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  • 1.
    Belachew, Johanna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD). Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Mulic-Lutvica, Ajlana
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Three-dimensional ultrasound does not improve diagnosis of retained placental tissue compared to two-dimensional ultrasound2015In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 94, no 1, p. 112-116Article in journal (Refereed)
    Abstract [en]

    The study objective was to improve ultrasonic diagnosis of retained placental tissue by measuring the volume of the uterine body and cavity using three-dimensional (3D) ultrasound. Twenty-five women who were to undergo surgical curettage due to suspected retained placental tissue were included. The volume of the uterine body and cavity was measured using the VOCAL imaging program. Twenty-one women had retained placental tissue histologically verified. Three of these had uterine volumes exceeding the largest volume observed in the normal puerperium. Seventeen of the 21 women had a uterine cavity volume exceeding the largest volume observed in the normal puerperium. In all 14 cases examined 28 days or more after delivery the cavity volume exceeded the largest volume observed in the normal puerperium. A large cavity volume estimated with 3D ultrasound is indicative of retained placental tissue. However, 3D ultrasound adds little or no diagnostic power compared to 2D ultrasound.

  • 2.
    Belachew, Johanna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i D län (CKFD).
    Mulic-Lutvica, Ajlana
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Longitudinal study of the uterine body and cavity with three-dimensional ultrasonography in the puerperium2012In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 91, no 10, p. 1184-1190Article in journal (Refereed)
    Abstract [en]

    Objective.

    To describe uterine involution in the puerperium with three-dimensional ultrasound.

    Design.

    Prospective, longitudinal study.

    Setting.

    Fetal medicine unit, department of obstetrics and gynecology, university referral hospital, Uppsala, Sweden.

    Population.

    Fifty women with uncomplicated deliveries and puerperium between February 2009 and February 2010.

    Methods.

    Three-dimensional ultrasound was used to measure the uterine body and cavity volumes. The volume data set was analysed using virtual organ computer-aided analysis (VOCAL) with a 30 degree rotation step. Measurements were performed transabdominally on days 1, 7 and 14 and transvaginally on days 28 and 56 postpartum. Parity, gestational age, birthweight, smoking, breastfeeding and blood loss were recorded.

    Main outcome measures.

    Uterine body and cavity volumes. Results. Median uterine body volume was 756 cm3 on day 1, 440 cm3 on day 7, 253 cm3 on day 14, 125 cm3 on day 28 and 68 cm3 on day 56. Median cavity volume was 22 cm3 on day 1, 18 cm3 on day 7, 6 cm3 on day 14, 1 cm3 on day 28 and not measurable on day 56. The interindividual variation of uterine body and cavity volumes was most pronounced on day 1 and decreased throughout the observation period. Intrauterine content was found in 36% of the women on day 1, 95% on day 7, 87% on day 14 and 28% on day 28.

    Conclusions.

    Three-dimensional ultrasound is a non-invasive tool suitable for measurement of the uterine body and cavity volumes during the puerperium. The volumes decreased in a similar pattern in the study population.

  • 3.
    Belachew, Johanna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Cnattingius, S
    Clinical Epidemiology Unit, Department of Medicine, Karolinska Institute, Solna, Sweden.
    Mulic-Lutvica, Ajlana
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD). Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Wikström, Anna-Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Risk of retained placenta in women previously delivered by caesarean section: a population-based cohort study.2014In: British Journal of Obstetrics and Gynecology, ISSN 1470-0328, E-ISSN 1471-0528, Vol. 121, no 2, p. 224-229Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: To evaluate whether women with a caesarean section at their first delivery have an increased risk of retained placenta at their second delivery.

    DESIGN: Population-based cohort study.

    SETTING: Sweden.

    POPULATION: All women with their first and second singleton deliveries in Sweden during the years 1994-2006 (n = 258 608). Women with caesarean section or placental abruption in their second pregnancy were not included in the study population.

