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Introduction: An impact of maternal obesity on ultrasound dating of pregnancy at 11-14 gestational weeks is possible and was investigated.Material and Methods: A prospective cohort study based on the Danish national population during a 4-year period in which we entered all mothers with singleton pregnancies who had a known last menstrual period (LMP), a recorded booking of body mass index (BMI), and a late first trimester ultrasound dating scan using crown-rump-length measurement (gestational age 11+0 -13+6  weeks). Almost all scans were performed transabdominally. Transvaginal ultrasound was only performed in the case of limited visibility by transabdominal scanning. Differences between LMP and ultrasound estimated date of delivery (EDD) were stratified by BMI classes. Odds ratios (ORs) were calculated and adjusted for maternal age, parity and smoking.Results: In total, 187 486 women were analyzed: 21.8% were overweight and 12.3% obese. Ultrasound EDD was ≥7 days later than by LMP in 5.8% of normal-weight women, 7.3% of obese women, and 10.0% of women with morbid obesity. Compared with normal BMI (18.5-24.9), the OR for postponing EDD increased with increasing BMI; BMI 25-29.9 [OR 0.97, 95% confidence interval (CI) 0.93-1.02], BMI 30-34.9 (OR 1.14, 95% CI 1.07-1.23), BMI 35-39.9 (OR 1.28, 95% CI 1.15-1.42), and BMI 40+ (OR 1.73, 95% CI 1.50-1.98). Lean pregnant women (BMI <18.5) also had a higher chance of having EDD postponed 7 days or more (OR 1.11, 95% CI 1.01-1.22).Conclusion: Rising maternal BMI appears to be associated with postponement of ultrasound EDD. [ABSTRACT FROM AUTHOR]

Late-onset preeclampsia occurring after 34 weeks of gestation is the most common form of preeclampsia, but little is known about either etiology or prevention. Current detection methods for preeclampsia in early pregnancy have not shown promising results in detecting late-onset preeclampsia. The aim of this study was to assess whether apolipoproteins in combination with maternal medical history and biophysical factors can be used as an early detection method for late-onset preeclampsia. This nested case-cohort study was based at Odense University Hospital, Denmark. Women attending their first trimester scan were invited to participate if they understood Danish or English, were above the age of 18, and had singleton pregnancies. Blood pressure, maternal medical history, uterine artery pulsatility indices, and blood samples were collected at inclusion. Outcome data were collected from participants' medical files postpartum, and cases were selected when preeclampsia diagnostics were present. Serum samples were analyzed by targeted mass spectrometry using a biomarker panel consisting of 12 apolipoproteins. Logistic regression analyses were performed and finally receiver operating curves were completed. The cohort consisted of 27 cases and 194 normotensive controls, randomized from 340 eligible participants. Significant differences were found between the two groups' baseline characteristics but none of the apolipoproteins showed significant difference (p < 0.05). The ROC-curve combining maternal characteristics, mean arterial pressure and two apolipoproteins showed the best sensitivity of 55.5% at a 10% false-positive rate and an area under the curve of 0.873. In conclusion, apolipoproteins did not improve the detection of late-onset preeclampsia in a combined screening model. [ABSTRACT FROM AUTHOR]

Determination of chorionicity is one of the most important issues in the management of twin pregnancy. Modern ultrasound equipment has made it possible to accurately assess placentation already in the first trimester with the lambda sign. With regard to prenatal diagnosis, it is important to know the chorionicity in order to calculate the risk of chromosomally abnormal fetuses. Accurate chorionicity offers the obstetricians the opportunity to observe the monochorionic twins more intensively than is required for twins with dichorionic placentation. This review gives an update of the state of the art for clinicians caring for twin pregnancies. [ABSTRACT FROM AUTHOR]

