Search

Prenatal screening of fetal aneuploidy is a continuously and rapidly evolving area of research; there have been tremendous advancements over the past decades in prenatal screening for aneuploidy, especially during the first trimester. As there is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy, recently we have changed our practice; the prenatal screening of fetal chromosomal aberrations has been moved and pointed to the first trimester. Besides the nuchal translucency, which is one of the most known ultrasonographic markers, there are other markers, which can be examined during the first trimester of pregnancy. To maximize the quality of sonography, increase the screening sensitivity, and decrease the range of false-positive rate, all of the first-trimester ultrasound markers have well-established criteria for the measurement. With the use of high standards of scanning, the early recognition of sonographic markers of chromosomal aberrations can be helpful in forward prenatal diagnosis. On the contrary, the early diagnosis makes the termination of the pregnancy possible with fewer complications, and there is time for planning of further follow-up and interventions. How to cite this article Belics Z, Papp Z. Ultrasound Markers of Aneuploidy in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2017;11(1):20-28.

Objectives The aim of this study was to present our results of the sonographic measurement of the fetal iliac angle during the first and second trimesters of pregnancy. Methods A total of 2168 fetal iliac angle measurements were performed in a transverse section of the fetal pelvis. The iliac angle measurements were compared in fetuses with trisomy 21 (n = 52) and fetuses with normal karyotype (n = 1980). The sensitivity, specificity, positive predictive value, negative predictive value and false positive rate in trisomy 21 fetuses were compared for multiple cut-off value. Statistical significance for measurements was estimated for trisomy 21. Results A total of 2064 fetuses had adequate images for satisfactory measurement of the iliac wing angle and 1831 patients asked for a genetic invasive procedure. Of the fetuses with chromosomal aberrations, only the fetuses with trisomy 21 were included in the investigation. The risk of trisomy 21 in our population was 1 of 39. In the euploid fetuses, the mean iliac wing angle was 63.72°. The mean iliac wing angle in the fetuses with trisomy 21 was 90.32°, significantly higher than those seen in fetuses with normal karyotype. Conclusion The proven larger iliac wing angle in neonates with Down syndrome can be demonstrated sonographically during the pregnancy, especially in the first and second trimesters. This marker may be useful in prenatal screening or exclusion of trisomy 21. Copyright © 2011 John Wiley & Sons, Ltd.

Rationale and Objectives: MR-guided Focused Ultrasound Surgery (MRgFUS) is an evolving thermoablative technique for treatment of benign and malignant soft tissue tumors. The feasibility and effectiveness of this non-invasive method has been tested by several investigators by treating uterine fibroid. The aim of the present study was to evaluate early and mid-term efficacy of MRgFUS treatment using MR imaging follow-ups. Materials and Methods: 38 patients with uterine fibroids were enrolled and treated by MRgFUS in a single center. MRI follow-up exams were performed 3 and 6 months after the procedure. Total fibroid volumes (FV) and non-perfused volumes (NPV) were compared and evaluated over time. Results: There was a significant reduction of FV at 3- and 6-month follow-ups (10±19%, p=0.022 and 19±29%, pConclusion: This study suggests that MRgFUS can effectively coagulate uterine fibroid tissue. Smaller UFs can be most effectively treated within reasonable time with the used equipment.

