Increased fetal nuchal translucency in the first-trimester screening : pregnancy outcomes and a long-term follow-up of children

Background: Increased nuchal translucency (NT) has been used as a screening method for fetal aneuploidies since 1990s. It is also known to be associated with a wide variety of structural defects and genetic syndromes. Long-term studies with a large cohort about the neurodevelopmental outcome of euploid children with increased fetal NT are sparse and the neurodevelopment is worth further study. Aim: The primary aim of this study was to collect data on the pregnancy outcomes, long-term neurodevelopmental and overall outcomes in a large cohort of fetuses with increased NT from singleton pregnancies in order to improve parental counselling. Material: All singleton pregnancies referred to the Department of Fetal Medicine at the Helsinki University Hospital due to increased NT in the first-trimester screening during 2002 2007 were studied. The outcome data were retrieved from hospital databases and national registers. Results: There were 1063 fetuses with increased NT in the first-trimester screening. Abnormal karyotype was observed in 224 fetuses (21%) and adverse pregnancy outcome occurred in 322 (30%). Termination of pregnancy was performed in 209 (20%) and there were 43 (4%) miscarriages and perinatal deaths. Of the 834 euploid fetuses 74 (9%) had structural defects or genetic disorders. Favourable pregnancy outcome became less likely by increasing NT: favourable outcome occurred in 92% in the lowest NT group (95th percentile 3.4 mm) and in 18% in the highest NT group (≥ 6.5 mm). Of the euploid fetuses with normal second-trimester ultrasound examination 96% were healthy at the discharge from the delivery hospital. During the follow-up (mean 6.5 years) neurodevelopmental impairment was detected in 29 (4.2%) and it was severe in 12 (1.7%). Major structural defects, severe neurodevelopmental impairment, or genetic disorders were detected in 54 cases (7%). Conclusion: One in five fetuses with increased NT (≥ 95th percentile) has chromosomal abnormalities and one in ten of the euploid fetuses has structural defects or genetic syndromes. Major health impairment (major structural defect, severe neurodevelopmental impairment, or genetic syndrome) is likely to be detected in 7% of euploid children with increased NT in the first-trimester screening but normal findings in the second-trimester screening. These results are helpful in counselling the parents when increased NT is detected.Tausta: Ensimmäisen raskauskolmanneksen ultraäänitutkimuksessa on mahdollista mitata sikiön niskaturvotus (NT). Lisääntyneen NT:n tiedetään liittyvän kromosomi- ja rakennepoikkeavuuksiin sekä geneettisiin oireyhtymiin. NT-mittaus on osa kromosomipoikkeavuuksien nykyistä seulontamenetelmää. Pitkäaikaisia tutkimuksia neurologisesta ennusteesta lisääntyneen NT:n jälkeen kromosomistoltaan normaaleilla lapsilla on vain vähän. Tutkimuksen tavoite: Tutkimuksen tavoitteena on tuottaa tietoa raskauden ennusteesta ja syntyneiden lasten pitkäaikaisennusteesta kun ensimmäisen raskauskolmanneksen seulontaultraäänitutkimuksessa on todettu lisääntynyt NT. Tutkimustietoa voidaan käyttää hyväksi neuvottaessa vanhempia tässä tilanteessa. Aineisto ja menetelmät: Tutkimusaineiston muodostavat kaikki Helsingin ja Uudenmaan sairaanhoitopiirin Sikiölääketieteen keskukseen lisääntyneen NT:n vuoksi vuosina 2002 2007 lähetetyt sikiöt. Tiedot raskauden ennusteesta ja syntyneiden lasten terveydestä on kerätty potilasasiakirjoista ja kansallisista rekistereistä. Tulokset: Lisääntynyt NT todettiin 1063 sikiöllä. Kromosomipoikkeavuuksia oli 21 % ja raskauden tulos oli huono (keskeytys, keskenmeno, perinataalikuolema, sairaan lapsen syntymä) 30 % tapauksista. Raskauden keskeytyksiä tehtiin 20 % ja 3 % raskauksista meni kesken. Suotuisan raskausennusteen todennäköisyys laski NT:n paksuuntuessa: 92 % raskauksista alimmassa NT-ryhmässä (95 persentiiliä 3.4 mm) päättyi suotuisasti kun taas ylimmässä NT-ryhmässä (≥ 6.5 mm) vastaava osuus oli 18 %. Raskausennuste oli suotuisa 96 % niistä sikiöistä, joiden NT oli koholla, kromosomit normaalit ja toisen raskauskolmanneksen rakenneultraäänitutkimus oli normaali. Edellä mainitusta ryhmästä syntyneitä lapsia seurattiin keskimäärin 6.5 vuotta. Vaikeita rakennepoikkeavuuksia, vaikeaa neurologisen kehityksen häiriötä tai perinnöllisiä oireyhtymiä todettiin 7 %:lla näistä lapsista seurannan aikana. Johtopäätökset: Niskaturvotuksen ollessa lisääntynyt viidenneksellä sikiöistä todetaan kromosomipoikkeavuus ja kymmeneksellä kromosomistoltaan normaaleista sikiöistä todetaan rakennepoikkeavuus tai perinnöllinen oireyhtymä. Niistä kromosomistoltaan normaaleista lapsista, joiden NT oli sikiöaikana koholla mutta rakenneultraäänitutkimustulos oli normaali, 93 %:lla ei ollut merkittävää terveyshaittaa 6.5 vuoden seurannassa