Introduction: To investigate the performance of the second‐trimester ultrasound scan regarding ultrasound‐detectable congenital malformations in a Danish region. The study sample was population‐based, with 6 months of postnatal follow‐up. Hospital records and autopsy reports were reviewed in each case to validate the prenatal ultrasound diagnosis. Material and methods: This population‐based cohort study included all fetuses (n = 19.367) alive at the second‐trimester scan in four hospitals in a Danish region. The final diagnosis of the malformations was based on hospital records during the 6‐month postnatal follow‐up. In case of termination or stillbirth, the result from the autopsy report was used to validate the prenatal ultrasound diagnosis. Results: The detection rate of congenital malformations in the prenatal screening program was 69%, where 18% was detected on the first‐trimester scan and 51% on the second‐trimester scan. Another 8% was detected in the third trimester. Specificity was 99.9%. The positive predictive value of the screening program was 94.5%, and the negative predictive value was 99.5%. The overall prevalence of malformations was 16.8 per 1000 fetuses, most frequently in the heart and the urinary tract. Conclusions: This study shows that the national screening program for congenital malformations can detect many severe malformations and is an effective screening test for malformations. [ABSTRACT FROM AUTHOR]

Background: The detection of an abnormality during prenatal screening implies that the parents are informed about possible treatment and management of the pregnancy, birth, and postnatal course. This information should enable the parents to make decisions regarding the pregnancy, especially in cases where termination of pregnancy may be an option. The objectives of this study were to investigate how often doctors informed parents about pregnancy termination when the fetus had an anomaly and which demographic factors were related to parental decision-making. Methods: This was a retrospective cohort study with prospectively collected data of fetuses diagnosed with an abnormality during prenatal screening between 2014 and 2016 in Denmark. We categorized the abnormalities into five long-term prognosis groups and analyzed their association with the doctor provided information about termination. We tested the association between demographic variables and parental decisions using univariate and multivariate statistical analyses. Results: Three hundred and twenty fetuses were diagnosed with an abnormality. In 67% of these cases, the parents were informed about termination. All parents whose fetus had a lethal prognosis were informed about termination. By comparison, the parents of 98% of fetuses with genetic disorders, 96% of fetuses with poor prognosis, 69% of fetuses with uncertain prognosis, and 12% of fetuses with good prognosis were informed about termination. Of these parents, 92% chose to terminate. A lethal long-term prognosis was the only factor related to parental decision to terminate a pregnancy. Conclusions: Doctors mainly informed parents about the option of pregnancy termination for conditions with a poor or lethal long-term prognosis or for genetic disorders. Only conditions with a lethal prognosis were significantly related to the parental decision to terminate the pregnancy. [ABSTRACT FROM AUTHOR]

To investigate the association between neonatal complications and neurophysiological development in twins at 18 and 48–60 months of age. This was a secondary analysis of 841 Danish mono- and dichorionic diamniotic twins from a randomized controlled trial (PREDICT study), which included an assessment of the twin's neurophysiological development using the Ages and Stages Questionnaire (ASQ) that had been filled out by the parents at 18 and 48 or 60 months. The correlation within twin pairs was accounted for by the method of generalized estimating equation. Models were adjusted for maternal educational score and gestational age at delivery. ASQ data were available for 823 children at 18 months and 425 children at 48 or 60 months. Low maternal educational score and preterm delivery <34 weeks were associated with a lower ASQ score at 48–60 months (−15.4 points (95%CI −26.4; −4.5) and −13.2 points (95%CI −23.8; −2.5), respectively). Neonatal sepsis and a compound of intraventricular hemorrhage, retinopathy of prematurity and necrotizing enterocolitis (IVH/ROP/NEC) were associated with lower ASQ score at 18 months (−15.3 points (95%CI −28.1; −2.5) and −30.8 points (95%CI −59.5; −2.1), respectively). Children with IVH/ROP/NEC had a lower ASQ score at 48–60 months (−34.2 points (95%CI −67.9; −0.6)). The associations were not specific to only one ASQ domain. Several neonatal complications are associated with poorer neurophysiological development in twins during childhood, even after adjustment for gestational age at delivery. [ABSTRACT FROM AUTHOR]

Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascertained seven new patients from six unrelated families harboring biallelic variants in ARV1, including five novel variants. Affected individuals showed psychomotor delay, hypotonia, early onset refractory seizures followed by regression and specific neuroimaging features. Flow cytometric analysis on patient fibroblasts showed a decrease in GPI‐anchored proteins on the cell surface, supporting a lower residual activity of the mutant ARV1 as compared to the wildtype. A rescue assay through the transduction of lentivirus expressing wild type ARV1 cDNA effectively rescued these alterations. This study expands the clinical and molecular spectrum of the ARV1‐related encephalopathy, confirming the essential role of ARV1 in GPI biosynthesis and brain function. [ABSTRACT FROM AUTHOR]

