No abstract

With a high sensitivity and specificity, non-invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced, and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total, 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal cancer and true fetal mosaicism. A very high percentage of cases (67%) were reported with no obvious biological or technical explanation for the discordant result. The included cases represent only a minor part of the true number of false positive or false negative NIPT cases identified in fetal medicine clinics around the world. To ensure knowledge exchange and transparency of NIPT between laboratories, we suggest a systematic recording of discordant NIPT results, as well as a quality assurance by external quality control and accreditation. © 2017 John Wiley & Sons, Ltd.

Detection rates of major CHD improved during the study. This has led to increased TOP rates, with a subsequent 39% decrease in the live-birth incidence of major CHD.

Objective To study the risk of adverse pregnancy outcomes in women with polycystic ovary syndrome (PCOS), and to examine the role of hyperandrogenaemia.Design Cohort study.Setting Singleton pregnancies in women with PCOS identified at a private fertility clinic during 1997-2010 and a background population including all singleton deliveries at Hvidovre Hospital, Denmark, in 2005.Population A cohort of 459 women with PCOS and a background population of 5409 women.Methods Obstetric outcomes were extracted from national Danish registries and odds ratios (ORs) were calculated by multiple logistic regression analysis, adjusting for age, parity, and body mass index.Main outcome measures Risk of pre-eclampsia, preterm delivery, and small for gestational age offspring in the entire PCOS population and in a subsample with hyperandrogenaemia.Results Women with PCOS had an increased risk of preterm delivery <37 weeks of gestation (OR 2.28; 95% confidence interval, 95% CI, 1.51-3.45; P < 0.0001). The elevated risk was confined to hyperandrogenic women with PCOS: preterm delivery before 37 weeks of gestation (OR 2.78; 95% CI 1.62-4.77; P < 0.0001), and was not seen in normoandrogenic women with PCOS (OR 1.35; 95% CI 0.54-3.39; P = 0.52). The overall risk of pre-eclampsia was not elevated (OR 1.69; 95% CI 0.99-2.88; P = 0.05) compared with the background population, but was significantly increased in the hyperandrogenic subsample (OR 2.41; 95% CI 1.26-4.58; P < 0.001). The risk of small for gestational age offspring was similar in all groups.Conclusion Women with PCOS had an increased risk of preterm delivery compared with the background population. The increased risk was confined to hyperandrogenic women with PCOS who had a two-fold increased risk of preterm delivery and pre-eclampsia.Keywords Hyperandrogenaemia, polycystic ovary syndrome, pre-eclampsia, preterm delivery.Please cite this paper as: Naver KV, Grinsted J, Larsen SO, Hedley PL, Jørgensen FS, Christiansen M, Nilas L. Increased risk of preterm delivery and pre-eclampsia in women with polycystic ovary syndrome and hyperandrogenaemia. BJOG 2014;121:575-581. IntroductionPolycystic ovary syndrome (PCOS) is the most common endocrinopathy among fertile women, affecting 5-10% in different ethnic populations. PCOS is a heterogeneous disorder and is associated with insulin resistance, dyslipidaemia, and increased long-term risk of type-II diabetes. The PCOS diagnosis according to the 2003 Rotterdam criteria includes any two or all three of the following features: menstrual irregularities; polycystic ovaries; and hyperandrogenism.1 As a consequence of anovulation, fertility treatment is often necessary to achieve a pregnancy. Recent studies indicate an increased risk of pregnancy complications such as pre-eclampsia, gestational diabetes, preterm delivery, and hypertension in PCOS pregnancies. 2 The pathophysiological explanation is debated, as several characteristics of the PCOS population, including obesity and the use of assisted reproductive techniques, are potential conf...

