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

Nemescu, Dragoş; Bratie, A.; Mihaila, Alexandra; Navolan, Dan; Tănase, Adina

doi:10.5603/gp.a2018.0035

Cited by 5 publications

(7 citation statements)

References 23 publications

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“…If this test was enhanced by combining it with the other USG parameters (nasal bone, ductus venosus, and tricuspid regurgitation), the detection rate was observed to improve and reached 91%-96%. 15 In the present study, the highest fetal chromosomal anomaly rate was obtained in pregnant women who underwent the CVS (33.33%) procedure; this finding was also consistent with the literature. 4 It is, therefore, proposed that the first-trimester screening tests are efficient in diagnosing fetal aneuploidy and that the major structural anomalies that could be diagnosed in the first trimester are more related to the chromosomal anomalies.…”

Section: Discussionsupporting

confidence: 92%

“…Therefore, it would be more convenient to use detailed USG along with the combined test to detect fetal aneuploidy in the first trimester, as stated in the literature as well. 15 It has been reported previously in the literature that the most common indications for amniocentesis were high risk in triple screening test, AMA, and positive USG findings, and that the most common fetal chromosomal anomaly observed was trisomy 21. 12,13 The present study revealed screening test positivity and major structural anomaly in the USG as the most common invasive procedure indications, while the most common fetal chromosomal anomaly revealed in the present study was trisomy 21.…”

Section: Discussionmentioning

confidence: 92%

See 1 more Smart Citation

Evaluation of Invasive Prenatal Test Indications and Results at a Tertiary Center in the Thrace Region of Turkey

İnan¹,

Sayın²,

Gürkan³

et al. 2019

JCOG

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8 renatal diagnosis is crucial for providing the parents with an option to terminate the pregnancy, planning treatment methods post birth, and counseling the subsequent pregnancy. The screening and diagnosis of fetal aneuploidy in pregnancies may be performed using non-invasive as well as invasive procedures. The non-invasive screening tests include the first trimester combined tests (maternal age, serum free beta-human chorionic gonadotropin, pregnancy-associated plasma protein-A, and fetal nuchal translucency), the second trimester screening tests (alpha-fetoprotein, human chorionic gonadotropin, and estriol and/or inhibin A), and the analysis of cell-free DNA in the maternal blood, a method which has become widespread nowadays. 1,2 The invasive procedures for prenatal diagnosis include amniocentesis, chorionic villus sampling (CVS), and cordocentesis. CVS and amniocentesis are performed at 11 th -14 th and 15 th -22 nd weeks of gestation, respectively. Cor- Evaluation of Invasive Prenatal Test Indicationsand Results at a Tertiary Center in the Thrace Region of Turkey A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : The present study aimed at evaluating and improving the knowledge regarding prenatal test indications by assessing the results of the invasive prenatal tests for the detection of fetal chromosomal anomalies conducted in our tertiary center. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : A retrospective study was conducted to collect the results of prenatal invasive procedures performed in our tertiary center between January 2002-September 2017. The types and prevalence of fetal chromosomal anomalies were identified and the efficiency of the invasive procedure indications in predicting these fetal chromosomal anomalies was investigated. R Re es su ul lt ts s: : The results of 2136 invasive procedures (2014 amniocentesis, 80 cordocentesis, and 42 chorion villus samplings) revealed 101 (4.72%) fetal chromosomal anomalies and 128 (5.99%) chromosomal polymorphisms. The most common chromosomal anomaly observed was trisomy 21 (n=52), followed by trisomy 18 (n=12). In terms of diagnosis of the fetal chromosomal anomalies, the following observations were made: the indication "major structural anomaly in the ultrasound (USG)" exhibited 31.68% sensitivity and 82.03% specificity with an odds ratio (OR) of 2.11 (95% CI: 1.37-3.27); the indication "screening test positivity" exhibited 44.55% sensitivity and 48.25% specificity [OR=0.75 (95% CI: 0.50-1.13)]; and the co-existence of "major structural anomaly in the USG" and "screening test positivity" exhibited 8.91% sensitivity and 98.24% specificity [OR=5.49 (95% CI: 2.54-11.84)]. C Co on nc cl lu us si io on n: : Fetal chromosomal anomaly rate was observed to be 4.72%. The co-existence of a sonographic major fetal structural anomaly and serum screening test positivity was observed to maximize the risk of numerical as well as a structural chromosomal anomaly. The data from the present study which reflected screening performances of detailed USG...

