CHD without any other structural malformations detected pre- or postnatally. Results were given as total numbers and frequencies. Comparison between isolated and non-isolated cases was performed using logistic regression analysis and presented as odds ratios (ORs) including 95% confidence intervals (CI).RESULTS: We retrieved 8,482 cases with any cardiovascular diagnosis from the DFMD and excluded twins (n=112) and minor CHD (n=6,921), resulting in 1,449 cases with major CHD. Of the included cases, 917 (63.3%) had a chromosome analysis performed with an abnormal test result in 186 cases, resulting in a prevalence of chromosomal conditions of 12.8% (95% confidence interval 11.2;14.7) in cases with major CHD. The highest prevalences were found in cases with pulmonary

OBJECTIVES: The aim of this study was to estimate the prevalence of specific neurodevelopmental disorders in children prenatally believed to have isolated mild ventriculomegaly in the second trimester of pregnancy to optimize the counselling process.METHODS: This was a nationwide register based study including all singleton pregnancies which had a first and second trimester scan in the period 1 January 2008 to 1 October 2014, identified through the Danish Fetal Medicine Database and from local clinical databases. All fetuses prenatally believed to have isolated mild ventriculomegaly (measurement of the atrium of the lateral ventricles between 10.0-15.0 mm) diagnosed prenatally between 18-22 weeks of gestation were followed-up through national patient registers until the age of 2 to 7 years. We obtained information about the diagnoses of intellectual disability, cerebral palsy, autism spectrum disorders, epilepsy and impaired psychomotor development from national registers. Results Among a cohort 292,046 of fetuses, 133 cases were found to have apparent isolated mild at the second trimester scan for fetal malformations. In eleven cases, long-term follow-up was not possible due to termination of pregnancy, spontaneous miscarriage, neonatal death and loss to follow-up. Among 122 live born children followed up for between 2-7 years, 15 children were identified with additional abnormalities while 107 children were postnatally confirmed with isolated mild ventriculomegaly. Of the 107 children, a neurodevelopmental disorder diagnosis was registered in 6 (5.6%) cases corresponding to an OR of 2.64 (95% CI 1.16-6.02) compared to the reference population. The diagnoses were autism spectrum disorders, epilepsy and impaired psychomotor development. None of the children were diagnosed with intellectual disability or cerebral palsy.CONCLUSIONS: Our results show that a diagnosis of confirmed isolated mild ventriculomegaly was associated with an increased risk of neurodevelopmental