Aim: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort.Methods: A Danish population-based nationwide cohort of foetuses diagnosed with parenchymal kidney anomalies between 2007 and 2012 had previously been identified. These were compared with foetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age. Cumulative incidences of UTIs were computed. Mortality was estimated using the Kaplan-Meier method.Results: We identified 412 foetuses with parenchymal kidney anomalies out of 362 069 who underwent ultrasound scans and 277 were born alive. The overall risk of a UTI before the age of two years was 19%, and it was 14% among infants without prenatally diagnosed co-occurring urinary tract malformations. The corresponding risk in the 4074 controls was 1%. After two years, mortality was 2.2% in infants with prenatally diagnosed parenchymal kidney anomalies and 0.2% in the controls.Conclusion: Infants prenatally diagnosed with parenchymal kidney anomalies had a substantially increased risk of UTI. Awareness of this increased risk may facilitate earlier diagnosis of UTIs in this population. [ABSTRACT FROM AUTHOR]

Introduction: The objective was to investigate the association between chorionicity-specific intertwin birthweight discordance and adverse outcomes including long-term follow up at 6, 18, and 48-60 months after term via Ages and Stages Questionnaire.Material and Methods: In this secondary analysis of a cohort study (Oldenburg et al., n = 1688) and a randomized controlled trial (PREDICT study, n = 1045) twin pairs were divided into three groups according to chorionicity-specific birthweight discordance: <75th percentile, 75th-90th percentile and >90th percentile. Information on infant mortality, admittance to neonatal intensive care units, and gestational age at delivery was available for all pairs. Detailed neonatal outcomes were available for 656 pairs from PREDICT, of which 567 pairs had at least one Ages and Stages Questionnair follow-up. Logistic regression models were used for dichotomous outcomes. Ages and Stages Questionnair scores were compared using the method of generalized estimating equation to account for the correlation within twins.Results: The 75th and 90th percentiles for birthweight discordance were 14.8 and 21.4% for monochorionic and 16.0 and 23.8% for dichorionic twins. After adjustment for small for gestational age and gender, birthweight discordance >75th and >90th percentile was associated with induced delivery <34 weeks [odds ratio 1.71 (95% confidence interval 1.11-2.65) and odds ratio 2.83 (95% confidence interval 1.73-4.64), respectively]. Discordance >75th-percentile was associated with an increased risk of infant mortality after 28 days [odds ratio 4.69 (95% confidence interval 1.07-20.45)] but not with major neonatal complications or with low mean Ages and Stages Questionnair scores at 6, 18, and 48-60 months after term.Conclusion: Chorionicity-specific intertwin birthweight discordance is a risk factor for induced preterm delivery and infant mortality, but not for lower scores for neurophysiological development at 6, 18, and 48-60 months. [ABSTRACT FROM AUTHOR]