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 92%

Evaluation of Invasive Prenatal Test Indications and Results at a Tertiary Center in the Thrace Region of Turkey

İnan¹,

Sayın²,

Gürkan³

et al. 2019

JCOG

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show abstract

“…A few reports of DS screening performance have indicated good national results, although from a single medical unit. For example, one single-center audit in Romania has examined performance using different software programs, and reported similar results compared with international specialized centers [24]. Additionally, an analysis of the systematic application of FMF software in Filantropia Hospital between 2010-2019 revealed a prenatal aneuploidy detection rate of 87.5%, with a 3% false-positive rate, when using nuchal translucency and first-trimester biochemical markers.…”

Section: Discussionmentioning

confidence: 88%

Missed Down Syndrome Cases after First Trimester False-Negative Screening—Lessons to be Learned

Simionescu

Stănescu

2020

Medicina

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Background and Objectives: Here, we performed a descriptive analysis of Down syndrome (DS) cases that were misdiagnosed and/or false-negative diagnosed after first trimester traditional screening via risk evaluation using ultrasound, biochemical markers, and different software programs. Our objective was to demonstrate the clear need to improve the application of prenatal DS screening programs using standardized ultrasound measurements, accurate pregnancy dating, analytical immunoassay performance, and properly selected medians. Materials and Methods: We performed a database search for the period 2010–2015 to analyze DS cases that were false-negative diagnosed after the first trimester of pregnancy, before the introduction of cell free fetal DNA-based tests by Romanian laboratories in 2015. First-trimester screening was performed using two software programs for prenatal DS risk calculation: Astraia and Prisca. The rationale for using both software programs was to assess the full risk using the maternal age combined test (based on nuchal translucency thickness, nasal bone, ductus venosus flow, tricuspid flow, free beta-human chorionic gonadotropin level, and serum pregnancy-associated plasma protein-A) and, in some cases, the triple test. Results: We identified seven DS cases that exhibited low risk for trisomy 21, and 6540 cases with a low risk for trisomy 21 and euploid fetus in the first trimester. Using Astraia software, 14 cases were diagnosed, and three cases were missed after risk calculation. Using Prisca software, four cases were missed. Additionally, one neonate had a missed prenatal diagnosis of atrio-ventricular canal defect. Conclusion: In Romania, the evaluation of DS risk depends on patient choice (without knowing the accuracy of the utilized tests) and on the operators’ skills. Both Astraia and Prisca software were developed by experts, who can prove their performance in DS screening. However, even in an ideal situation, false-negative results are possible. The application of first and second-trimester combined screening based on biochemical markers could be improved by the implementation of standardized protocols, professional guidelines for test application, and audit control.

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“…A second fetal assessment, was performed routinely between 19-24 weeks of gestation, measuring the CM width and transverse cerebellar diameter (TCD) as previously described (5)(6)(7).…”

Section: Methodsmentioning

confidence: 99%

Posterior fossa assessment in the axial view of the head at 11-14 weeks of gestation in normal and aneuploid fetuses

et al. 2020

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Posterior fossa ultrasound appearance may offer clues for brain anomalies as early as the first trimester. The purpose of the study was to find an easy, reproducible method to examine the posterior fossa. From January 2017 to March 2018, 132 consecutive pregnancies presenting for first-trimester screening, were selected at 11-14 weeks' gestation. An oblique axial view of the fetal head was routinely achieved with visualization of the posterior fossa, wherein the cisterna magna (CM) and the fourth ventricle (V4) anteroposterior diameter was measured. Moreover, 81 patients had a follow-up scan at 19-24 weeks, and the CM and transverse cerebellar diameter (TCD) were measured. Normal ranges were established at 11-14 weeks for CM and V4 according to crown-rump length (CRL). The 50th centile for CM ranges from 1.2 mm to 2.3 mm at a CRL between 45 and 85 mm. The V4 50th centile ranges from 1.8 to 2.4 mm. A positive correlation was found between the first-trimester and second-trimester CM diameter and between the first-trimester V4 and second-trimester TCD. There is an inverse correlation between the first-trimester CM and second-trimester TCD. The measurements of different components of the posterior fossa in the first trimester cannot predict the size of CM and TCD in the second trimester. The presence of the three hypoechoic structures (cerebral peduncles, V4, and CM) separated by two hyperechoic lines is easy to see and measure.

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

Cited by 5 publications

References 23 publications

Evaluation of Invasive Prenatal Test Indications and Results at a Tertiary Center in the Thrace Region of Turkey

Evaluation of Invasive Prenatal Test Indications and Results at a Tertiary Center in the Thrace Region of Turkey

Missed Down Syndrome Cases after First Trimester False-Negative Screening—Lessons to be Learned

Posterior fossa assessment in the axial view of the head at 11-14 weeks of gestation in normal and aneuploid fetuses

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