Detection Of Fetal Malformations Research Articles

The role of genetic counseling in the early detection of fetal malformations

The role of genetic counseling in the early detection of fetal malformations

First Trimester Ultrasound in Prenatal Diagnosis-Part of the Turning Pyramid of Prenatal Care.

First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11–13 weeks’ gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy.

Psychological distress after recent detection of fetal malformation: short-term effect on second-trimester uteroplacental and fetoplacental circulation

We examined the short-term effect of severe maternal psychological distress on the placental circulation in second trimester in a prospective observational study. In 86 pregnant women with a newly detected fetal malformation, and 98 women with normal ultrasound findings, distress was assessed using the Impact of Event Scale and the General Health Questionnaire-28. Uterine and umbilical artery pulsatility indices, notching and heart rates were measured by Doppler ultrasound. Psychological distress was high in the anomaly group, but circulatory outcome measures did not differ between groups. Multiple regression analyses did not show an increase in circulatory resistance measures even at high distress levels.

3D/4D Volumetry in the Second and Third Trimester of Pregnancy

ABSTRACT Purpose of the review The technological improvements have greatly progressed on three-dimensional ultrasonography. This review summarizes these technical changes and the latest advances of their use in prenatal diagnosis. Material and methods Review of the literature. Results The new technical aspects of the volumetry, improvement of different render modes, the postprocessing modalities, and innovations on volume calculations are extensively described, as well as detailed, organ based diagnosis of different malformations in the second and third trimester are summarized. Conclusion Though the traditional 2D ultrasound with high resolution provides a great diagnostic tool in detection of fetal malformations, there is no doubt that the 3D/4D technique offers a new power in prenatal diagnosis. Three-dimensional ultrasound can assist in the diagnosis of different, rare malformations because it offers a potential benefit of understanding spatial relationships of normal and abnormal fetal anatomy.

Therapeutic Indications of Fetoscopy: A 5-Year Institutional Experience

Prenatal ultrasound study allows the detection of fetal malformations. Intrauterine interventions are now contemplated to correct, or interfere with, the natural history of these anomalies. Minimally invasive techniques, such as the so-called "Fetendo" (fetal endoscopy), are now therapeutic possibilities. From 2002 to 2007, 205 fetoscopies were performed in our hospital's fetal surgery program. Fetoscopic interventions were carried out under epidural anesthesia, accessing the uterine cavity with a fetoscope containing a 1.2-mm telescope. Following ultrasound-guided needle puncture of the amniotic cavity, the fetoscope was inserted through a 3-mm sheath by the Seldinger technique. Visibility was maintained with an amnioinfusion system. This procedure offers access to the placental surface, umbilical cord, and fetus. Fetoscopy was used to perform laser coagulation of communicant placental vessels in 148 biamniotic monochorionic gestations with twin-to-twin transfusion syndrome (TTTS) and to occlude the umbilical cord in 32 cases of discordant monochorionic twins with a severe or lethal anomaly in one of the fetuses, and 5 cases of reversed arterial perfusion (TRAP) sequence. In addition, fetoscopy was performed in 18 cases to treat severe congenital diaphragmatic hernia by tracheal occlusion with an endotracheal balloon. Finally, in 2 cases, fetoscopic release of amniotic bands was performed to rescue extremities and the umbilical cord. The most common complications (10%) were preterm rupture of membranes, which resulted in preterm delivery. Other indications for fetoscopy, which we are currently using in experimental animal models, include low urinary tract obstruction, sacrococcygeal teratoma, and repair of myelomeningocele defects. Fetoscopy can lower the incidence of preterm labor that occurs in response to the aggression of open surgery. At present, fetoscopy is effective for treating several fetal anomalies. Preterm rupture of membranes remains the weak link of fetoscopy. Refinement of the technique and technologic advances will help this problem and allow the use of fetoscopy for other pathologies in the future.

P03.30: Sonotraining on the personal computer: innovative multimedia‐software for further training in prenatal ultrasound diagnostics

The transfer of knowledge and further training in ultrasound diagnostics in bookform meets quickly with conceptual limitations. Until now only sit-ins in specialized departments had the possibility to advance one's learning capabilities. But the problem of time and personnel presented limitations. The evaluation of the contents of study course and training in continuing education in the diagnostics of fetal birth defects per ultrasound led to the development of a user-friendly software program including both moving and still photos. Spoken and written texts, thereby, also the use of a ‘learn-control-module’ to test the goal of advanced learning. The subject of using software for further training in ultrasound diagnostics is not new. The advanced ‘Sonotraining on the PC’ with ‘virtual hands-on’ experience accelerates knowledge in more than one focal point. Therefore it represents an ideal foundation to further qualify the gynaecologist/obstetrician in the detection of fetal malformation by ultrasound. The basic concept is a ‘virtual sit-down demonstration’ in prenatal centers. The user is—so to speak—looking over the shoulder of a highly qualified examiner. This is realized by the use of real-time video with synchronized audio-commentary and interlocking of multimedia presentation and proof-testing. The software contains 82 ultrasound examinations of fetal malformations and more than 200 chosen interactive still-photos with mouse-over explanation function. It works with any standard, up-to-date PC for intense, time and cost-effective further training of the obstetrician and opens the possibility to be a central part of the expert pool.

