Karin Eurenius

Second trimester ultrasound screening performed by midwives; sensitivity for detection of fetal anomalies

BACKGROUND To assess the sensitivity for detection of fetal anomalies by a second trimester ultrasound screening program performed in a way representative of a majority of Swedish obstetrical departments. The examinations were performed at the ultrasound division of the Department of Obstetrics and Gynecology at the University Hospital of Uppsala, Sweden. METHOD A prospective study covering a two-year period. Eight thousand two hundred and twenty-eight unselected, consecutive pregnant women (8345 fetuses) were examined. The ultrasound scans were performed at a gestational age of 15-22 weeks by specially trained midwives. All fetal anomalies suspected at the ultrasound screening were recorded. Follow-up of all scanned fetuses was done through neonatal reports, records from the pediatric department, a national malformation registry and autopsies. All live-born infants were followed one year after birth. Main outcome measures were sensitivity, specificity, and positive predictive value for detection of fetal anomalies and prevalence of fetal anomalies. RESULTS In all 145 fetuses/infants with confirmed anomalies were identified (prevalence 1.7%). Thirty-two were detected by second trimester ultrasound screening (sensitivity 22.1%). Twenty false positive cases were identified, of which fifteen were ruled out on the same day the suspicion arose and five were transient findings. The specificity was 99.8% and the positive predictive value 61.5% CONCLUSIONS When performing a second trimester ultrasound screening program, prenatal diagnosis of fetal anomalies will be part of the procedure whether this is a primary aim or not. It is therefore of great importance that the pregnant women receive adequate information and that the voluntariness of participation is stressed. In this study the sensitivity was low. Standardizing the scanning procedure (check-list for fetal anatomy) and improving the education of the operators are feasible ways to increase the sensitivity.

Outcome for fetuses with abdominal wall defects detected by routine second trimester ultrasound

The outcome for 70 fetuses with abdominal wall defects detected by routine second trimester ultrasound during the years 1983‐90 was investigated. In 65 of the 70 cases the prenatal diagnoses were correct. Thirty‐two women had their pregnancies terminated by legal abortions. Thirty‐eight pregnancies continued. Six of these ended with spontaneous abortion or intrauterine fetal death. Thirty‐two infants were born alive. Nearly all cases with associated malformations and all cases with chromosomal defects were in the omphalocele group. The neonatal survival for infants with gastroschisis and infants with omphalocele without associated malformations or chromosomal defects was high (96%).

Longitudinal study of Doppler flow resistance indices of the uterine arteries after normal vaginal delivery

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.

Risk of retained placenta in women previously delivered by caesarean section: a population-based cohort study.

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

Pregnancy, Ultrasound Screening and Smoking Attitudes

This questionnaire study was performed to evaluate screening as a tool to help reduce smoking among pregnant women and their partners. Three hundred women and their partners coming for ultrasound screening were asked to participate. Twenty-two percent of the women and 21% of the men were smoking regularly before pregnancy. Fifty-four percent of the women changed their smoking habits after knowledge of the pregnancy and before the scan. The corresponding figure for men was 19%. Before the scan 54% of the women and 49% of the men estimated their ability to stop smoking later in pregnancy as higher than 50%. The scan itself did not increase this figure. Among women with high consumption of cigarettes, the estimated ability to stop smoking was low.

MuSK : a new target for lethal fetal akinesia deformation sequence (FADS)

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.

Uterine artery Doppler ultrasound in postpartum women with retained placental tissue

We measured prospectively uterine artery Doppler flow resistance indices and looked for hyper‐vascular areas in 20 patients who were to undergo surgical evacuation due to clinical and ultrasound‐based suspicion of retained placental tissue (RPT). We compared these findings with those of the normal puerperium. All 20 patients underwent surgical procedures. Placental tissue was histologically confirmed in 19 patients. Mean pulsatility and mean resistance values were below the 10th percentile for eight and seven women, respectively, but overlapping was extensive. A hyper‐vascular area was observed in 12 patients with histological confirmation. In eight cases, six of them with histological confirmation, no hyper‐vascular area was observed. Although RPT is associated with lower resistance indices in the uterine arteries, this knowledge has limited value as a diagnostic tool for RPT. Absence of a hyper‐vascular area in the myometrium does not exclude RPT, but its presence is common finding associated with RPT and should not be misinterpreted as an arterio‐vascular malformation.

Emergency contraceptive pills in Sweden: evaluation of an information campaign

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

Limited impact of an intervention regarding emergency contraceptive pills in Sweden--repeated surveys among abortion applicants.

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.

Longitudinal study of the uterine body and cavity with three-dimensional ultrasonography in the puerperium.

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.