The first trimester combined test for aneuploidies – a single center experience

Veduță, Alina; Vayna, Ana Maria; Duţă, Simona; Panaitescu, Anca Maria; Popescu, Florin; Bari, M. B.; Peltecu, Gheorghe; Nedelea, Florina

doi:10.1080/14767058.2017.1336220

Cited by 19 publications

(15 citation statements)

References 27 publications

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“…Our median maternal age was 31 years, which was comparable to other values registered in Spain (32.4 years in 2016) [23], Romania (29.6 years in 2017) [18,24] or in Poland (34 years in 2017) [19], for first-trimester screening population.…”

Section: Discussionsupporting

confidence: 67%

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First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

et al. 2018

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Objectives: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. Material and methods:We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A).Results: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fβ-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. Conclusion:The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers.

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Section: Discussionsupporting

confidence: 67%

“…Two other recent studies also reported similar detection rates [18,19] of 91.6% and 93.75%, respectively.…”

Section: Discussionsupporting

confidence: 57%

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

et al. 2018

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“…The median CRL was 65.45 (range, 45.1–84) mm. In 97% of the patients, the racial origin was white; conception was spontaneous in 95% of the patients …”

Section: Resultsmentioning

confidence: 99%

Diagnosis of Fetal Structural Anomalies at 11 to 14 Weeks

Vayna

Veduță

Duţă

et al. 2018

J of Ultrasound Medicine

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“…Spina bifida is sometimes associated with genetic anomalies such as trisomy 18. Both major structural defects and common aneuploidies can be routinely diagnosed in the first trimester of pregnancy [ 38 , 39 ].…”

Section: Discussionmentioning

confidence: 99%

Myelomeningocele Surgery over the 10 Years Following the MOMS Trial: A Systematic Review of Outcomes in Prenatal versus Postnatal Surgical Repair

et al. 2021

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Background and Objectives: Myelomeningocele is the most severe form of spina bifida, a congenital neural tube defect arising from an incomplete neural tube closure during early development with damage worsening with advancing gestational age. The Management of Myelomeningocele Study (MOMS) Trial proved that surgery performed before 26 weeks of gestation significantly improved the prognosis, significantly changing treatment paradigms. This article aims to provide a review of the changes and updates in spina bifida repair over the 10-year period following the MOMS Trial. Material and methods: We performed a systematic review in the PubMed and Cochrane databases as well as a hand-search of high-impact journals using the reference list of all identified articles, searching for randomized controlled trials and observational studies. Results: We identified 27 articles published between 2011 and 2021 that fulfilled the inclusion criteria and review them in the present study. Conclusions: With growing experience and with the improvement of prenatal open and fetoscopic techniques, the outcome of SB-associated conditions could be improved and the risks to both the mother and the fetus reduced. A continuous follow-up of the treated infants and further randomized trials are essential to study the complications and advantages or disadvantages of any given treatment strategy.

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The first trimester combined test for aneuploidies – a single center experience

Abstract: Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved.

Cited by 19 publications

References 27 publications

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

Diagnosis of Fetal Structural Anomalies at 11 to 14 Weeks

Myelomeningocele Surgery over the 10 Years Following the MOMS Trial: A Systematic Review of Outcomes in Prenatal versus Postnatal Surgical Repair

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