Early prenatal disruption; a foetus with features of severe limb body wall sequence, body stalk anomaly and amniotic bands.

Disruption in early pregnancy can cause severe and multiple congenital anomalies in a foetus. Three sequences, Limb-body wall complex (LBWC), amniotic band sequence (ABS) and body-stalk anomaly (BSA) are thought to be caused by disruption. This case report describes a foetus with severe multiple congenital anomalies, that fit the diagnoses of all three sequences, which might advocate these syndromes are a spectrum of one sequence.

[Sonomarkers: subtle ultrasound findings in the 20-week ultrasound examination, which have a low association with some chromosomal and non-chromosomal abnormalities in the fetus]. / Sonomarkers: subtiele echoscopische bevindingen op de 20-wekenecho, die zwak correleren met enkele chromosomale en niet-chromosomale afwijkingen bij de foetus.

Currently all pregnant women residing in the Netherlands are offered second trimester ultrasound screening for the detection of fetal congenital structural abnormalities. This routine ultrasound examination takes place at 18 to 22 weeks' gestation. The ultrasound examination may yield soft markers, which are characterized by subtle morphological changes that are often transient and have little or no pathological significance. Soft markers are of interest because of their association with fetal congenital anomalies, in particular aneuploidy. This may create uncertainty for the pregnant woman and the care provider. Information can be found in the literature about the strength of the association of soft markers, when detected as an isolated finding, and the presence of fetal abnormalities. One or more soft markers are detected during routine ultrasound in approximately 5% of pregnant women. 4 markers (echogenic intracardiac focus, echogenic bowel, mild ventriculomegaly and shortened femur) are associated with Down syndrome. Given the low prevalence of Down syndrome in the general population and the relatively low strength of association with the syndrome, the positive predictive value of these markers is very low. The same is true for choroid plexus cysts, which are associated with trisomy 18. Apart from chromosomal abnormalities, some soft markers (echogenic bowel, mild ventriculomegaly and shortened femur) are also associated with non-chromosomal fetal abnormalities. Renal pyelectasis and the 2-vessel (instead of 3-vessel) umbilical cord are associated with non-chromosomal abnormalities only. It is recommended that pregnant women be informed about the nature and implications of these findings before the examination.

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.

Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm with pulmonary hypoplasia and postnatal pulmonary hypertension. Approximately 50% of CDH cases are associated with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The majority of CDH cases are detected prenatally. In some cases prenatal chromosome analysis reveals a causative chromosomal anomaly, most often aneuploidy. Deletion of 15q26 is the most frequently described structural chromosomal aberration in patients with non-isolated CDH. In this paper we report on two patients with a deletion of 15q26 and phenotypes similar to other patients with CDH caused by 15q26 deletions. This phenotype consists of intra-uterine growth retardation, left-sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in Fryns syndrome. We propose that when this combination of birth defects is identified, either pre- or postnatally, further investigations to confirm or exclude a deletion of 15q26 are indicated, since the diagnosis of this deletion will have major consequences for the prognosis and, therefore, can affect decision making.

Training inter-physician communication using the Dynamic Patient Simulator.

PURPOSE: Clear and adequate communication between physicians is essential in modern medicine. Nevertheless, the medical curricula in The Netherlands lack an identifiable part in their education concerning inter-physician communication training. To train medical students in inter-physician communication skills using the Dynamic Patient Simulator (DPS), the Academic Medical Center at the University of Amsterdam and the Leiden University Medical Center joined in a 2-year project sponsored by the Dutch government. DPS is an educational computer program to create and simulate virtual patients with a wide variety of medical conditions in different clinical settings and over different time frames. To evaluate whether DPS is a suitable method for training medical students in inter-physician communication, we assessed if medical students felt that they had improved their inter-collegial communication skills after the pilot with DPS. Besides, we inquired students on DPS' usability and their satisfaction with DPS. METHODS: We first developed and implemented 20 patient simulations in DPS to be practiced upon by two students asynchronously during a week. These students were situated in different medical institutions, geographically spread over The Netherlands and had to treat the virtual patient as a team supported by DPS. The students had to report their findings and treatment plan in the electronic referral form of DPS. A total of 134 students participated in the pilot. To evaluate inter-physician communication training using DPS we conducted a survey amongst these students who were entering their internships. The evaluation focused on self-assessment of their communication skills, usability of the DPS program, and their satisfaction with DPS as educational format, using multiple questionnaires. DISCUSSION: The outcome of the evaluation showed significant progression in students' feeling of improvement of their skills in different aspects concerning the referral of a patient after participating in the pilot. Besides, students evaluated the usability of DPS positive and were highly satisfied with the education in inter-physician communication training using DPS. Based on these outcomes, nowadays this form of training is incorporated in the curricula on a regular basis.

The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi.

First-trimester chorionic villus sampling has not reached the popularity of second-trimester amniocentesis in prenatal cytogenetic diagnosis, in contrast to initial expectations. We investigated whether a difference in the diagnostic performances of cytogenetic investigation in amniotic fluid (AF) cells and chorionic villi in favour of AF-cells might justify this. Diagnostic performance was measured as laboratory failure rate, karyotype quality (G-band score, rate of follow-up samples, rate of wrong diagnoses), and karyotype representativity (rate of follow-up samples, rate of wrong diagnoses). From 1993-1999, 11 883 AF-samples were investigated (AF-cells). In chorionic villi, short term culture preparations solely were karyotyped from 1993-1996 (n=3499) (STC-villi), short and long-term culture preparations simultaneously provided a sufficient amount of tissue being available from 1997 onwards (n=1829) ((STC+LTC)-villi). Laboratory failure rates were the same after amniocentesis (0.40%) and chorionic villus sampling (0.50%). G-band scores (mean+/-SD) were equal in AF-cells (373+/-38.1) and LTC-villi (364+/-32.6) but significantly lower in STC-villi (311+/-34.6) (p=0.001). Follow-up sampling rates because of quality reasons were the same in AF-cells (0.14%), STC- villi (0.13%) and (STC+LTC)-villi (0.11%). Two wrong diagnoses turned up among AF-cells. Follow-up sampling rates because of representativity reasons differed significantly between AF-cells (0.10%), (STC+LTC)-villi (1.31%), and STC-villi (1.99%) (p<0.001). However, the ratios of the total numbers of follow-up samples and uncertain or abnormal cytogenetic results in STC, and (STC+LTC)-villi at cytogenetic risks > or =3% (0.132 and 0.160, respectively) were equal to that in AF-cells at risks <3% (0.155). Two wrong diagnoses were made in STC-villi. Diagnostic performance improved in the rank order of STC-villi, (STC+LTC)-villi and AF-cells. At cytogenetic risks > or =3%, (STC+LTC)-villi showed a diagnostic performance equal to that in AF-cells. This might justify a selective use of chorionic villus sampling.

In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.

Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work-up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation. Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive lysosomal storage disease, caused by the deficiency of the enzyme beta-glucuronidase. The most severe form of MPS VII manifests itself by non-immune fetal hydrops. Tests for the diagnosis of metabolic disorders, especially lysosomal diseases, are essential when the major causes of hydrops fetalis have been excluded. The presence of a beta-glucosidase deficiency, Gaucher's disease, in the infant of the patient's sister emphasizes the importance of a complete family history in consanguineous couples and the risk for several recessive diseases in some families.