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Purpose:
First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a w...
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Purpose:
First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers...
Citations
... Current antenatal screening for common trisomies is based on ultrasound and cell free DNA analysis (cfDNA) [1][2][3]. Several studies have summarized the test performance of cfDNA screening and reported on a detection rate for common trisomies of about 92-99% for a false-positive rate of 0.1% [4,5]. ...
Objective:
To examine the impact of the fetal fraction on the screen-positive rate in screening for microdeletion 22q11.2.
Methods:
This study is based on samples that were analyzed using the Harmony® Prenatal Test (Roche Inc, San Jose, California). The study cohort comprised of samples from women with singleton pregnancies who were at least 16 years old and at least at 11 weeks' gestation. Logistic regression analysis was used to determine significant covariates that carry an impact on the screen-positive rate.
Results:
The study population consisted of 52,019 pregnancies including 309 pregnancies with a high risk result for microdeletion 22q11.2. Thus, the overall screen-positive rate was 0.59%. In the low risk group, the fetal fraction was 10.1% and in the high risk group, it was 7.3%. Regression analysis indicated a strong correlation between the fetal fraction (FF) and the screen-positive rate. In the cases with a FF of less than 11.0%, the screen-positive rate was 0.92% while it was 0.13% in the group with a higher FF.
Conclusion:
The screen-positive rate depends on the fetal fraction. In order to keep the rate low, we recommend restricting the analysis to samples with a fetal fraction of 11% and more. This article is protected by copyright. All rights reserved.
... The well-known association between increased nuchal translucency (NT) during the first trimester screening scan and CHD [12][13][14][15] has led to improved first-trimester CHD detection rates, through an ultrasound evaluation of the fetal heart at this early stage. However, CHD diagnosis in the first trimester remains challenging, and the detection rates are very heterogeneous when considering different studies [16], ranging from 34% in the largest study performed on 45.000 pregnancies [17] to 10% or less [18,19]. ...
Purpose
Abnormal flow in the ductus venosus (DV) has been reported to be associated with adverse perinatal outcome, chromosomal abnormalities, and congenital heart defects (CHD). Aneuploid fetuses have increased risk of CHD, but there are discrepancies on the performance of this markers in euploid fetuses. The aim of this meta-analysis was to establish the predictive accuracy of DV for CHD.
Methods
MEDLINE, EMBASE, and CINAHL were searched from inception to February 2022. No language or geographical restrictions were applied. Inclusion criteria regarded observational and randomized studies concerning first-trimester DV flow as CHD marker. Random effect meta-analyses to calculate risk ratio (RR) with 95% confidence interval (CI), hierarchical summary receiver-operating characteristics (HSROC), and bivariate models to evaluate diagnostic accuracy were used. Primary outcome was the diagnostic performance of DV in detecting prenatal CHD by means of area under the curve (AUROC). Subgroup analysis for euploid, high-risk, and normal NT fetuses was performed. Quality assessment of included papers was performed using QUADAS-2.
Results
Twenty two studies, with a total of 204.829 fetuses undergoing first trimester scan with DV Doppler evaluation, fulfilled the inclusion criteria for this systematic review. Overall, abnormal DV flow at the time of first trimester screening was associated to an increased risk of CHD (RR 6.9, 95% CI 3.7–12.6; I² = 95.2%) as well in unselected (RR: 6.4, 95% CI 2.5–16.4; I² = 93.3%) and in euploid (RR: 6.45, 95% CI 3.3–12.6; I² = 95.8%) fetuses. The overall diagnostic accuracy of abnormal DV in detecting CHD was good in euploid fetuses with an AUROC of 0.81 (95% CI 0.78–0.84), but it was poor in the high-risk group with an AUROC of 0.66 (95% CI 0.62–0.70) and in the unselected population with an AUROC of 0.44 (95% CI 0.40–0.49).
Conclusions
Abnormal DV in the first trimester increases the risk of CHD with a moderate sensitivity for euploid fetuses. In combination with other markers (NT, TV regurgitation) could be helpful to identify fetuses otherwise considered to be at low risk for CHD. In addition to the improvement of the fetal heart examination in the first trimester, this strategy can increase the detection of major CHD at earlier stage of pregnancy.