Sikiön kromosomi- ja rakennepoikkeavuuksien seulonta Suomessa

Teema : sikiölääketiede. English summaryPeer reviewe

Sikiön lisääntynyt niskaturvotus ensimmäisessä seulontakaikututkimuksessa

Peer reviewe

Impact of simulation training on the management of shoulder dystocia and incidence of permanent brachial plexus birth injury : An observational study

Objective To study the impact of shoulder dystocia (SD) simulation training on the management of SD and the incidence of permanent brachial plexus birth injury (BPBI). Design Retrospective observational study. Setting Helsinki University Women's Hospital, Finland. Sample Deliveries with SD. Methods Multi-professional, regular and systematic simulation training for obstetric emergencies began in 2015, and SD was one of the main themes. A study was conducted to assess changes in SD management and the incidence of permanent BPBI. The study period was from 2010 to 2019; years 2010-2014 were considered the pre-training period and years 2015-2019 were considered the post-training period. Main outcome measures The primary outcome measure was the incidence of permanent BPBI after the implementation of systematic simulation training. Changes in the management of SD were also analysed. Results During the study period, 113 085 vertex deliveries were recorded. The incidence of major SD risk factors (gestational diabetes, induction of labour, vacuum extraction) increased and was significantly higher for each of these factors during the post-training period (p < 0.001). The incidence of SD also increased significantly (0.01% vs 0.3%, p < 0.001) during the study period, but the number of children with permanent BPBI decreased by 55% after the implementation of systematic simulation training (0.05% vs 0.02%, p < 0.001). The most significant change in the management of SD was the increased incidence of successful delivery of the posterior arm. Conclusions Systematic simulation-based training of midwives and doctors can translate into improved individual and team performance and can significantly reduce the incidence of permanent BPBI.Peer reviewe

Clinical utility of nuchal translucency screening

Peer reviewe

Severe COVID-19 in pregnancy is almost exclusively limited to unvaccinated women - time for policies to change Comment

Non peer reviewe

COVID-19 in pregnancy—characteristics and outcomes of pregnant women admitted to hospital because of SARS-CoV-2 infection in the Nordic countries

cited By 0Introduction Population-based studies about the consequences of SARS-CoV-2 infection (COVID-19) in pregnancy are few and have limited generalizability to the Nordic population and healthcare systems. Material and methods This study examines pregnant women with COVID-19 in the five Nordic countries. Pregnant women were included if they were admitted to hospital between 1 March and 30 June 2020 and had a positive SARS-CoV-2 PCR test Results In the study areas, 214 pregnant women with a positive test were admitted to hospital, of which 56 women required hospital care due to COVID-19. The risk of admission due to COVID-19 was 0.4/1000 deliveries in Denmark, Finland and Norway, and 3.8/1000 deliveries in the Swedish regions. Women hospitalized because of COVID-19 were more frequently obese (p < 0.001) and had a migrant background (p < 0.001) compared with the total population of women who delivered in 2018. Twelve women (21.4%) needed intensive care. Among the 56 women admitted due to COVID-19, 48 women delivered 51 infants. Preterm delivery (n = 12, 25%, p < 0.001) and cesarean delivery (n = 21, 43.8%, p < 0.001) were more frequent in women with COVID-19 compared with women who delivered in 2018. No maternal deaths, stillbirths or neonatal deaths were reported. Conclusions The risk of admission due to COVID-19 disease in pregnancy was low in the Nordic countries. A fifth of the women required intensive care and we observed higher rates of preterm and cesarean deliveries. National public health policies appear to have had an impact on the risk of admission due to severe COVID-19 disease in pregnancy. Nordic collaboration is important in collecting robust data and assessing rare outcomes.Peer reviewe

