The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities

2018 ◽  
Vol 40 (06) ◽  
pp. 743-748
Author(s):  
Ismail Tekesin
Keyword(s):  
Turner Syndrome ◽  
Trisomy 21 ◽  
Detection Rate ◽  
First Trimester ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
Crown Rump Length ◽  
First Trimester Ultrasound

Abstract Purpose To evaluate the performance of first-trimester ultrasound screening involving a detailed anomaly scan for the detection of trisomy 18, trisomy 13, triploidy, Turner syndrome and trisomy 21. Methods Data of pregnant women who underwent aneuploidy screening at 11–13 weeks of gestation was retrospectively analyzed. Crown-rump length (CRL), fetal nuchal translucency thickness (NT) and nasal bone (NB) anatomy, blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) were assessed. Furthermore, a detailed scan for fetal anatomical anomalies (FA) was carried out. Performance of these markers was assessed by logistic regression and ROC analyses for different screening models. Results 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndrome: 17; trisomy 21: 75 cases). 70–100 % of the fetuses with trisomy 18 and 13, triploidy and Turner syndrome but only 34.7 % with trisomy 21 had at least one fetal defect. Considering all aneuploidies, the detection rate (DR) for screening based on MA+NT+NB+TV+DV was 90.6 % and improved to 96.0 % if an FA was added (fixed false-positive rate: 3 %). If screening was based on MA+NT+FA, the detection rate for all aneuploidies was 85.2 %. However, the DR for trisomy 18, trisomy 13, triploidy and Turner syndrome (excluding trisomy 21) was 94.6 %, indicating the high diagnostic value of an anomaly scan for these aneuploidies. Conclusion Incorporation of a detailed fetal anomaly scan (FA) into first-trimester screening algorithms can improve the detection rates for trisomy 18 and 13, triploidy and Turner syndrome.

First-trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency, and different methods of ductus venosus assessment

2017 ◽  
Vol 37 (7) ◽  
pp. 680-685 ◽  
Author(s):  
Philipp Wagner ◽  
Jiri Sonek ◽  
Jessika Klein ◽  
Markus Hoopmann ◽  
Harald Abele ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
First Trimester Ultrasound

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

scholarly journals Early Prediction of Twin-to-Twin Transfusion Syndrome with the use of First Trimester Ultrasound Markers: Is it Possible?

2013 ◽  
Vol 7 (1) ◽  
pp. 66-72
Author(s):  
Panagiotis Antsaklis ◽  
Marianna Theodora ◽  
Aristides Antsaklis ◽  
Vasileios Pergialiotis ◽  
Vasileios Papazefkos
Keyword(s):  
Prospective Studies ◽  
Obstet Gynecol ◽  
Reference Lists ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Early Prediction ◽  
Crown Rump Length ◽  
Assisted Reproduction Techniques ◽  
First Trimester Ultrasound

ABSTRACT Background The incidence of multifetal gestation and particularly of twin pregnancy has raised as a result of the introduction of assisted reproduction techniques (ART). Twinto- twin transfusion syndrome (TTTS) is a serious complication observed in monochorionic pregnancies producing severe morbidity and ultimately resulting in loss of one or all fetuses. We assessed the potential of early prediction of TTTS among three markers screened early in pregnancy [nuchal translucency (NT)] and its discrepancy and discordance, crown-rump length (CRL) and its discrepancy and discordance among twins and ductus venosus (DV) Doppler abnormalities. Materials and methods We conducted a systematic review searching Medline (1966-2011) and Scopus (2004-2011) engines, as well as reference lists from all included studies. Twelve studies were finally enrolled in the present review, including seven prospective studies, three prospective studies and one that could not be defined either as prospective or retrospective. Conclusion It seems that DV Doppler may denote this syndrome's possible future development and should be assessed early in monochorionic pregnancies. Further studies are definitely needed in order to evaluate the place of CRL and NT discrepancy and discordance in predicting TTTS. How to cite this article Antsaklis A, Pergialiotis V, Theodora M, Papazefkos V, Antsaklis P. Early Prediction of Twin-to-Twin Transfusion Syndrome with the use of First Trimester Ultrasound Markers: Is it Possible? Donald School J Ultrasound Obstet Gynecol 2013;7(1):66-72.

scholarly journals Performance of First-Trimester Screening between Gestational Weeks 7 and 13

2009 ◽  
Vol 55 (8) ◽  
pp. 1564-1567 ◽  
Author(s):  
Niels Tørring
Keyword(s):  
Blood Sample ◽  
Trisomy 21 ◽  
Detection Rate ◽  
First Trimester ◽  
Trisomy 13 ◽  
First Trimester Screening ◽  
Blood Samples ◽  
Before And After ◽  
Trimester Screening ◽  
Gestational Week

Abstract Background: Screening for fetal chromosome abnormalities in the first trimester includes analysis of the serological markers pregnancy-associated plasma protein A (PAPP-A) and free β human choriogonadotropin (free β hCG). The blood sample is traditionally taken around week 12 of gestation, but the performance of earlier blood sampling is not well documented. Methods: We studied 44 537 singleton pregnancies. Complete first-trimester screening took place between November 2003 and March 2009, and blood samples were taken between 7 weeks + 5 days and 13 weeks + 6 days. Results: Of 120 cases of trisomy 21, 108 were diagnosed in the first-trimester screening (detection rate 90%). When the blood sample was taken before gestational week 10, the detection rate of trisomy 21 was 97% (70 of 72), whereas 80% were detected (38 of 48) after week 10 (χ2 = 0.0035). For trisomy 18, trisomy 13, and triploidy, 65% (13 of 20) were detected before gestational week 10, and 73% (11 of 15) after (not significant). All 6 cases of triploidy before and after gestational week 10 were detected. The screen positive rate and the maternal age were similar before and after week 10 of gestation. Conclusions: Screening for fetal aneuploidy can be performed with good results with the blood sample taken as early as week 7 of gestation. Blood samples taken before gestational week 10 showed a high detection rate of fetal trisomy 21, with no difference in the detection of fetal trisomy 18, trisomy 13, or triploidy.