Ectopic pregnancy is a high-risk condition that occurs in 2% of reported pregnancies. This percentage is fivefold higher than that registered in the 1970s. Since 1970 there has been a two-fold increase in the ratio of ectopic pregnancies to all reported pregnancies in Hungary and in 2012 7.4 ectopic pregnancies per thousand registered pregnancies were reported. Recently, the majority (80%) of cases can be diagnosed in early stage, and the related mortality objectively decreased in the past few decades to 3.8/10,000 ectopic pregnancies. If a woman with positive pregnancy test has abdominal pain and/or vaginal bleeding the physician should perform a work-up to safely exclude the possibility of ectopic pregnancy. The basis of diagnosis is ultrasonography, especially vaginal ultrasound examination and measurement of the β-subunit of human chorionic gonadotropin. The ultrasound diagnosis is based on the visualization of an ectopic mass rather than the inability to visualize an intrauterine pregnancy. In some questionable cases the diagnostic uterine curettage or laparoscopy may be useful. The actuality of this topic is justified by practical difficulties in obtaining correct diagnosis, especially in the early gestational time.Méhen kívüli terhességnek nevezzük azt az állapotot, amikor a megtermékenyített petesejt nem a méh üregében ágyazódik be és indul fejlődésnek. A kórkép az összes terhesség körülbelül 2%-ában fordul elő, leggyakrabban a petevezetékben. Az 1970-es évektől gyakorisága napjainkig ötszörösére emelkedett, hazánkban az összes terhességre vonatkoztatva csaknem duplájára nőtt, 2012-ben 1000 terhességre számítva 7,4 méhen kívüli terhesség jutott. Jelenleg az elváltozás közel 80%-ban intakt állapotban felismerhető, a kórképből eredő mortalitás az 1970-es évektől 90%-kal csökkent, jelenleg 3,8/10 000 terhesség. Általános szabály, hogy pozitív terhességi teszt, alhasi fájdalom és/vagy hüvelyi vérzés esetén gondolni kell méhen kívüli terhesség lehetőségére, és olyan kivizsgálási tervet kell kiépíteni, hogy azt biztonsággal ki lehessen zárni. Mortalitás és morbiditás szempontjából nagy fontossággal bír a korai felismerés és kezelés, amelynek alapját az ultrahangvizsgálat, legfőképpen a hüvelyi ultrahangvizsgálat és a szérum β-humán choriogonadotropin szintjének meghatározása adja. Az ultrahang-diagnosztika alapját inkább a méhen kívüli terhesség kimutatása, mintsem a méhen belüli terhesség igazolásának hiánya adja. Kérdéses esetekben segítséget jelenthet a diagnosztikus abrasio vagy akár laparoszkópia elvégzése is. A téma aktualitását az adja, hogy a rendelkezésre álló vizsgálati módszerek ellenére az akár életveszélyes állapotot jelentő kórkép felismerése esetenként nem egyszerű és a diagnózis felállítása nagy szakmai kihívást jelenthet, főleg a terhesség korai szakaszában. Orv. Hetil., 2014, 155(29), 1158–1166.

Objectives: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). Methods: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. Results: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). Conclusions: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.

Objective: The aim of our study was to determine the effect of abnormal implantation on uterine circulation and to evaluate whether the assessment of uterinal blood flow can provide additional information for the diagnosis of tubal pregnancies. Methods: Forty-nine patients with ectopic pregnancy were examined by transvaginal color Doppler immediately before surgery. Resistance and pulsatility indices of blood flow in the uterine and tubal arteries were measured. Results: The blood flow parameters of the uterine and tubal arteries did not change with gestational age. There was a significant increase in blood flow on the side with the tubal gestation. Differences between sides were higher in the tubal arteries than in the main uterine arteries and showed no dependence on gestational age. Conclusion: The abnormal implantation and tubal trophoblast invasion in ectopic pregnancy (EP) can cause more marked blood flow changes in the adjacent supplying vessels than in the main uterine arteries.

Objective: To determine whether iliac wing angle measurement in second trimester fetuses is a useful sonographic marker for the detection of trisomy 21, 18 and 13. Methods: During the period between September 1998 and September 2001, 406 fetal iliac angle measurements were performed in women in the second trimester of their pregnancies. The iliac angle measurements in fetuses with trisomy 21 (n = 25), trisomy 18 (n = 10) and trisomy 13 (n = 5) were compared with iliac angle measurement in fetuses with normal karyotypes (n = 333). Results: The mean iliac wing angle in the fetuses with trisomy 21 was 92.67 and 79.35° and 74° in fetuses with trisomy 18 and 13 (the mean iliac wing angle in the healthy fetuses was 70.09°). Conclusion: The proven larger iliac wing angle in neonates with Down’s syndrome can be demonstrated sonographically during the pregnancy, especially during the second trimester, and may be useful in prenatal screening of trisomy 21. The sonographic measurement of the fetal iliac angle cannot be used as a marker for trisomy 18 and 13. We have shown that fetuses with trisomy 18 and 13, on average, have iliac angles only a few degrees larger than healthy fetuses.