ABSTRACT
OBJECTIVE: To demonstrate the use of a novel three-dimensional (3D) virtual reality (VR) system in the visualization of first trimester growth and development in a case of confined placental trisomy 16 mosaicism (CPM+16). DESIGN: Case report. SETTING: Prospective study on first trimester growth using a 3D VR system. PATIENT(S): A 34-year-old gravida 1, para 0 was seen weekly in the first trimester for 3D ultrasound examinations. INTERVENTION(S): Chorionic villus sampling was performed because of an enlarged nuchal translucency (NT) measurement and low pregnancy-associated plasma protein-A levels, followed by amniocentesis. RESULT(S): Amniocentesis revealed a CPM+16. On two-dimensional (2D) and 3D ultrasound no structural anomalies were found with normal fetal Dopplers. Growth remained below the 2.3 percentile. At 37 weeks, a female child of 2010 g (<2.5 percentile) was born. After birth, growth climbed to the 50th percentile in the first 2 months. CONCLUSION(S): The I-Space VR system provided information about phenotypes not obtainable by standard 2D ultrasound. In this case, the delay in growth and development could be observed very early in pregnancy. Since first trimester screening programs are still improving and becoming even more important, systems such as the I-Space open a new era for in vivo studies on the physiologic and pathologic processes involved in embryogenesis.
Subject(s)
Chromosomes, Human, Pair 16 , Fetal Growth Retardation/diagnostic imaging , Image Interpretation, Computer-Assisted , Mosaicism , Trisomy , Ultrasonography, Prenatal , User-Computer Interface , Adult , Amniocentesis , Chorionic Villi Sampling , Female , Fetal Growth Retardation/genetics , Fetal Growth Retardation/metabolism , Humans , Imaging, Three-Dimensional , Infant, Low Birth Weight , Infant, Newborn , Live Birth , Pregnancy , Pregnancy Trimester, Third , Pregnancy-Associated Plasma Protein-A/analysisABSTRACT
OBJECTIVE: To call attention to differences in first trimester risk estimates for trisomy 21, as calculated by two different software packages. METHODS: A total of ninety-four pregnant women who had a first trimester risk assessment for trisomy 21 that was based on maternal age, biochemical analysis and a nuchal translucency (NT) measurement. Two commonly used software packages were used for the estimation of individual risks (i.e. Wallac-Perkin-Elmer software and Fetal Medicine Foundation software). RESULTS: Risk estimates derived from each software programme were strikingly different. In each case the discrepancy in reported magnitude of risk resulted from disparities between the two calculation methods for the assessment of the individual risk for trisomy 21. The disparities in risk estimates can be explained by significant differences in reported likelihood ratios for biochemical analyses (P = 0.01), NT measurements (P < 0.0001) and both screening parameters combined P = 0.003). CONCLUSION: It is illustrated that the lack of agreement between these risk calculation methods could give rise to major counselling problems. In order to avoid confusion, there is a need for estimating individual risks of trisomy 21 in a standardized way. It is proposed to select a set of parameters that have a proven track record as judged by detection and false positive rates and then use that set exclusively, while simultaneously monitoring its performance.
Subject(s)
Down Syndrome/diagnosis , Genetic Testing/standards , Risk Assessment/standards , Software , Female , Genetic Testing/methods , Humans , Pregnancy , Pregnancy Trimester, First , Prenatal DiagnosisABSTRACT
OBJECTIVE: to explore the opinions of midwives on the desirability of preconception care for all couples contemplating pregnancy, their willingness to introduce preconception care to midwifery practice and, if it were to be implemented, the necessary conditions, including knowledge, postgraduate education and referral possibilities for successful implementation in the community. PARTICIPANTS: all community midwives (n = 129) working in 49 midwifery practices that refer their high-risk clients to the Erasmus University Medical Centre, Rotterdam (the Netherlands). SETTING: Rotterdam and its immediate surrounding communities. DESIGN: midwives working at the midwifery practices were recruited by telephone. All agreed to participate, and subsequently received a questionnaire by post. FINDINGS: 102 (79%) questionnaires were returned. Ninety-five (93%) of the 102 midwives were familiar with the concept of preconception care, and 71 (70%) of them already provided it to some extent. Of the 102 respondents, 84 (83%) seemed to be willing to provide such care in the future, and 56 (55%) felt that preconception care should be part of their professional domain. Midwives, however, lack time and knowledge to do so. KEY CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: community midwives already provide counselling, although not on a structural basis, and usually not earlier than in the first trimester of pregnancy. Midwives seem willing to play an active role in the provision of preconception care in the future. There is, however, great need for postgraduate training.