Sinn und Grenzen dergeburtshilflichen Sonographie

Die geburtshilfliche Sonographie wird in Deutschland, Österreich und der Schweiz weitgehend als Screening (= Massenuntersuchung) für alle Schwangerschaften durchgeführt. Obwohl die ersten Ziele dieser Screenings bei ihrer Einführung in Deutschland 1981 vor allem die genaue Überprüfung und eventuell Korrektur des Gestationsalters, Erkennung von Mehrlingsschwangerschaften und von Wachstumsretardierung waren, hatten sich die Ziele bis zur Einführung eines 3-Punkte-Screenings 1995 in Richtung Fehlbildungsdiagnostik verschoben. Um eine befriedigende Qualität zu erzeugen, wurde im Sinne einer Arbeitsteilung das Mehrstufenkonzept eingeführt. So können heute sowohl für die 3 Screeninguntersuchungen (10/20/30 Wochen) als auch für die 3 Stufen und die Ultraschallgeräte Inhalte und Qualitäten definiert werden, die helfen können, die teilweise noch unzureichenden Ergebnisse der geburtshilflichen Sonographie zu verbessern. Gleichzeitig soll vor übertriebenen Erwartungen gewarnt werden.

Die Entwicklung der geburtshilflichen Sonographie in der Schweiz

Ultraschall hat in den letzten 40 Jahren das Fach Geburtshilfe erobert und ist heute ein integraler Bestandteil der Schwangerenvorsorge geworden. Der breite Einsatz als Screeningmethode hat aber auch Kritiker geweckt, die sehr schnell bei Gesundheitspolitikern angesichts knapper Ressourcen im Gesundheitswesen Gehör fanden. In der Schweiz waren 1996 vorübergehend Routineultraschalluntersuchungen nicht (mehr) Kassenpflicht. Unter Druck der Öffentlichkeit hat die Gesundheitsbehörde diesen Entscheid rückgängig gemacht, die Kassenpflicht jedoch an Ärzte mit Ausbildung und Erfahrung, an eine systematische Information der Schwangeren sowie an den Nachweis eines Nutzens geknüpft. Diese Vorschrift hat sich positiv auf die Qualität ausgewirkt. 7 Jahre danach bestehen ein gut funktionierendes Kurswesen, Richtlinien für die Praxis, sowie stichprobenartig Resultate, dass die Qualität in der Schweiz internationalen Vergleichen durchaus standhalten kann. Die Kosten-Nutzen-Analyse zeigt, dass ein Nettonutzen hauptsächlich durch das Erkennen von Fehlbildungen mit anschliessendem Schwangerschaftsabbruch zustande kommt. Da Schwangerschaftsabbrüche ethisch umstritten sind, dürfte die Diskussion um die Kassenpflicht von Ultraschall so schnell nicht zur Ruhe kommen. Eine umfassende vorgängige Information der Schwangeren ist dabei essentiell.

Prenatal sonographic diagnosis of nasal malformations

The aim of this study was to describe the prenatal detection of fetal nasal abnormalities by ultrasound. Transvaginal and transabdominal sonography was used for the detection of fetal malformations in 25, 114 cases. The fetal nose was visualized in all the fetuses in an oblique section and in the lateral profile of the face. Fifteen cases of fetal nasal malformations were detected between the 12th and 27th week of gestation. All but two, who had dilatation and curettage, were confirmed by postabortal or postnatal examination. Dyskaryosis (trisomies 18 and 21, triploidy, and tetrasomy 12 p) was diagnosed in six cases (40 per cent). The nasal malformations were isolated in four cases, one of them being associated with tetrasomy 12 p. The fetal nose should also be a target in the prenatal sonographic screening for malformations in the early mid-trimester. The incidence of fetal nasal anomalies is 1:1674 fetuses (15:25, 114). The fetal nose should be visualized by ultrasound in both an oblique plane and a lateral profile to identify its abnormalities.

OGO 6207 Ultrasound scan in the detection of fetal malformations at 10 to 14 weeks' gestation

OGO 6207 Ultrasound scan in the detection of fetal malformations at 10 to 14 weeks' gestation

Performing a Second Ultrasound Exam Markedly Improves Prenatal Detection of Fetal Malformation

Performing a Second Ultrasound Exam Markedly Improves Prenatal Detection of Fetal Malformation