... In the 2000s and, also the 2010s, combined first trimester screening (FTS) between 11 + 0 and 13 + 6 weeks' gestation was used as standard and most effective method of screening. Today, cell-free DNA analysis (cfDNA) is the gold standard in screening for trisomy 21 [1][2][3]. Increasingly, healthcare systems include cfDNA tests as a part of standard care in pregnancy. Most commonly, the test is performed after FTS. ...
Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of changes in the last 50 years. Today, cell-free DNA analysis (cfDNA) is the gold standard in screening for trisomy 21. Despite the advantages that cfDNA offers in screening for common trisomies, it must be recognized that it does not address many other chromosomal disorders and any of the structural fetal anomalies. In the first trimester, the optimal approach is to combine an ultrasound assessment of the fetus, which includes an NT measurement, with cfDNA testing. If fetal structural defects are detected or if the NT thickness is increased, an amniocentesis or a CVS with at least chromosomal microarray should be offered.
... Current screening models for trisomy 21 are predominantly based on first trimester (FT) combined screening and cell free DNA (cfDNA) screening [1][2][3][4]. The first consists of a combination of maternal and gestational age, the nuchal translucency (NT) thickness and the biochemical markers PAPP-A and free beta-hCG [5,6]. ...
Objective:
To compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening.
Methods:
Retrospective study at 3 German centers. The study included euploid and trisomy 21 pregnancies where cfDNA and first trimester (FT) screening assessment was carried out. The FT risk for trisomy 21 was computed based on combined screening and stratified into the following classes: high risk >1:10, intermediate risk 1:11 - 2,500, low risk <1:2,500. For universal cfDNA screening, the cfDNA test results were examined. For the contingent screening model, the result of the cfDNA test was taken into account in case of an intermediate FT risk. Different strategies combining maternal age, nuchal translucency, nasal bone, beta-hCG and PAPP-A were evaluated. Screen-positivity was defined as either a high risk after first trimester screening or a cfDNA test indicating a high risk result. An inconclusive cfDNA test was also considered as screen positive.
Results:
The search of the database identified 2,255 euploid and 163 affected pregnancies. All affected fetuses were identified by universal cfDNA screening. 1.3% of the euploid fetuses were classified as screen positive due to final inconclusive cfDNA test result. The detection and false positive rate of a contingent approach that is based on combined screening and cfDNA screening in the intermediate group would be 98.4% and 0.7%, respectively. With this approach, cfDNA screening would be necessary in only about 27% of all pregnancies.
Conclusion:
This study demonstrates that a contingent approach provides similar detection rates for trisomy 21 as universal cfDNA screening, by reducing in 73% the number of cfDNA tests.
... ▪ First-trimester screening for chromosomal abnormalities in twins should include maternal age, nuchal translucency (NT) and serum biochemistry (free beta-hCG and PAPP-A). ▪ If necessary, it should be combined with sonographic markers for chromosomal defects such as the nasal bone, tricuspid regurgitation and ductus venosus (NB, TR, DV) [2,[11][12][13]. ▪ In the case of a "vanishing twin", first-trimester screening for fetal trisomy should take into account maternal age, fetal NT measurement and serum beta-hCG (without PAPP-A) level. ...
The following AWMF guideline (DGGG/AGG & DEGUM responsible) deals with the diagnosis, screening and management of twins as well as the timing and mode of birth.
Twin pregnancies can be classified as dichorionic diamniotic (DC DA), monochorionic diamniotic (MC DA) and monochorionic monoamniotic (MC MA) which are always monochorionic.
Twin pregnancies can be concordant (both twins are affected) or discordant (only one twin is affected) for chromosomal defects, malformations, growth restriction and hemodynamic disorders.
Chorionicity is the prognostically most significant parameter. Monochorial twins have significantly higher risks of intrauterine morbidity and mortality compared to dichorial twins.
In particular, general aspects of twin pregnancies such as dating, determination of chorionicity and amnionicity, the labeling of twin fetuses and the perinatal switch phenomenon are discussed.
Routine monitoring of MC and DC twin pregnancies with ultrasound at 11–13+ 6 weeks of gestation for chromosomal defects, invasive prenatal diagnosis, first-trimester NT or CRL discrepancies, early diagnosis of fetal anatomical defects, and management of twins with abnormalities, including selective fetocide, is described.