scholarly journals First Trimester Ultrasound Screening: An Update

2010 ◽  
Vol 4 (2) ◽  
pp. 97-116 ◽  
Author(s):  
JD Sonek ◽  
M Glover ◽  
M Zhou ◽  
KH Nicolaides
Keyword(s):  
Gestational Age ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Great Promise ◽  
Ultrasound Screening ◽  
Detection Rates ◽  
Crown Rump Length

Abstract For many years, the main use of ultrasound in the first trimester of pregnancy was to confirm viability and to establish gestational age. Indeed, the crown-rump length measurement in the first trimester remains the most accurate method to estimate the gestational age even today. However, improvements in ultrasound equipment and improvement in our understanding of normal and abnormal fetal development allows us now to perform a much more complete first trimester fetal evaluation. This pertains not only to the diagnosis of fetal anomalies but also to screening for fetal defects. The combination of the nuchal translucency measurement and maternal serum biochemistries (free β-hCG and PAPP-A) has been shown to be an extremely efficient way to screen for fetal aneuploidy. The addition of other first trimester markers such as the nasal bone evaluation, frontomaxillary facial angle measurement, and Doppler evaluation of blood flow across the tricuspid valve and through the ductus venosus improves the screening performance even further by increasing the detection rates and decreasing the false positive rates. Several of the first trimester markers also are useful in screening for cardiac defects. Furthermore, significant nuchal translucency thickening has been associated with a variety of genetic and nongenetic syndromes. A recently described first trimester marker called the intracerebral translucency appears to hold great promise in screening for open spine defects. Finally, it appears that a first trimester evaluation (uterine artery Doppler and the measurement of certain biochemical markers in the maternal serum) significantly improves the assessment of the risk of preeclampsia.

The BS/BSOB Ratio in Aneuploidy Fetuses at 11-13 Weeks Gestation

2015 ◽  
Vol 37 (4) ◽  
pp. 321-326 ◽  
Author(s):  
Ching Hua Hsiao ◽  
Po Jen Cheng ◽  
S.W. Steven Shaw ◽  
Yin Jiun Tseng ◽  
Ran Chou Chen ◽  
...  
Keyword(s):  
Brain Stem ◽  
Posterior Fossa ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Normal Population ◽  
Fetal Brain ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Crown Rump Length ◽  
Monosomy X

Objective: The posterior fossa of normal fetuses was evaluated and compared with those having chromosomal abnormalities at 11-13+6 weeks' gestation in Chinese population. Methods: In 518 normal fetuses referred to first trimester screening, fetal brain stem (BS) and brain stem to occipital bone distance (BSOB) were measured prospectively. The BS and BSOB were also measured on stored images in fetuses with confirmed trisomy 21 (n = 38), Trisomy 18 (n = 26), Trisomy 13 (n = 8), and monosomy X (n = 8). Results: The BS diameter and BSOB distance correlated linearly with fetal crown-rump length (CRL) by regression analysis. The BS to BSOB ratio was below the 5th percentile in 2 (5.26%), 11 (44%), 4 (50%) and 4 (50%) fetuses with trisomy 21, trisomy 18, trisomy 13 and monosomy X, respectively. Thus, both BS and BS/BSOB ratio were significantly lower in trisomy 18, trisomy 13 and monosomy X fetuses when compared to the reference range but not in fetuses with Trisomy 21. Conclusion: In ultrasound scans performed at the 11-13+6 gestation weeks, fetuses with trisomy 18, 13, and monosomy X had lower BS/BSOB ratios. But trisomy 21 fetuses did not show significant differences in posterior fossa compared to the normal population.

Sensitivity of multiple first trimester sonomarkers in fetal aneuploidy detection

2015 ◽  
Vol 43 (3) ◽  
Author(s):  
Pharuhas Chanprapaph ◽  
Chitnapin Dulyakasem ◽  
Buraya Phattanchindakun
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Specific Marker ◽  
First Trimester Screening ◽  
Crown Rump Length ◽  
Fetal Aneuploidy ◽  
Single Marker ◽  
Trimester Screening

AbstractMultiple first trimester aneuploidy sonomarkers have been introduced recently.To evaluate the efficacy of first trimester sonomarkers in fetal aneuploidy detection without serum markers.There were entirely 280 fetuses with 11–13+6 weeks’ gestation (crown-rump -length between 45–84 mm) enrolled to assess nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow. The performance of each single marker and multiple markers for major fetal aneuploidy screening were determined.Totally, 190 fetuses (67.85%) underwent invasive prenatal diagnosis with 14 major chromosome abnormalities identified including 4 cases of trisomy 21, 4 cases of trisomy 18, 3 cases of trisomy 13 and 3 cases of 45, XO. NT was the most accurate single marker with sensitivity of 71.43% and false-positive rate (FPR) of 4.14% while NB or TR was the most specific marker (99.6%) but lacked sensitivity. Among multiple first trimester-screening sonomarkers, NT plus TR evaluation were the most sensitive test (78.57%) with FPR of 4.76%.NT was the most accurate first trimester-screening marker for fetal aneuploidy. NT plus TR assessment as double-screening markers could improve the sensitivity by 7% leading to the lower number of unnecessary invasive prenatal diagnosis.

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