First-Trimester Nuchal Translucency Screening for Fetal Aneuploidy

ABSTRACT After decades of research with a wide range of putative methodologies, at last a commercially viable technique has emerged for the noninvasive prenatal testing (NIPT) for the most common fetal aneuploidies, the massively parallel shotgun sequencing (MPSS). Recently, a number of groups have validated this technology to accurately detect most common trisomies as early as the 10th week of pregnancy with results available 1 to 2 weeks after maternal sampling. Several molecular techniques have been proposed for the detection of trisomies 21, 18 and 13, mainly by two different approaches in analyzing the cell-free fetal (cff) DNA: quantitative and singlenucleotide polymorphism (SNP)-based methods. Among them and to address some of the limitations of counting techniques, a new method called NATUS algorithm (Next-generation Aneuploidy Testing Using SNPs) has been recently introduced. This approach, as a targeted and noncounting technique, offers numerous advantages, although more evidence is needed from large prospective studies. Published studies have demonstrated that diagnostic parameters of NIPT are better than those of the current first trimester prenatal screening risk assessment for fetal trisomy 21. NIPT of trisomy 21 by MPS with or without preselection of chromosomes is promising and likely to replace the prenatal serum screening test that is currently combined with nuchal translucency measurement in the first trimester of pregnancy. However, before NIPT can be introduced as a screening test, more evidence is needed from large prospective diagnostic accuracy studies in first trimester pregnancies. How to cite this article Gabriel CC, Echevarria M, Rodríguez M, Serra B. Noninvasive Prenatal Testing for Fetal Aneuploidy. Donald School J Ultrasound Obstet Gynecol 2013;7(4):443-452.

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First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-0035-1558776 ◽

2015 ◽

Vol 36 (S 01) ◽

Author(s):

KO Kagan ◽

M Hoopmann ◽

P Wagner ◽

H Abele

Keyword(s):

Trisomy 21 ◽

Maternal Age ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Ductus Venosus ◽

Ultrasound Screening ◽

First Trimester Ultrasound

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Fetal nuchal translucency and skinfold to screen for fetal aneuploidy

The Ultrasound Review of Obstetrics & Gynecology ◽

10.3109/14722240500104898 ◽

2005 ◽

Vol 5 (1) ◽

pp. 18-22

Author(s):

Antoni Borrell ◽

Albert Fortuny ◽

Anna Gonce ◽

Virginia Borobio ◽

Josep M Martinez ◽

...

Keyword(s):

Nuchal Translucency ◽

Fetal Aneuploidy

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First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

Journal of Perinatal Medicine ◽

10.1515/jpm-2020-0383 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Bartosz Rajs ◽

Agnieszka Nocuń ◽

Anna Matyszkiewicz ◽

Marcin Pasternok ◽

Michał Kołodziejski ◽

...

Keyword(s):

Heart Defects ◽

False Positive Rate ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 13 ◽

Ductus Venosus ◽

Patau Syndrome ◽

A Prospective Study ◽

Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

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