Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy.

INTRODUCTION: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program. MATERIALS AND METHODS: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation. RESULTS: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p < 0.05). Median gestational age at detection was 19 + 6 (interquartile range [IQR] 15 + 4 - 20 + 5) in group 1 versus 20 + 3 (IQR: 20 + 0 - 21 + 1) in group 2 (p < 0.001). In group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rate in group 1 and group 2 were 48% and 27%, respectively (p < 0.01). Median gestational age at termination did not differ between the two groups. CONCLUSION: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.

Increased nuchal translucency before 11 weeks of gestation: Reason for referral?

OBJECTIVES: In this era of non-invasive-prenatal testing (NIPT), when dating scans are usually performed around 10 weeks of gestation, an increased NT before the official established timeframe (CRL between 45 and 84 mm) may be encountered. Information on management of these pregnancies is limited. Therefore, we evaluated the relationship between an early increased NT and adverse pregnancy outcome. Secondary, we evaluated the rate of chromosomal anomalies that might have been missed in first trimester should solely NIPT be performed as first-tier test, and the rate of adverse pregnancy outcome if NT normalizes before 14 weeks. METHODS: We performed a retrospective cohort study that included all pregnancies between January 1, 2007 and June 1, 2020 in Amsterdam UMC locations AMC and VUmc. We included fetuses with a crown-rump length (CRL) < 45 mm (∼11 weeks) and a nuchal translucency (NT) measurement ≥2.5 mm. Fetuses referred with an early increased NT and a major fetal anomaly at the dating scan were excluded, as were cases of parents with a family history of monogenetic disease(s) or recognized carriers of a balanced translocation. RESULTS: We included 120 fetuses of which 66.7% (80/120) had an adverse pregnancy outcome. Congenital anomalies were present in 56.7% (68/120), 45.8% (55/120) had a chromosomal anomaly. The prevalence of congenital anomalies was 30.3% in fetuses with NT 2.5-3.4 mm compared to 66.7% with NT ≥ 3.5 mm (p < 0.001). 16.7% (20/120) had a chromosomal anomaly that might have been missed by conventional NIPT in first trimester. We found an adverse pregnancy outcome of 24% in the group with a normalized NT compared to 78.1% in the group with a persistently increased NT (p < 0.001). CONCLUSION: An early increased NT should make the sonographer alert. In this selected cohort, an early increased NT was associated with a high probability of having an adverse pregnancy outcome. Regardless of CRL, we deem that an early increased NT ≥ 3.5 mm warrants referral to a Fetal Medicine Unit for an extensive work-up. NT normalization seems favorable, but a prospective study should define the appropriate work-up for NT in the lower range (2.5-3.4 mm).

Effect of education and attitude on health professionals' knowledge on prenatal screening.

INTRODUCTION: Ongoing developments in prenatal anomaly screening necessitate continuous updating of counsellors' knowledge. We explored the effect of a refresher counselling course on participants' knowledge of prenatal screening. METHODS: We investigated the association between knowledge and counsellors' working experience. Also, the association between knowledge and counsellors' attitude towards prenatal screening was determined. All counsellors in the North-West region of the Netherlands were invited to attend a refresher counselling course and fill in both a pre-course and a post-course questionnaire. The participants consisted of midwifes, sonographers and gynaecologists. A 55-item questionnaire assessed pre-course (T0) and post-course (T1) knowledge. At T0, counsellors' attitude towards the prenatal screening program was assessed and its association with knowledge analysed. RESULTS: Of 387 counsellors, 68 (18%) attended the course and completed both questionnaires. Knowledge increased significantly from 77.7% to 84.6% (p<0.01). Scores were lowest regarding congenital heart diseases. Participants with ultrasound experience scored higher on T0, but improvement was seen in participants with and without ultrasound experience. Participants with a positive attitude towards a free-of-charge first trimester combined test had higher knowledge scores than participants with a negative attitude (62% vs 46%; p=0.002). CONCLUSIONS: A refresher course improved counsellors' knowledge on prenatal screening. Ultrasound experience and a positive attitude towards free screening may be associated with higher knowledge levels. Participating in a mandatory refresher counselling course is useful for the continuous improvement of healthcare practitioners' knowledge. More research on the effect of knowledge and attitude on the quality of prenatal screening is necessary.

Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program.

OBJECTIVE: To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. METHODS: A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was between 2009 and 2013. Outcome measures were gestational age at diagnosis, presence of additional anomalies and pregnancy outcome. RESULTS: A total of 141 exomphalos and 44 gastroschisis cases were included in the study, of which, respectively, 96 and 95% were diagnosed prenatally. The majority of the cases are visualized prior to the 20-week scan. In the exomphalos group, 83% had additional anomalies of which 57% had a chromosomal anomaly. Additional anomalies were present in 11% of the gastroschisis cases of which 40% had a chromosomal anomaly. The pregnancy termination rate was 61% (exomphalos) and 14% (gastroschisis). CONCLUSION: Almost all exomphalos and gastroschisis cases are diagnosed prenatally, the majority in the first trimester. Associated anomalies are far more common in exomphalos with a fourfold lower survival rate than gastroschisis. In the exomphalos group, the pregnancy termination rate doubled, while in the gastroschisis group the rate remained low. © 2017 John Wiley & Sons, Ltd.

Assistive technology and self-rated health in comparison with age peers: a longitudinal study in 55-64-year-olds.

PURPOSE: To determine changes in self-rated health in comparison with age peers (SRH-AP) among 55-64-year-olds, as affected by (1) initiating, (2) ceasing, and (3) prolonging the use of assistive technology (AT). METHODS: Data included two national cohorts of 55-64-year-olds from the Longitudinal Aging Study Amsterdam (total N = 1968), with baseline cycles in 1992-93 and 2002-03 and 3-year follow-ups. The effect of AT use on SRH-AP was studied in analyses of variance for repeated measurements, adjusting for age and self-reported disability. RESULTS: Respondents using AT reported poorer SRH-AP than respondents not using AT. Over time disability increased for respondents prolonging and initiating AT use and decreased for respondents ceasing AT use. No major changes were seen in SRH-AP over time, except for a small improvement for respondents prolonging AT use. CONCLUSIONS: AT use had a negative influence on SRH-AP, but this influence subsided over time for prolonged AT use. Despite longitudinal changes in disability, there was a marked stability of SRH-AP over time which may be attributed to AT use. Implications for Rehabilitation Both the proportion of 55-64-year-olds using AT and the proportion reporting disability was significantly higher in the recent cohort as compared to the early cohort. 55-64-Year-olds not using AT rated their health compared with age peers (SRH-AP) better than those using AT. 55-64-Year-olds who prolonged the use of AT reported the poorest ratings of SRH-AP, but also showed the clearest improvement in SRH-AP, suggesting that the initial negative influence of AT use on SRH-AP may subside over time.