Objective To describe the establishment and organization of the Danish Fetal Medicine Database and to report national results of first-trimester combined screening for trisomy 21 in the 5-year period 2008-2012. Design National register study using prospectively collected first-trimester screening data from the Danish Fetal Medicine Database. Population Pregnant women in Denmark undergoing first-trimester screening for trisomy 21. Methods Data on maternal characteristics, biochemical and ultrasonic markers are continuously sent electronically from local fetal medicine databases (Astraia Gmbh software) to a central national database. Data are linked to outcome data from the National Birth Register, the National Patient Register and the National Cytogenetic Register via the mother's unique personal registration number. First-trimester screening data from 2008 to 2012 were retrieved. Main outcome measures Screening performance was assessed for the years 2008-2012 by calculating detection rates and screen-positive rates. Results A total of 268 342 first-trimester risk assessments for trisomy 21 were performed in singleton pregnancies. Participation rate in first-trimester screening was >90%. The national screen-positive rate increased from 3.6% in 2008 to 4.7% in 2012. The national detection rate of trisomy 21 was reported to be between 82 and 90% in the 5-year period. Conclusion A national fetal medicine database has been successfully established in Denmark. Results from the database have shown that at a national level first-trimester screening performance for trisomy 21 is high with a low screen-positive rate and a high detection rate. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To assess the relationship between the finding of fetal femur diaphysis length ( FL) below the 5th percentile at the second-trimester scan and pregnancy outcome, in a population in which more than 90% of women attend first-trimester screening. Methods This was a retrospective study of all Danish singleton pregnancies with a 17-22-week anomaly scan between 1 January 2008 and 30 June 2011. Information on FL and gestational age ( GA) at anomaly scan, on birth weight and GA at delivery and on chromosomal abnormalities was obtained from the Danish Fetal Medicine Database. Results Short FL was identified in 2718 (1.8%) of 147 766 fetuses and was present in 11 (16.2%) of the 68 fetuses affected by trisomy 21 (positive likelihood ratio ( LR+) 8.8 (95% CI, 5.1-15.2)). Trisomy 13/18 and unbalanced autosomal structural abnormalities were also associated with a short FL in three (12.0%, LR+ 6.5 (95% CI, 2.3-18.9)) and eight (32.0%, LR+ 17.4 (95% CI, 9.8-30.9)) of the cases, respectively. The risk of a fetus having trisomy 21, trisomy 18, trisomy 13 or an unbalanced autosomal structural abnormality was 1 : 123 (95% CI, 79-192), given a short FL. Pregnancies with a fetus with short FL were more often affected by early preterm delivery (before 34 weeks) (5.6%; odds ratio ( OR) = 4.2 (95% CI, 3.5-4.9)) and small-for-gestational-age ( SGA) infants (13.9%; OR = 4.3 (95% CI, 3.8-4.8)). Conclusion Short FL at the second-trimester anomaly scan is associated with a significantly higher relative risk of chromosomal abnormalities, and a substantially higher absolute risk for SGA and early preterm delivery. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives Targeted non-invasive prenatal testing ( NIPT) tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies and could be an alternative to traditional karyotyping. The aim of this study was to determine the risk of missing other abnormal karyotypes of probable phenotypic significance by NIPT. Methods This was a retrospective population-based analysis of all singleton pregnancies booked for combined first-trimester screening ( cFTS) in Denmark over a 4-year period. Data concerning maternal demographics, cFTS and prenatal or postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosomal anomaly would have been detected by NIPT and whether it was likely to affect phenotype. Results cFTS was completed in 193 638 pregnancies. 10 205 (5.3%) had cytogenetic or molecular analysis performed. Of these, 1122 (11.0%) had an abnormal karyotype, of which 262 (23.4%) would have been missed by NIPT, but would probably have been clinically significant. The prevalence of such 'atypical abnormal karyotypes' was increased in women above 45 years of age, in pregnancies with increased nuchal translucency ( NT) thickness (≥ 3.5 mm), with abnormal levels of free β-human chorionic gonadotropin (< 0.2 or ≥ 5.0 multiples of the median ( MoM)) or pregnancy-associated plasma protein-A < 0.2 MoM. One or more of these factors was present in 3% of women, and the prevalence of atypical abnormal karyotypes in this high-risk cohort was 1.6%. Conclusions A significant proportion of karyotypic abnormalities will be missed by targeted NIPT. Women of advanced maternal age, or with increased fetal NT or abnormal biochemistry, have a higher risk of having a fetus affected by an atypical abnormal karyotype and need to be counseled accordingly when considering NIPT. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives To assess the detection rate of triploidy at first-trimester screening for trisomy 21 and evaluate outcome in triploid pregnancies. Methods From 2008 to 2011, 198 427 women with singleton pregnancies underwent first-trimester screening between 11 + 2 and 14 + 0 weeks' gestation. Screening parameters included nuchal translucency, maternal serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A). In all triploid fetuses, these parameters were re-evaluated. Karyotypes were established by invasive testing (chorionic villus sampling or amniocentesis) or postabortem and obtained from the Danish Cytogenetic Central Register and the Danish Fetal Medicine Database. Results A total of 30 triploid fetuses underwent first-trimester screening. Twenty-five were diagnosed as a result of abnormal first-trimester scan findings, a detection rate of 83.3%. Twenty-three fetuses were identified due to a high risk for trisomy 13, 18 or 21 and two fetuses due to structural abnormalities. The incidence of triploidy at first-trimester screening was 1:6614. A smaller crown-rump length than that estimated by date of last menstrual period was found in 95% of the fetuses with data available for evaluation. Eight fetuses had a larger biparietal diameter than expected for gestational age. Fetuses with a 69,XXX karyotype had significantly lower multiples of the median values for β-hCG and PAPP-A than did 69,XXY fetuses (P = 0.045 and P = 0.02 forβ-hCG and PAPP-A, respectively). No infants with triploidy were born in the study period. Among the triploid gestations detected on first-trimester screening, 20 (80.0%) women chose termination of pregnancy, four (16.0%) had spontaneous miscarriage and one (4.0%) was stillborn. Conclusion First-trimester screening for trisomy 21 also provides a high detection rate for triploidy. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: The aim of this prospective multicenter study was to evaluate and compare the diagnostic performance of PET/CT, MRI and transvaginal two-dimensional ultrasound (2DUS) in the preoperative assessment of endometrial cancer (EC). Methods: 318 consecutive women with EC were included when referred to three Danish tertiary gynecological centers for surgical treatment. Preoperatively they were PET/CT-, MRI-, and 2DUS scanned. The imaging results were compared to the final pathological findings. This study was approved by the National Committee on Health Research Ethics. Results: For predicting myometrial invasion, we found sensitivity, specificity, PPV, NPV, and accuracy for PET/CT to be 93%, 49%, 41%, 95% and 61%, for MRI to be 87%, 57%, 44%, 92%, and 66% and for 2DUS to be 71%, 72%, 51%, 86% and 72%. For predicting cervical invasion, the values were 43%, 94%, 69%, 85% and 83%, respectively, for PET/CT, 33%, 95%, 60%, 85%, and 82%, respectively, for MRI, and 29%, 92%, 48%, 82% and 78% for 2DUS. Finally, for lymph node metastases, the values were 74%, 93%, 59%, 96%, and 91% for PET/CT and 59%, 93%, 40%, 97% and 90% for MRI. When comparing the diagnostic performance we found PET/CT, MRI and 2DUS to be comparable in predicting myometrial invasion. For cervical invasion and lymph node metastases, however, PET/CT was the best. Conclusions: None of the modalities can yet replace surgical staging. However, they all contributed to important knowledge and were, furthermore, able to upstage low-risk patients who would not have been recommended lymph node resection based on histology and grade alone. [Copyright &y& Elsevier]