Variations across Europe in hospitalization and management of pregnant women with SARS-CoV-2 during the initial phase of the pandemic : Multi-national population-based cohort study using the International Network of Obstetric Survey Systems (INOSS)

Funding Information: The national studies reported the following funding sources: The BOSS project was funded by the Belgian Federal Public Service of Health. The NOSS collaboration was supported by the Nordic Federation of Societies of Obstetrics and Gynecology (grant no. 6505, 2020). NOSS‐Denmark was supported by grants from The Region of Southern Denmark and Region Zealand's shared fund for joint health research projects (Reg. no. A767), and EasyTrial provided the data collection software. NOSS‐Finland received grants from the Finnish Medical Society, and from Helsinki University. UKOSS received funding from the National Institute for Health Research HS&DR Programme (11/46/12). The national studies in Italy and the Netherlands did not have specific funding. The multi‐national study received partial funding support from the European Medicines Agency (EMA) under the Framework service contract nr EMA/2018/28/PE. The content of this paper expresses the opinions of the authors and may not be understood or quoted as being made on behalf of or reflecting the position of the EMA or any of its committees or working parties. The research leading to these results was conducted as part of the activities of the EU PE&PV (Pharmacoepidemiology and Pharmacovigilance) Research Network, which is a public academic partnership coordinated by Utrecht University, the Netherlands. The CONSIGN project was scientifically coordinated by the University Medical Center, Utrecht. Funding Information: OB declares support from the European Medicines agency (EMA). HE declares grants from the Nordic Federation of Societies of Obstetrics and Gynecology (NFOG) and Norwegian Research Council (grant no 320181). AA declares a grant from the Region of Southern Denmark and Region Zealand's shared fund for joint health research projects. OA declares grants from the Finnish Medical Association and NFOG. MK declares grants from the National Institute for Health and Care Research, Medical Research Council, Healthcare Quality Improvement Partnership and Wellbeing of Women during the course of the study. MS leads a department that conducts studies on COVID‐19 vaccines for the European Medicines Agency, Pfizer, AstraZeneca and Janssen. All support was according to the ENCePP code of conduct. None of the other authors (NV, RR, SD, EJ, EO, MAS, TS, RV, AV, KB) has anything to disclose. Publisher Copyright: © 2023 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).Introduction: The majority of data on COVID-19 in pregnancy are not from sound population-based active surveillance systems. Material and methods: We conducted a multi-national study of population-based national or regional prospective cohorts using standardized definitions within the International Network of Obstetric Survey systems (INOSS). From a source population of women giving birth between March 1 and August 31, 2020, we included pregnant women admitted to hospital with a positive SARS-CoV-2 PCR test ≤7 days prior to or during admission and up to 2 days after birth. The admissions were further categorized as COVID-19-related or non-COVID-19-related. The primary outcome of interest was incidence of COVID-19-related hospital admission. Secondary outcomes included severe maternal disease (ICU admission and mechanical ventilation) and COVID-19-directed medical treatment. Results: In a source population of 816 628 maternities, a total of 2338 pregnant women were admitted with SARS-CoV-2; among them 940 (40%) were COVID-19-related admissions. The pooled incidence estimate for COVID-19-related admission was 0.59 (95% confidence interval 0.27–1.02) per 1000 maternities, with notable heterogeneity across countries (I2 = 97.3%, P = 0.00). In the COVID-19 admission group, between 8% and 17% of the women were admitted to intensive care, and 5%–13% needed mechanical ventilation. Thromboprophylaxis was the most frequent treatment given during COVID-19-related admission (range 14%–55%). Among 908 infants born to women in the COVID-19-related admission group, 5 (0.6%) stillbirths were reported. Conclusions: During the initial months of the pandemic, we found substantial variations in incidence of COVID-19-related admissions in nine European countries. Few pregnant women received COVID-19-directed medical treatment. Several barriers to rapid surveillance were identified. Investment in robust surveillance should be prioritized to prepare for future pandemics.Peer reviewe