    METHODS: The risk of retained placenta at second delivery was estimated for women with a first delivery by caesarean section (n = 19 458), using women with a first vaginal delivery as reference (n = 239 150). Risks were calculated as odds ratios by unconditional logistic regression analysis with 95% confidence intervals (95%) after adjustments for maternal, delivery, and infant characteristics.

    MAIN OUTCOME MEASURES: Retained placenta with normal (≤1000 ml) and heavy (>1000 ml) bleeding.

    RESULTS: The overall rate of retained placenta was 2.07%. In women with a previous caesarean section and in women with previous vaginal delivery, the corresponding rates were 3.44% and 1.96%, respectively. Compared with women with a previous vaginal delivery, women with a previous caesarean section had an increased risk of retained placenta (adjusted OR 1.45; 95% CI 1.32-1.59), and the association was more pronounced for retained placenta with heavy bleeding (adjusted OR 1.61; 95% CI 1.44-1.79).

    CONCLUSIONS: Our report shows an increased risk for retained placenta in women previously delivered by caesarean section, a finding that should be considered in discussions of mode of delivery.

  • 4.
    Belachew, Johanna
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Obstetrics and Reproductive Health Research.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Obstetrics and Reproductive Health Research.
    Mulic-Lutvica, Ajlana
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Obstetrics and Reproductive Health Research.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD). Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Obstetrics and Reproductive Health Research.
    Placental location, postpartum hemorrhage and retained placenta in women with a previous cesarean section delivery: a prospective cohort study2017In: Upsala Journal of Medical Sciences, ISSN 0300-9734, E-ISSN 2000-1967, Vol. 122, no 3, p. 185-189Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: Women previously giving birth with cesarean section have an increased risk of postpartum hemorrhage (PPH) and retained placenta. The objective of this study was to determine if anterior placental location increased the risk of PPH and retained placenta in such women.

    MATERIALS AND METHODS: We performed a prospective cohort study on 400 women with cesarean section delivery in a previous pregnancy. Ultrasound examinations were performed at gestational week 28-30, and placental location, myometrial thickness, and three-dimensional vascularization index (VI) were recorded. Data on maternal age, parity, BMI, smoking, gestational week at delivery, induction, delivery mode, oxytocin, preeclampsia, PPH, retained placenta, and birth weight were obtained for all women. Outcome measures were PPH (≥1,000 mL) and retained placenta.

    RESULTS: The overall incidence of PPH was 11.0% and of retained placenta 3.5%. Twenty-three women (11.8%) with anterior placenta had PPH compared to 12 (6.9%) with posterior or fundal locations. The odds ratio was 1.94, but it did not reach statistical significance. There was no significant risk increase for retained placenta in women with anterior placentae. Seven of eight women with placenta previa had PPH, and four had retained placenta.

    CONCLUSIONS: The overall risk of PPH and retained placenta was high for women with previous cesarean section. Anterior location of the placenta in such women tended to impose an increased risk for PPH but no risk increase of retained placenta. Placenta previa in women with previous cesarean section is associated with a high risk for PPH and retained placenta.

  • 5.
    Eurenius, K
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Axelsson, O
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Sjoden, P.O.
    Department of Public Health and Caring Sciences.
    Pregnancy, ultrasound screening and smoking attitudes.1996In: Gynecologic and Obstetric Investigation., Vol. 42, no 2, p. 73-6Article in journal (Refereed)
  • 6.
    Larsson, Margareta
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Aneblom, Gunilla
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Westerling, Ragnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Social Medicine.
    Tydén, Tanja
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Limited impact of an intervention regarding emergency contraceptive pills in Sweden: repeated surveys among abortion applicants2006In: European journal of contraception & reproductive health care, ISSN 1362-5187, E-ISSN 1473-0782, Vol. 11, no 4, p. 270-276Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: To evaluate a community-based intervention consisting of an information campaign and advance provision of emergency contraceptive pills (ECP) to abortion applicants. METHODS: Submission of repeated waiting room questionnaires to abortion applicants in two cities in mid-Sweden; one intervention city (IC) and one comparison city (CC) in 2002 (IC = 92, CC = 95) and 2003 (IC = 244, CC = 204). RESULTS: The overall response rate was 90%. The percentage of women who had undergone an abortion within the previous year had decreased in the intervention group but not in the comparison group. Almost two-thirds (63%) of the targeted women had noticed the information campaign and one out of three (33%) who had visited a family planning clinic recalled being given information about ECP. There was a small decline in the use of combined oral contraceptives and intrauterine devices over time. After the intervention, women in the intervention city had better knowledge of ECP and had used it more than women in the comparison city did. CONCLUSIONS: More than half of the targeted women had noticed the information campaign and it may have had a limited impact. Further investigations are needed to determine whether advance supply of ECP to abortion applicants can reduce repeat abortions.