Second trimester screening and management for preterm birth, intrauterine selective growth restriction (sFGR), classification of monochorial twins with sFGR, and management of the surviving twin after the death of the co-twin are described.
Complications exclusively affecting MC twins include Twin to Twin Transfusion Syndrome (TTTS) with the important topics screening, prognosis, complications of laser therapy, timing of delivery, risks for brain abnormalities and delayed neurological development, Twin Anemia-Polycythemia Sequence (TAPS) and Twin Reversed Arterial Perfusion (TRAP) Sequence. This also includes MC MA twins as well as conjoined twins.
Finally, the birth mode and time for DC and MC twin pregnancies are described.
The information is summarized in 62 recommendations for action, 4 tables and 8 illustrations with comprehensive background texts.
The guideline is an international guideline adaptation (ISUOG, NICE) as well as a systematic literature search and is up-to-date.
... It improves the detection of a large proportion of rare chromosomal abnormalities that are not detectable by cfDNA and results in the detection of about half of all major fetal structural defects. It also serves to predict maternal complications during the subsequent course of the pregnancy such as preeclampsia (PE) [1,2]. ...
... In contrast, high risk cases after first trimester screening can be treated with Aspirin [2,15]. Screening for preeclampsia at 11-13 weeks is based on maternal and pregnancies characteristics as well biochemical and biophysical parameters. ...
Objective
To examine whether the uterine artery PI is different in aneuploid and euploid pregnancies.
Methods
Retrospective case-matched study at the department of prenatal medicine at the University of Tuebingen, Germany. The study involved patients with complete data on first trimester screening for trisomies and preeclampsia except PlGF. For each case with trisomy 21 we randomly selected 50 cases with a euploid fetus where complete data on screening for aneuploidy and preeclampsia were also available. The uterine artery pulsatility index and the corresponding MoM values of euploid and the aneuploid population were compared with a Man–Whitney U test.
Results
The dataset consisted of 4591 singleton pregnancies. The karyotype was normal in 4500 cases and was abnormal in the remaining 91 pregnancies. There were 50 pregnancies with trisomy 21, 31 with trisomy 18 and 13, and 10 with triploidy. In the group with euploid fetuses, median uterine artery PI was 1.55 (0.99 MoM). In the group with trisomy 21, the median PI (1.42) and MoM (0.89) levels were both significantly lower than in the euploid (p < 0.001). However, the measurements in the trisomy 18 and 13 [1.61 (0.93 MoM)] and in the triploidy [1.99 (1.13 MoM)] groups were not significantly different from those in the euploid group (p = 0.468 and p = 0.632, respectively).
Conclusion
In conclusion, uterine artery PI levels in the first trimester are slightly lower in pregnancies with trisomy 21. This knowledge may prove to be useful in cases where a low PAPP-A level is seen on the first trimester maternal serum biochemical evaluation to differentiate whether the more likely cause for this finding is placental dysfunction or aneuploidy, specifically trisomy 21.
... In recent years, antenatal aneuploidy screening has evolved considerably [1,2]. ...
Introduction This study investigates whether the time of diagnosis of foetal trisomy 21/18/13 and the frequency of termination of pregnancy have changed in the past 10 years.
Material and Methods Retrospective study at the Tübingen University Centre for Womenʼs Health in which the cases with ante- and postnatal diagnosis of trisomy were investigated. A prerequisite was that the patients be examined in the antenatal medicine department. The time of diagnosis, the frequency of termination of pregnancy and the gestational age in the case of a termination were assessed.
Results Between 2007 and 2017, trisomy 21/18/13 was diagnosed in 498 foetuses and newborns. In 311 of the foetuses or newborns, trisomy 21 was identified; in 134, trisomy 18; and in 53, trisomy 13. The median gestational age at diagnosis in the case of foetuses with trisomy 21 was between 14.4 and 13.6 weeks of pregnancy. The rate of pregnancy terminations increased slightly from 66.7% between 2007 and 2010 to 75.5% between 2015 and 2017. The median gestational age at the time of termination remained constant at 14.9 and 15.0 weeks of pregnancy respectively. The median gestational age at diagnosis in the case of foetuses with trisomy 18/13 was between 13.6 and 14.6 weeks of pregnancy during the examination period. The percentages of affected pregnancies which were terminated in the three time periods increased slightly from 57.4 to 69.0%. The gestational age remained unchanged in this case at 15.0 and 15.1 weeks of pregnancy respectively.
