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

Abstract

ObjectivesTo 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.

A case of successfully treated fetal supraventricular tachycardia in the late first trimester

“…In an earlier paper by the authors, extracardiac abnormalities were demonstrated in 53.6% and cardiac abnormalities in 41.1% of fetuses with trisomy 13 [7]. Tachycardia was raised as a common feature of this condition [8][9][10][11].…”

“…Tachycardia was raised as a common feature of this condition [8][9][10][11]. Typically, in an uncomplicated pregnancy, FHR increases from about 110 bpm at 5 weeks of gestation to 170 bpm at 9 weeks, with subsequent gradual decrease in FHR values observed, reaching about 150 bpm at 13 weeks of gestation 7 . In the previous study we observed mean FHR in fetuses with trisomy 13 at 170 bpm (range: 148-201 bpm) and an FHR above the 95 th percentile in 62.5% of them [7].…”

First Trimester Tricuspid Regurgitation: Clinical Significance

“…Some trisomies, such as 13 and 18, can easily be diagnosed in the prenatal period through the frequent major congenital malformations readily observable on ultrasound [ 43 ]. Trisomy 13 is associated with numerous congenital anomalies in the central nervous system (holoprosencephaly), at the craniofacial level (cleft lift and palate), and urogenital malformations (polycystic kidney) [ 43 , 46 , 47 ]. Trisomy 18 can affect several organs and systems, namely with growth anomalies, malformations of the skull and face (enlarged fontanels, microcephaly, triangular face shape, prominent occiput), the thorax and abdomen (short neck and sternum, umbilical or inguinal hernia), genital system (cryptorchidism, clitoral hypertrophy), extremities (clenched hands with overlapping fingers, rocker-bottom foot), central nervous system malformations (cerebellar hypoplasia, hydrocephalus, facial palsy) and cardiac anomalies, often in multiple forms (ventricular septal defects, patent ductus arteriosus) [ 48 ].…”

“…There is significant evidence that screening for chromosomal abnormalities can be performed effectively in the first trimester [ 45 ]. Some ultrasound markers, when present, might be an indicator for chromosomal anomalies, and TR is a valuable clue [ 46 ].…”

Enhancing Fetal Anomaly Detection in Ultrasonography Images: A Review of Machine Learning-Based Approaches

“…Tekesin et al demonstrated how valuable first-trimester US scanning can be performed by incorporating a detailed fetal anomaly scan into first-trimester screening algorithms, which is conducive to an improvement in the detection of trisomy 18 and 13, triploidies, and Turner syndrome [158,159]. Sun et al developed a nomogram based on US images of fetuses with trisomy 21 in this context.…”