  • 7.
    Larsson, Margareta
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Aneblom, Gunilla
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Westerling, Ragnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Social Medicine.
    Tydén, Tanja
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    The adoption of emergency contraceptive pills in Sweden: a repeated cross-sectional study among abortion applicants2006In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 85, no 9, p. 1142-1143Article in journal (Refereed)
  • 8.
    Larsson, Margareta
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Westerling, Ragnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences.
    Tydén, Tanja
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Emergency Contraceptive Pills in Sweden: Evaluation of an information campaign2004In: BJOG : an international journal of obstetrics and gynaecology, ISSN 1470-0328, Vol. 111, no 8, p. 820-827Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: To evaluate a community-based intervention regarding emergency contraceptive pills, including a mass media campaign and information to women visiting family planning clinics.

    DESIGN: Quasi-experimental.

    SETTING: Two counties in Sweden.

    POPULATION: Eight hundred randomly selected women aged 16-30 years, 400 women in the intervention group and 400 in a comparison group.

    METHODS: Postal questionnaires before (2002) and after (2003) the intervention.

    MAIN OUTCOME MEASURES: Exposure to the intervention, knowledge, attitudes, practices and intention to use emergency contraceptive pills.

    RESULTS: Before the intervention, the response rate was 71% (n= 564); after the intervention, the corresponding figure was 83% (n= 467); overall response rate 58%. Two-thirds (64%) of the targeted women had noticed the information campaign. One out of six who had visited a family planning clinic during the intervention year recalled being given information about emergency contraceptive pills. Specific knowledge and attitudes improved over time in both groups, but there was no difference in change between the groups. The proportion of women who had used emergency contraceptive pills increased from 27% to 31% over time. Intention to use emergency contraceptive pills in case of need was reported by 74% of the women and remained stable over time, but logistic regression showed that information during the previous year contributed to willingness to use the method in the intervention group.

    CONCLUSIONS: Knowledge, attitudes and practices about emergency contraceptive pills increased in both groups. Emergency contraceptive pills is gradually becoming a more widely known, accepted and used contraceptive method in Sweden, a trend that may have limited the impact of the intervention.

  • 9.
    Larsson, Margareta
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Westerling, Ragnar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences.
    Tydén, Tanja
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences.
    Emergency contraceptive pills over-the-counter: a population-based survey of young Swedish women2004In: Contraception, ISSN 0010-7824, E-ISSN 1879-0518, Vol. 69, no 4, p. 309-315Article in journal (Refereed)
    Abstract [en]

    One year after emergency contraceptive pills (ECP) had become prescription-free, we sent a questionnaire to 800 randomly selected women in mid-Sweden. The aim was to investigate women's knowledge, attitudes and practices regarding the method. The response rate was 71% (n = 564). The majority of the women, 65%, would prefer to purchase ECP over-the-counter (OTC) in a pharmacy. Attitudes toward the method were predominantly positive, but one fourth (24%) had worries about side effects and one third (33%) considered ECP to be a kind of abortion. Logistic regression showed that correct knowledge of and positive attitudes toward ECP contributed to estimated future use of ECP. Although women favored the OTC option, persistent misunderstanding about ECP implies that routine information from gynecologists and health professionals as well as media campaigns is needed along with the deregulation in order to make ECP an accepted and properly used contraceptive method.