Conclusion The time of intrauterine diagnosis of trisomy 21/18/13 has not changed in the past 10 years. The frequency of termination of a pregnancy increased slightly and the time of termination remained unchanged.
... screening for trisomy 21, 18, and 13 [1,2]. Test performance can be improved by the addition of other markers such as nasal bone (NB) assessment and Doppler evaluation of the tricuspid valve and ductus venosus flow (DVF) (extended FTCS [eFTCS]). ...
Objective:
To determine whether screening for trisomy 21 based on first-trimester combined screening (FTCS) with assessment of nasal bone (NB), tricuspid flow (TCF), and ductus venosus flow (DVF) results in similar false-positive rates compared to ultrasound and cell-free DNA (cfDNA) screening.
Methods:
This is a subanalysis of a prospective randomized controlled trial which was performed between October 2015 and December 2016. Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation were randomized into two groups: (1) FTCS with assessment of the NB, TCF, and DVF (extended FTCS [eFTCS]), and (2) ultrasound + cfDNA screening. The false-positive rate in screening for trisomy 21 was defined as the primary outcome parameter.
Results:
The study population consisted of 688 women in each study arm. In the eFTCS group, the median delta fetal nuchal translucency thickness (NT) was 0.0 mm, free beta-hCG and PAPP-A were 0.96 and 1.11 MoM, and NB, TCF, and DVF PIV were abnormal in 0.9, 0.6, and 7.0% cases. In the ultrasound + cfDNA group, the median delta NT was 0.0 mm. In 10 pregnancies the cfDNA analysis was uninformative and the risk of trisomy 21 was based on eFTCS. There were no false-positive cases in the ultrasound + cfDNA group, whereas the false-positive rates were between 0.9 and 2.2% with eFTCS.
Conclusion:
Screening for trisomy 21 based on ultrasound + cfDNA has a lower false-positive rate than screening based on eFTCS.
... Entre los marcadores que indican estrés fetal agudo se encuentran: movimientos fetales corporales, movimientos respiratorios, tono fetal y reactividad fetal, por el contrario, la medición del volumen del líquido amniótico es el único marcador de cronicidad 44 . ...
Introducción:
La malaria es una enfermedad infecciosa tropical de gran impacto epidemiológico a nivel mundial; las poblaciones con mayor susceptibilidad de padecerla son los niños menores de 5 años y las gestantes, en quienes, se pude no solo comprometer la salud de la madre sino también la del producto y su desarrollo, pudiendo ocurrir diferentes desenlaces adversos entre ellos la restricción del crecimiento intrauterino (RCIU), incrementando sustancialmente las tasas de mortalidad materna y perinatal. Es importante establecer un diagnóstico preciso y oportuno de la RCIU en fetos de gestantes que padecen de malaria, con el fin de llevar a cabo un enfoque de seguimiento y de manejo que puedan disminuir las complicaciones asociadas a la enfermedad.
Métodos:
Se realizó una búsqueda bibliográfica en la base de datos de Cochrane y PubMed, libros de la especialidad y consensos de sociedades científicas, relativos a los términos de: malaria during pregnancy, intrauterine growth restriction y malaria and fetal growth restriction. Se seleccionaron finalmente 42 artículos para análisis completo y crítico, que justificara la elaboración de esta revisión.
Conclusión:
esta revisión aporta elementos para establecer un alto grado de sospecha diagnóstica de malaria durante el embarazo en zonas endémicas para la malaria; además revela la necesidad de implementar protocolos de manejo especifico ante la RCIU según sea la etiología; ya que estas medidas impactaran positivamente en los resultados adversos de la enfermedad, sin olvidar que lo primordial es proteger plenamente a las mujeres contra la malaria desde el comienzo del embarazo hasta el parto.
... Dies hat zum einen ökonomische Hintergründe. Zum anderen ist zu bedenken, dass bei der Anwendung in einem Niedrigrisikokollektiv der positiv prädiktive Wert des Testes mit der Prävalenz der Erkrankung sinkt [12,13]. Die cfDNA-Analyse fokussiert primär auf die Trisomie 21 und nicht auf die ggf. ...
