Finn Stener Jørgensen

Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study

Objectives To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down’s syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates in the screened population in 2005 and 2006. Design Population based cohort study. Setting 19 Danish departments of gynaecology and obstetrics and a central cytogenetic registry 2000-7. Participants 65 000 pregnancies per year. Main outcome measures The primary outcomes measured were number of fetuses and newborn infants with Down’s syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants with a postnatal diagnosis of Down’s syndrome. Results The number of infants born with Down’s syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection rate in the screened population in 2005 was 86% (95% confidence interval 79% to 92%) and in 2006 was 93% (87% to 97%). The corresponding false positive rates were 3.9% (3.7% to 4.1%) and 3.3% (3.1% to 3.4%). Conclusion The introduction of a combined risk assessment during the first trimester at a national level in Denmark halved the number of infants born with Down’s syndrome. The strategy also resulted in a sharp decline in the number of chorionic villus samplings and amniocenteses carried out, even before full implementation of the policy.

Influence of chorionicity on perinatal outcome in a large cohort of Danish twin pregnancies.

To assess outcome in twin pregnancies according to chorionicity.

Knowledge of prenatal screening and psychological management of test decisions.

To study associations between pregnant womens knowledge of prenatal screening and decisional conflict in deciding whether to participate in first‐trimester screening for Down syndrome in a setting of required informed consent, and to study associations between knowledge and personal wellbeing, and worries in pregnancy.

Treatment of severe fetal chylothorax associated with pronounced hydrops with intrapleural injection of OK-432.

We describe a case of a 25‐week fetus with severe bilateral pleural effusion, marked ascites, skin edema, an anterior thick (hydropic) placenta and polyhydramnios in which the most probable diagnosis was congenital chylothorax. Treatment with a pleuroamniotic shunt was planned, however the location of the fetus just below the anterior placenta made the placement of the shunt too dangerous. We therefore decided to use intrapleural injection of OK‐432. From week 29, the lungs looked normal, the pleural effusion had resolved and the thoracic circumference was within normal limits. The severe ascites persisted throughout the pregnancy and a total volume of 3680 mL was removed on several occasions. A Cesarean section was performed at 38 weeks and a normal male was delivered. Continuous positive airway pressure was needed on the first 4 days but after a week the situation was stable. On day 8, an X‐ray showed normally developed lungs. OK‐432 appears to have prevented pulmonary hypoplasia in our patient. Copyright

MULTISCAN ‐ A Scandinavian multicenter second trimester obstetric ultrasound and serum screening study

AIM To study the detection rates of second trimester ultrasound screening for neural tube defects (NTD), abdominal wall defects (AWD) and Downs syndrome (DS) in low risk populations at tertiary centers, and to compare the ultrasound screening detection rates with those that were obtainable by biochemical serum screening (double test: alpha-fetoprotein/human chorion gonadotrophin/age test). STUDY DESIGN Prospective multicenter study with a three year inclusion period: 1/1/1989-31/12/1991. SUBJECTS 27,844 low-risk women at 18-34 years of age who had a second trimester ultrasound screening examination. Of these, 10,264 also had a serum test. METHODS An ultrasound malformation scan and a serum test were carried out at 17-19 weeks of gestation. Risk calculations regarding DS were based on alpha-fetoprotein, human chorion gonadotrophin and maternal age; performed retrospectively for the first two years. RESULTS In total 73 cases were identified in the study population: NTD (n=34), AWD (n=7) and DS (n=32). The detection rates, (%, with 95% confidence interval) for ultrasound screening were: NTD: 79.4 (62.1-91.3); AWD: 85.7 (42.1-99.6); DS: 6.3 (0.8-20.8). In the subgroup of women who had both tests, the detection rates for ultrasound screening vs double test were: NTD: 62.5 (24.5-91.5) vs 75.0 (34.9-96.8); AWD: 66.7 (9.4-99.2) vs 100 (29.2-100.0); DS: 7.7 (0.2-36.0) vs 46.2 (19.2-74.9). The false positive rates (%) for ultrasound screening vs double test were: NTD: 0.01/3.3; AWD: 0.01/3.3; DS: 0.1/4.0. CONCLUSION Second trimester ultrasound screening in a low risk population gave a low detection rate for fetal DS (6.3%) and an acceptable detection rate for NTD (79.4%) and AWD (85.7%). In the subgroup of women who had both tests, serum screening performed better than ultrasound as applied in the present study, especially regarding DS.

Epidemiological studies of obstetric ultrasound examinations in Denmark 1989-1990 versus 1994-1995

BACKGROUND The purpose of the study was to describe number, type, time and place for all obstetric ultrasound examinations that pregnant women in Denmark had performed during their pregnancies. Further, to compare these results with results from a similar national survey performed five years previously. METHODS During a two-week period in February 1990 and a two-week period in May 1995, all delivery departments in Denmark (1990: 57/1995: 49) participated in two identical designed studies with the aim as described above. For all women who delivered in these periods variables were recorded from the womens case records and after interview. After the exclusion of 108/145 women without complete registrations, the material consisted of 2268/2315 women; approximately 3.7%/3.4% of all deliveries in Denmark 1990/1995. The chi2 and t-test were used for statistical analyses with a statistical significance level of 5%. RESULTS Of all obstetric ultrasound examinations 99%/96% took place in hospitals. Twenty/seven percent of the women had no examination during their pregnancies. The mean number of obstetric ultrasound examinations was 1.5/1.9 for all women and 1.9/2.1 for women who had at least one examination. In total 40%/54% of the women were offered a screening examination. Women with an offer of screening had a mean number of examinations: 1.8/2.0 and women without an offer: 1.3/1.9 (1990: p<0.05; 1995: non-significant). CONCLUSION The studies have shown an increasing number of women with an offer of ultrasound screening and in general an increased use of ultrasound examinations in obstetrics during the five year period 1990-1995 in Denmark.

The Danish Fetal Medicine Database: establishment, organization and quality assessment of the first trimester screening program for trisomy 21 in Denmark 2008–2012

To describe the establishment and organization of the Danish Fetal Medicine Database and to report national results of first‐trimester combined screening for trisomy 21 in the 5‐year period 2008–2012.

First‐trimester Down syndrome screening: pregnant women's knowledge

The primary aim of this study was to assess pregnant womens knowledge of first‐trimester combined Down syndrome screening in a setting of required informed consent. As the secondary aim, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including those informed in different ways about prenatal examinations.

Declining an alpha-fetoprotein test in pregnancy, why and who?

Objective. The aim of the study was to elucidate the questions: 1) Why are some women declining an alpha‐fetoprotein (AFP)‐test? and 2) Do women who decline an AFP‐test differ in background and in attitudes towards abortion issues from women who accept the test? Furthermore the study was aimed at clarifying some aspects of the decision process.

Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark.