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Background:
Non-invasive prenatal testing (NIPT) has good screening performance for common chromosomes, but it may have false positive (FP) and false negative (FN) results for various reasons. For abnormal NIPT results, the combination of fetal ultrasound phenotypes will provide more fetal information for prenatal diagnosis. The aim of this study...
Context in source publication
Context 1
... the 112 cases of pregnant women, a total of 48 cases had fetal ultrasound abnormalities, as shown in Table 3. The ultrasound phenotypes of T21 TP fetuses were diverse, including normal, soft marker, soft marker combined with structural malformation, FGR, etc., but ultrasonic normal and soft marker accounted for 43.3% and 36.7%, ...Similar publications
Objective
To investigate the effects of white blood cell (WBC) count on fetal fraction (FF), which is an essential quality control for obtaining reliable results, and on the rate of screen failures in noninvasive prenatal screening (NIPS).
Methods
Noninvasive prenatal screening, serum lipid and liver enzyme level measurements, and WBC count were p...
Citations
... Consequently, this disturbance manifests as anomalies in both physical form and physiological function, ultimately giving rise to fetal malformations. Ultrasound's capacity extends beyond detecting fetal structural abnormalities; it also enables the identification of subtle irregularities referred to as "soft marker abnormalities" [17,25,26]. These micro-structural fetal irregularities, often temporary and nonspecific, may diminish over the course of pregnancy. ...
Objective
To evaluate the clinical value of ultrasound findings in the screening of fetal chromosomal abnormalities and the analysis of risk factors for chromosome microarray analysis (CMA) abnormalities.
Methods
We retrospectively analyzed the datasets of 15,899 pregnant women who underwent prenatal evaluations at Affiliated Maternity and Child Health Care Hospital of Nantong University between August 2018 and December 2022. Everyone underwent ultrasound screening, and those with abnormal findings underwent CMA to identify chromosomal abnormalities.
Results
The detection rates for isolated ultrasound anomalies and combined ultrasound and CMA anomalies were 11.81% (1877/15,899) and 2.40% (381/15,899), respectively. Among all ultrasound abnormalities, detection rates for isolated ultrasound soft marker anomalies, isolated structural abnormalities, and both ultrasound soft marker anomalies with structural abnormalities were 82.91% (1872/2258), 15.99% (361/2258), and 1.11% (25/2258), respectively. The detection rate of abnormal chromosomes in pregnant women with abnormal ultrasound results was 16.87% (381/2258). The detection rates were 13.33% in cases with two or more ultrasound soft markers anomalies, 47.37% for two or more structural anomalies, and 48.00% for concomitant ultrasound soft marker and structural anomalies.
Conclusions
Enhanced detection rates of chromosomal anomalies in fetal malformations are achieved with specific ultrasound findings (NT thickening, cardiovascular abnormalities, and multiple soft markers) or when combined with high-risk factors (advanced maternal age, familial history, parental chromosomal anomalies, etc.). When the maternal age is over 35 and with ≥2 ultrasound soft marker anomalies accompanied with any high-risk factors, CMA testing can aid in the diagnosis of prenatal chromosomal abnormalities.
... Ultrasound soft markers are common in fetuses with chromosomal abnormalities, including absent nasal bone or dysplasia, thickened nuchal translucency ventriculomegaly, choroid plexus cysts, aberrant subclavian artery, persistent left superior vena cava, intracardiac echogenic focus, renal echogenicity enhancement, polyhydramnios or oligohydramnios, and single umbilical artery 19 . These nonspeci c and slight fetal structural changes may be normal and disappear with the progress of pregnancy. ...
With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the population of high-risk pregnancies is gradually increasing. In this study, 4,211 pregnant women who underwent chromosomal microarray analysis(CMA) for high-risk indications were analyzed. The results showed that the overall prenatal detection rate of CMA was 11.4%(480/4211), among which the abnormal chromosome number was 5.82%(245/4211), copy number variants༈CNVs༉was 5.58%༈235/4211༉. Additionally, the detection rate of clinically significant copy number variants (CNVs) was 3.78% (235/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rate of abnormal chromosomes for pregnant women with AMA was 6.42%༈30/467༉, 6.01%༈50/832༉with high-risk MSS, 39.09%༈224/573༉with high-risk NIPT, 9.21%༈127/1379༉with abnormal ultrasound, and 5.1%༈49/960༉ with other indications. During follow-up, of the 4211 fetuses, 3677 fetuses (3677/4211,87.32%) were normal after birth, 462 fetuses (462/4211,10.97%) were terminated pregnancy, 51 (51/4211,1.21%) fetuses were abnormal after birth, and 21 (21/4211,0.50%) fetuses refused follow-up. These findings indicate that the diagnostic rate of CMA varies significantly among different indications, and can serve as a guide for clinicians to evaluate the application range of CMA technology in prenatal diagnosis.