  • 10.
    Lutvica, Ajlana
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Belachew, Johanna
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Longitudinal study of the uterine body and cavity with 3D-ultrasonography in the puerperium2012In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 91, p. 109-109Article in journal (Other academic)
  • 11.
    Mulic Lutvica, A
    et al.
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Eurenius, K
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    Axelsson, Ove
    Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Women's and Children's Health.
    P13.24 Longitudinal study of uterine artery Doppler after normal vaginal delivery2006Other (Other (popular scientific, debate etc.))
  • 12.
    Mulic-Lutvica, Ajlana
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Axelsson, Ove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Longitudinal study of Doppler flow resistance indices of the uterine arteries after normal vaginal delivery2007In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 86, no 10, p. 1207-1214Article in journal (Refereed)
    Abstract [en]

    Objectives. To measure Doppler flow resistance indices in the uterine arteries, and to observe when the early diastolic notches appear during the normal puerperium. Methods. Some 45 women took part in this prospective longitudinal study after normal, vaginal delivery. Ultrasound examinations were scheduled for days 1, 3, 7, 14, 28 and 56 postpartum. A transabdominal probe was used during the first two postpartum weeks, and a transvaginal probe for the later examinations. The pulsatility (PI) and resistance (RI) indices in the uterine arteries were measured, and the presence or absence of early diastolic notches was recorded. Results. Compared to day one, the resistance indices did not change markedly until day 28 postpartum. The mean PI was 1.23 at day 1, 1.22 at day 3, 1.22 at day 7, 1.33 at day 14, 1.81 at day 28, and 2.25 at day 56. The mean RI was 0.65 at day 1, 0.65 at day 3, 0.66 at day 7, 0.65 at day 14, 0.77 at day 28, and 0.84 at day 56. The presence of at least 1 uterine artery notch was found in 13.3% of the women at day 1, and in 90.6% at day 56 postpartum. Bilateral notches were recorded in 6.7% of the women at day 1, and in 84.4% at day 56 postpartum. Conclusion. Reference values of the resistance indices from uncomplicated puerperium are needed when the diagnostic efficacy of Doppler ultrasound for pathological conditions is to be tested. This study confirms that the time needed for the vascular physiology to revert from a pregnant to a non-pregnant state appears to be longer than previously assumed.

  • 13.
    Wilbe, Maria
    et al.
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Ekvall, Sara
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Eurenius, Karin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
    Ericson, Katharina
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Molecular and Morphological Pathology.
    Casar-Borota, Olivera
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Molecular and Morphological Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Klar, Joakim
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Dahl, Niklas
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Ameur, Adam
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Annerén, Göran
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Bondeson, Marie-Louise
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
    MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).2015In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 52, no 3, p. 195-202Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). Mutations in components of the acetylcholine receptor (AChR) pathway have previously been associated with FADS.

    METHODS AND RESULTS: We report on a family with recurrent fetal loss, where the parents had five affected fetuses/children with FADS and one healthy child. The fetuses displayed no fetal movements from the gestational age of 17 weeks, extended knee joints, flexed hips and elbows, and clenched hands. Whole exome sequencing of one affected fetus and the parents was performed. A novel homozygous frameshift mutation was identified in muscle, skeletal receptor tyrosine kinase (MuSK), c.40dupA, which segregated with FADS in the family. Haplotype analysis revealed a conserved haplotype block suggesting a founder mutation. MuSK (muscle-specific tyrosine kinase receptor), a component of the AChR pathway, is a main regulator of neuromuscular junction formation and maintenance. Missense mutations in MuSK have previously been reported to cause congenital myasthenic syndrome (CMS) associated with AChR deficiency.

    CONCLUSIONS: To our knowledge, this is the first report showing that a mutation in MuSK is associated with FADS. The results support previous findings that CMS and/or FADS are caused by complete or severe functional disruption of components located in the AChR pathway. We propose that whereas milder mutations of MuSK will cause a CMS phenotype, a complete loss is lethal and will cause FADS.

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