scholarly journals Jugular lymphatic sacs in the first trimester of pregnancy: the prevalence and the potential value in screening for chromosomal abnormalities

2008 ◽  
Vol 36 (6) ◽  
Author(s):  
Peter N. van Heesch ◽  
Pieter C. Struijk ◽  
Helen Brandenburg ◽  
Eric A. Steegers ◽  
Hajo I. Wildschut
Author(s):  
Frishman M ◽  
Radin M ◽  
Cecchi I ◽  
Sciascia S ◽  
Schreiber K

Pregnancy loss is a common and devastating pregnancy complication. Recurrent early miscarriage (REM) isdefined as two or more consecutive pregnancy losses during the first trimester of pregnancy. It is a distinct entity and in approximately 50% of these patients, the underlying cause is never established. REM can be idiopathic, i.e. of unknown cause, be related to infections, anatomical or chromosomal abnormalities and can also be related to the presence of autoimmune connective tissue diseases or antiphospholipid antibodies (aPL). Hydroxychloroquine (HCQ) is an antimalarial immunomodulator and is currently being investigated for its role in the prevention of idiopathic REM and REM related to antiphospholipid antibodies (aPL). In this article we review the evidence that exists to date regarding the use of HCQ in the setting of unexplained REM and REM in relation to connective tissue diseases and aPL and antiphospholipid syndrome (APS).


Author(s):  
Shahnoza Kamalidinova

To study defects and chromosomal abnormalities of the fetus, we retrospectively analyzed results of comprehensive dynamic survey of 26,404 pregnant women aged 18-50 years old at 6 to 40 weeks of pregnancy. Of them, 25,956 (98.3%) women had physiological course of pregnancy, 448 (1.7%) women had abnormal pregnancy. For the diagnosis of fetal defects, we carried out ultrasound, biochemical, invasive and cytogenetic studies. The results of study showed that the majority of fetal defects and pathological course of pregnancy was noted in women at the age of 21-25 years old, since at this age period women have the highest number of pregnancies. At the older age, we noted a gradual decrease in the number of pregnant women, as well as the number of abnormalities of the fetus. Based on the analysis of the results obtained, we have developed an algorithm for early fetal ultrasound examination. In order to exclude non-developing pregnancy and intrauterine fetal death, as well as for early diagnosis of fetal defects, we recommend screening women in the first trimester of pregnancy.


Author(s):  
O.L. Galkina, N.A. Savel'eva, I.V. Poddubnaya

During 5 years in the first trimester of pregnancy 82 cases of congenital anomalies of fetal development were diagnosed, in 14 cases (17%) an omphalocele was found. An analysis of the results of prenatal examination of fetuses with omphalocele in an isolated and combined version has been carried out. In 78% of cases, omphalocele was combined with other fetal anomalies, most often with congenital heart defects (82%). The frequency of chromosomal abnormalities in fetuses with omphalocele was 69%. Perinatal outcome in the case of early prenatal omphalocele diagnosis is unfavorable in 93% of cases. Early prenatal diagnosis of omphalocele is possible in 100% of cases. Diagnosed in the first trimester of pregnancy, omphalocele is an indication for an extended anatomical evaluation of the fetus with the aim of forming a clinical hypothesis and conducting timely optimal prenatal counseling.


Vestnik ◽  
2021 ◽  
pp. 1-6
Author(s):  
С.Ш. Исенова ◽  
Г.Ж. Бодыков ◽  
Н.В. Ким ◽  
А.Б. Асемов

В данном обзоре на основании литературных данных изучен ряд биомаркеров и определена их связь с развитием преэклампсии у женщин с прегестационным сахарным диабетом в I триместре беременности. В связи с тем, что в основе этих состояний лежат схожие механизмы, ранняя диагностика преэклампсии у данной категории пациенток значительно затруднена. Выполнена оценка материнских факторов риска, биофизических и биохимических маркеров, показана их роль в предикции преэклампсии. Установлено, что при наличии сахарного диабета исследование некоторых гормонов, маркеров воспалительной реакции, метаболизма липидов может иметь потенциальную ценность для прогнозирования развития преэклампсии. Таким образом, для активного внедрения биомаркеров в практическую деятельность требуются дальнейшее, более детальное изучение этого направления и оптимизация дизайна исследований. In this review, based on the literature data, a number of biomarkers have been studied and their relationship with the development of preeclampsia in women with pregestational diabetes mellitus in the first trimester of pregnancy has been determined. Due to the fact that these conditions are based on similar mechanisms, early diagnosis of preeclampsia in this category of patients is significantly difficult. The assessment of maternal risk factors, biophysical and biochemical markers was carried out, their role in the prediction of preeclampsia was shown. It has been established that in the presence of diabetes mellitus, the study of certain hormones, markers of the inflammatory response, lipid metabolism may be of potential value for predicting the development of preeclampsia. Thus, for the active introduction of biomarkers into practice, further, more detailed study of this area and optimization of research design are required.


2016 ◽  
Vol 59 (5) ◽  
pp. 357 ◽  
Author(s):  
Soo Yeon Park ◽  
In Ae Jang ◽  
Min Ah Lee ◽  
Young Ju Kim ◽  
Sun Hee Chun ◽  
...  

2017 ◽  
Vol 06 (03) ◽  
pp. 179-183
Author(s):  
Shahin Kazi ◽  
Harsha A. Keche ◽  

Abstract Background : Approximately 15% of all clinically recognized pregnancies end in spontaneous abortions. Chromosomal disorders are responsible for 50% of the spontaneous abortions. Most commonly it occurs in the first trimester of pregnancy. Aim : To study the cytogenetic analysis of chorion villous tissue in 50 cases of abortion in age groups of 19-40 years. Material and Methods : Cytogenetic analysis was performed by implementing standard protocol of planting, harvesting, banding and screening. The karyotypes were prepared and observed under microscope. Statistical analysis was done by calculating the percentage of abnormal abortions in relation to maternal age. Results : It was observed that maximum abortion took place between 25-34 years of maternal age. The rate of abortion with trisomy was maximum followed by polyploidy and monosomy. It was seen that rate of abortion with monosomy decreases with increase in maternal age. Contrary to this trisomy increased with increase in maternal age. Conclusion : Cytogenetic study revealed that the rate of trisomie abortions increased with the increase in maternal age.


Author(s):  
Zoran Belics ◽  
Zoltán Papp

ABSTRACT 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.


1962 ◽  
Vol 41 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Pentti A. Järvinen ◽  
Sykkö Pesonen ◽  
Pirkko Väänänen

ABSTRACT The fractional determination of 17-ketosteroids in the daily urine was performed in nine cases of hyperemesis gravidarum and in four control cases, in the first trimester of pregnancy both before and after corticotrophin administration. The excretion of total 17-KS is similar in the two groups. Only in the hyperemesis group does the excretion of total 17-KS increase significantly after corticotrophin administration. The fractional determination reveals no difference between the two groups of patients with regard to the values of the fractions U (unidentified 17-KS), A (androsterone) and Rest (11-oxygenated 17-KS). The excretion of dehydroepiandrosterone is significantly higher in the hyperemesis group than in the control group. The excretion of androstanolone seems to be lower in the hyperemesis group than in the control group, but the difference is not statistically significant. The differences in the correlation between dehydroepiandrosterone and androstanolone in the two groups is significant. The high excretion of dehydroepiandrosterone and low excretion of androstanolone in cases of hyperemesis gravidarum is a sign of adrenal dysfunction.


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