EU-kansalaisen oikeus toimeentulotukeen

Euroopan unioni on vuosikymmenien saatossa muotoutunut markkinataloudesta myös sosiaaliseksi toimijaksi. EU-kansalaisten vapaa liikkuvuus on yksi EU:n toiminnan kulmakivistä. Tämän tutkielman tavoitteena on selvittää, miten EU-kansalaisen oikeus toimeentulotukeen määräytyy. Oikeus saada toimeentulotukea perustuu lakiin toimeentulotuesta (1412/1997), mutta oikeutta ei voida määritellä puhtaasti kansallisen lain perusteella tilanteessa, jossa EU-oikeuden määräykset on otettava huomioon. Tutkielmassa luodaankin kokonaiskuva siitä, mitkä määräykset vaikuttavat EU-kansalaisen oikeuteen saada toimeentulotukea. Tämän lisäksi tutkielmassa tehdään katsaus ajankohtaisiin muutoksiin perusturvan kentässä, nimittäin toimeentulotuen perusosan siirtoon Kelan toimeenpantavaksi sekä perustulokokeiluun. EU-kansalaisen oikeus saada sosiaalietuuksia toisessa jäsenvaltiossa perustuu sosiaaliturvan koordinoinnin määräyksiin. Toimeentulotuki ei kuitenkaan kuulu sosiaaliturvan koordinoinnin piiriin, koska se on osa sosiaalihuoltoa. Tutkielmassa tutkitaankin käytännöllisen lainopin keinoin toimeentulotukioikeuden kannalta relevanttia EU- ja kansallista normistoa. Tutkielman lähdeaineiston muodostavat sosiaaliturvajärjestelmien yhteensovittamista koskeva asetus 883/2004 sekä vapaan liikkuvuuden direktiivi 2004/38/EY, ja työntekijöiden vapaata liikkuvuutta koskeva asetus 492/2011. EU-oikeuden dynaamisen luonteen vuoksi käydään läpi myös EU-tuomioistuimen viimeaikaisia ratkaisuja liittyen oikeuteen saada sosiaalihuoltoetuuksia. EU-oikeuden lisäksi syvennytään toimeentulotukeen ja ulkomaalaislakiin liittyvään kotimaiseen lainsäädäntöön ja niiden valmistelutöihin, sekä viranomaisen antamiin ohjeisiin. Tutkielmassa myös luodaan vertaileva katsaus Ruotsissa voimassaoleviin toimeentulotuen myöntämiskäytäntöihin. Tutkielman johtopäätöksenä voidaan todeta, että EU-kansalaisen oikeus toimeentulotukeen on kytköksissä oikeuteen oleskella jäsenvaltiossa. Myös EU-kansalaisen asemalla on merkitystä; taloudellisesti aktiivinen EU-kansalainen on paremmassa asemassa kuin ei-aktiivinen EU-kansalainen. Viranomaisen ohjeissa ei kuitenkaan ole täysin otettu huomioon EU-oikeuden määräyksiä. Lisäksi toimeentulotuen perusoikeudellisen luonteen vuoksi hakijan yksilöllinen tilanne tulisi aina ottaa huomioon. Perustoimeentulotuen toimeenpanon siirtyessä Kelaan on mahdollista laatia ohjeet, jotka koskevat yhdenvertaisesti kaikkia Suomessa oleskelevia, ja toisaalta huomioivat EU-oikeuden velvoitteet. Myös perustulokokeilun suunnittelussa EU-oikeuden määräykset on hyvä huomioida, koska perustulon merkitys suomalaisen sosiaaliturvan kenttään on merkittävä.Siirretty Doriast

Women's experiences of counselling in cases of a screen-positive prenatal screening result

Objective To study women's apprehensions, understanding and experiences of counselling concerning a screen-positive result in screening for fetal chromosomal defects. Methods A questionnaire study including different steps of the prenatal screening process was carried out in Helsinki University Hospital. Women's experiences concerning counselling immediately after a screen-positive result and during further examinations in the Fetal Medicine Unit (FMU) were analyzed. Results 143 women filled in the questionnaire. Less than half of the women considered the primary counselling after a screen-positive result to be explicit (43.9%) and sufficient (43.1%). In the FMU, 88.3% and 89.8% of women were satisfied with the explicitness and sufficiency of counselling. Most women (75%) experienced worry before further examinations but less than half (45%) had considered their personal values concerning diagnostic tests. Half (50.5%) of women expected the worry to continue even if diagnostic tests turn out normal. Most (81%) women were aware that diagnostic tests are voluntary and were confident (85.3%) with their decision to participate. Conclusions After a screen-positive result, women have unanswered questions, experience anxiety and confusion. The possibility of an abnormal screening result is not seriously considered beforehand. To enable an informed consent for prenatal screening, improvements in prescreening counselling during the first visits of antenatal care need to be made.Peer reviewe