Study question Does maternal infection with SARS-CoV-2 in first trimester pregnancy have an impact on the fetal development as measured by nuchal translucency thickness and pregnancy loss? Summary answer Nuchal translucency thickness at the first trimester scan was not significantly different in pregnant women with versus without SARS-CoV-2 infection in early pregnancy and there was no significant increased risk of pregnancy loss in women with SARS-CoV-2 infection in the first trimester. What is known already Pregnant women are more vulnerable to viral infections. Previous coronavirus epidemics have been associated with increased maternal morbidity, mortality and adverse obstetric outcomes. Currently, no evidence exists regarding possible effects of SARS-CoV-2 in first trimester pregnancies. Study design, size, duration Cohort study of 1,019 women with a double test taken between Feb. 17 and Apr. 23, 2020, as a part of the combined first trimester risk assessment, and 36 women with a first trimester pregnancy loss between Apr. 14 and May 21, 2020, prior to the double test. The study period was during the first SARS-CoV-2 epidemic wave in Denmark. Participants/materials, setting, methods Cohort 1 included pregnant women with a double test taken within the study period. The excess serum from each double test was analyzed for SARS-CoV-2 antibodies. Results were correlated to the nuchal translucency thickness and the number of pregnancy losses before or at the time of the first trimester scan. Cohort 2 included women with a pregnancy loss before the gestational age for double test sample. Serum from a blood test taken the day the pregnancy loss was identified was analyzed for SARS-CoV-2 antibodies. The study was conducted at a public university hospital serving approximately 12% of pregnant women and births in Denmark. All participants in the study provided written informed consent. Main results and the role of chance Eighteen (1.8%) women had SARS-CoV-2 antibodies in the serum from the double test suggestive of SARS-CoV-2 infection in early pregnancy. There was no significant difference in nuchal translucency thickness for women testing positive for previous SARS-CoV-2 infection (n = 18) versus negative (n = 994) (p = 0.62). There was no significant increased risk of pregnancy loss for women with positive antibodies (n = 1) (OR 3.4, 0.08-24.3 95% CI, p = 0.27). None of the women had been hospitalized due to SARS-CoV-2 infection. None of the women with pregnancy loss prior to the double test (Cohort 2) had SARS-CoV-2 antibodies. Limitations, reasons for caution These results may only apply to similar populations and to patients who do not require hospitalization due to SARS-CoV-2 infection. A limitation of the study is that only 1.8% of the study population had SARS-CoV-2 antibodies suggestive of previous infection. Wider implication of the findings Maternal SARS-CoV-2 infection had no effect on the nuchal translucency thickness and there was no significant increased risk of pregnancy loss for women with SARS-CoV-2 infection in first trimester pregnancy. Evidence concerning Covid-19 in pregnancy is still limited. These data indicate that infection with SARS-CoV-2 in not hospitalized women does not pose a significant threat in first trimester pregnancies. Follow up studies are needed to establish any risk to a fetus exposed to maternal SARS-CoV-2 infection. Study funding/competing interest(s) Prof. Henriette Svarre Nielsen (HSN) and colleagues received a grant from the Danish Government for research of Covid-19 among pregnant women. The Danish government was not involved in the study design, data collection, analysis, interpretation of data, writing of the report or decision to submit the paper for publication. AI, JOL, JBR, DMS, JEF, and ERH received funding from a Novo Nordisk Foundation (NNF) Young Investigator Grant (NNF15OC0016662) and a Danish National Science Foundation Center Grant (6110-00344B). AI received a Novo Scholarship. JOL is funded by an NNF Pregraduate Fellowship (NNF19OC0058982). DW is funded by the NNF (NNF18SA0034956, NNF14CC0001, NNF17OC0027594). AMK is funded by a grant from the Rigshospitalet’s research fund. Henriette Svarre Nielsen has received speakeŕs fees from Ferring Pharmaceuticals, Merck Denmark A/S and Ibsa Nordic (outside the submitted work). Nina la Cour Freiesleben has received a grant from Gedeon Richter (outside the submitted work). Astrid Marie Kolte has received speakeŕs from Merck (outside the submitted work). The other authors did not report any potential conflicts of interest.

Objective To assess outcome in twin pregnancies according to chorionicity. Methods

Objectives 1.31 (95% CI,). An increased level of knowledge was also associated with higher levels of wellbeing (adjusted linear coefficient 0.51 (95% CI,

IMPORTANCEThe prevalence and characteristics of bicuspid aortic valve (BAV) are mainly reported from selected cohorts. BAV is associated with aortopathy, but it is unclear if it represents a fetal developmental defect or is secondary to abnormal valve dynamics.OBJECTIVE To determine the prevalence of BAV and BAV subtypes and to describe the associated aortopathy in a large, population-based cohort of newborns. DESIGN, SETTING, AND PARTICIPANTS The Copenhagen Baby Heart Study was a cross-sectional, population-based study open to all newborns born in Copenhagen between April 1, 2016, and October 31, 2018. Newborns with BAV were matched 1:2 to newborns with a tricuspid aortic valve (non-BAV group) on sex, singleton/twin pregnancy, gestational age, weight, and age at time of examination. EXPOSURES Transthoracic echocardiography within 60 days after birth.MAIN OUTCOMES AND MEASURES Primary outcome was BAV prevalence and types, ie, number of raphes and spatial orientation of raphes or cusps (no raphes), according to the classification system of Sievers and Schmidtke (classified as type 0, 1, or 2, with numbers indicating the number of raphes). Secondary outcome was valve function and BAV-associated aortopathy, defined as aortic diameter z score of 3 or greater or coarctation. RESULTSIn total, 25 556 newborns (51.7% male; mean age, 12 [SD, 8] days) underwent echocardiography. BAV was diagnosed in 196 newborns (prevalence, 0.77% [95% CI, 0.67%-0.88%]), with male-female ratio 2.1:1. BAV was classified as type 0 in 17 newborns (8.7% [95% CI, 5.5%-13.5%]), type 1 in 178 (90.8% [95% CI, 86.0%-94.1%]) (147 [75.0% {95% CI, 68.5%-80.5%}] right-left coronary raphe, 27 [13.8% {95% CI, 9.6%-19.3%}] right coronary-noncoronary raphe, 4 [2.0% {95% CI, 0.8%-5.1%}] left coronary-noncoronary raphe), and type 2 in 1 (0.5% [95% CI, 0.1%-2.8%]). Aortic regurgitation was more prevalent in newborns with BAV (n = 29 [14.7%]) than in those without BAV (1.3%) (absolute % difference, 13.4% [95% CI, 7.8%-18.9%]; P < .001). Newborns with BAV had higher flow velocities across the valve (0.67 [95% CI, 0.65-0.69] m/s vs 0.61 [95% CI, 0.60-0.62] m/s; mean difference, 0.06 m/s [95% CI, 0-0.1]) and larger aortic root and tubular ascending aortic diameters than those without BAV