The article discusses the results of a study that examines the association between levels of cytokine in twin pregnancies and the risk of spontaneous preterm delivery. The study showed a statistically significant association between interleukin (IL)-8 and spontaneous preterm delivery. It concludes that women with high IL-8 levels have higher risk of spontaneous preterm delivery before 34 weeks of gestation.

The study objective was to determine the parental origin of triploidy in relation to findings from early risk assessment in a combined screening program between 2004 and the end of 2006. Triploidy was diagnosed in six chorion villus samples and two samples from missed abortions. After informed consent, quantitative fluorescence polymerase chain reaction analysis was performed on the five cases where we received blood from both parents and tissue from fetuses. In four cases the origin of the triploidy was paternal and in one maternal, in accordance with previous findings in type I and type II triploidies. Finding triploidy is possible by risk assessment (ultrasound and double test), and thereby women may have the opportunity for early termination of pregnancy. [ABSTRACT FROM AUTHOR]

Background: The aim of the study was to estimate the proportion of women giving birth in two hospitals in the Region of Southern Denmark who did not attend the malformation scan and to elucidate the reasons for not participating.Methods: In this register-based descriptive study, we used patient administration systems to identify women who had given birth at two Danish hospitals between March 2013 and January 2015. We then linked this information with the hospital database for fetal medicine (Astraia) to identify women who did not attend the malformation scan at week 18-20. We reviewed the medical records of these women to validate the data and to identify the reason for non-participation.Results: Of 7690 births, 153 (2%) women did not attend the malformation scan. The main reason for non-participation was a passive deselection (81%). Most of these women were not present in Denmark at the time of the malformation scan (61%) and few women declined (8%).Conclusions: Less than 2% of a birth cohort in two major hospitals in Denmark did not attend the free offer of a malformation scan. Most of these women (81%) did not actively decide against the malformation scan. Very few (0.2%) declined the malformation scan. Non-attendance is not always due to an active decision made by the pregnant woman. [ABSTRACT FROM AUTHOR]