A steady increase in average maternity age at the time of first childbirth lead to a higher risk of fetal chromosomal abnormalities. The Order No. 1130n of the Ministry of Health of the Russian Federation establish the screening protocol at 11–14 weeks of gestation with assessing the followed criteria of fetal chromosomal pathology: the nuchal translucency thickness, nasal bone measurement, ductus venosus pulsatility index, tricuspid regurgitation, and heart rate. The value of non-invasive prenatal testing (NIPT) in the early prenatal diagnosis of the most common chromosomal abnormalities, as the trisomies 21, 18, 13, and monosomy X is also increasing. Additionally, numerous other fetal karyotype abnormalities can also be suspected at 11–14 weeks of gestation by revealing a number of other ultrasound signs. The article presents the literature review on additional ultrasound signs of various, both more and less common, chromosomal abnormalities. Pathological signs, abnormalities of fetal anatomy and extrafetal structures in the first trimester, which could be used as additional ultrasound signs of chromosomal pathology of various organs and systems (central nervous system and head, heart and blood vessels, urinary system, abdominal organs, fetal skeleton, as well as the placenta, umbilical cord, amniotic membranes) are described in the article. Despite the use of NIPT, including its extended panels, there remains a need to use ultrasound to detect the signs of rarer, but no less significant chromosomal pathologies, such as triploidies, mosaic trisomies, rare autosomal trisomies, duplications, and deletions.
Purpose The aim of the study was to assess fetal ears on prenatal 3D ultrasound and compare ear surface patterns and measurements between fetuses with syndromes and healthy fetuses.
Materials and Methods Our study is based on 3D ultrasound images of 100 fetuses between the 20th and 37th week of gestation. We compared 50 ears of fetuses with syndromes (syndrome group) to 50 gestational age-matched ears of healthy fetuses (control group). The syndrome group consisted of fetuses with Trisomy 21 (n=13), Trisomy 18 (n=9) and other syndromes (n=28). The evaluation was based on measuring the ear length and width as well as developing categories to describe and compare different ear surface anomalies.
Results Ears of fetuses with Trisomy 18 were on average 0.423 cm smaller in length (P<0.001) and 0.123 cm smaller in width (P=0.031) and grew on average 0.046 cm less in length per week of gestation (P=0.027) than those of healthy fetuses. Ears of fetuses with Trisomy 21 differed from healthy fetuses regarding the form of the helix (P=0.013) and the ratio of the concha to the auricle (P=0.037). Fetuses with syndromes demonstrated less ear surface details than their controls (syndrome group: P=0.018, P=0.005; other syndromes subgroup: P=0.020). We saw an increased richness of ear surface details at a later gestational age both in the fetuses with syndromes and the healthy fetuses.
Conclusion Ears of fetuses with Trisomy 18 were smaller than their matched controls. Fetuses with syndromes varied in the evaluation of their ear surface from those of healthy fetuses. The ear surface can be analyzed with 3D ultrasound and might be useful as a screening parameter in syndrome diagnosis in the future.
Objective
We aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and microdeletion/microduplication syndromes.MethodsA total of 7177 pregnant women were enrolled in the study from June 2020 to March 2022 at Xijing Hospital, China. Cases with NIPT-Plus-positive results were further confirmed by chromosomal karyotyping and a chromosomal microarray analysis.ResultsA total of 112 positive cases (1.56%) were identified by NIPT-Plus, including 60 chromosome aneuploidies and 52 microdeletion/microduplication syndromes. Ninety-five cases were validated by amniocentesis, and 57 were confirmed with true-positive results, comprising 18 trisomy 21, 4 trisomy 18, 1 trisomy 13, 17 sex chromosome aneuploidies, 1 other aneuploidy, and 16 microdeletion/microduplication syndromes. The positive predictive value of total chromosomal abnormalities was 60% (57/95). For trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, other aneuploidies and microdeletion/microduplication syndromes, the sensitivity was all 100%, the specificity was 100, 99.986, 100, 99.888, 99.958, and 99.636%, and the positive predictive value was 100, 80, 100, 68, 25, and 38.10%, respectively. For all clinical characteristics, the abnormal maternal serum screening group was found to have the highest prevalence of chromosomal abnormalities (1.54%), and the ultrasound abnormality group presented the highest positive predictive value (73.33%).ConclusionsNIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice.
