Aberrant right subclavian artery as soft marker in the diagnosis of trisomy 21 during the first trimester of pregnancy

Purpose Aberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5–1.5% of the general population, being more frequently found among people with chromosomopathies, especially, trisomy 21. Despite being an anatomical finding, and thus, constant through the whole pregnancy, its value in the diagnosis of aneuploidies during the first trimester of pregnancy has been little studied. The aim of this study is to evaluate the reliability of the first-trimester ultrasound in the diagnosis of ARSA and its utility in the early diagnosis of aneuploidies. Methods This was a descriptive, observational, cross-sectional study that included all fetuses with sonographic diagnosis of ARSA between 2011 and 2018. Results There were 257 cases of ARSA diagnosed. The first-trimester ultrasound showed the following results in the detection of ARSA: sensitivity of 68% (CI 95% 60.8%–74.5%), specificity of 99.9% (CI 95% 99.9%–100%), positive predictive value of 93.7% (CI 95% 88.1%–96.8%), and negative predictive value of 99.6% (CI 95% 99.5%–99.7%). Due to the presence of ARSA, two cases of trisomy 21, that would have been missed in the first trimester, were diagnosed, using ARSA as a soft marker and modifying the risk obtained by the combined screening as part of the genetic sonogram of the first trimester. Conclusions ARSA visualization during the first-trimester ultrasound is trustworthy and it can improve the detection of trisomy 21 in some cases of aneuploidy missed during the combined screening of the first trimester.

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. Methods Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Results Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. Conclusions Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.

Evaluation of Chromosomal Abnormalities and Copy Number Variations in Fetuses with Ultrasonic Soft Markers

Background: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.Methods: Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Results: Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups.Conclusions: Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect obstetrical outcomes.

Perinatal Outcome of Fetal Echogenic Bowel: A Single-Center Retrospective Cohort Study

<p><strong>Objective:</strong> The aim of this study is to evaluate perinatal outcome of fetal echogenic bowel.<br /><strong></strong></p><p><strong>Study Design:</strong> In this retrospective cohort study, fetuses with echogenic bowel diagnosed and followed in our center between 2013-2017 were included. Fetuses and infants were evaluated in terms of antenatal comorbidities and postnatal persistent diseases. Infants were followed-up to June 2018 from time of diagnosis. Demographic questionnaire and face to face interview were used to obtain data including immune system diseases and respiratory system pathologies in infants. <br /><strong></strong></p><p><strong>Results:</strong> A total of 100 fetuses with echogenic bowel were included in the study. Fetal aneuploidy was detected in 7 (7%) cases. Trisomy 21 was the most common aneuploidy and identified in 4 (4%) cases. Other chromosomal disorders were tetrasomy 12p (1%), 69XXX (1%) and 46 XX, t (2,22) (9q9) (1%). A fetal echogenic bowel was associated with major congenital malformations in 25 (%25) cases. Cardiac abnormality was the most prevalent (%7). First and second trimester vaginal bleeding history was found in 5 pregnant women. In 3 case with isolated echogenic bowel (no congenital malformation and aneuploidy), lactose intolerance, celiac disease, and non-obstructive hydrocephalus were diagnosed in early childhood. <br /><strong></strong></p><p><strong>Conclusion:</strong> Isolated fetal echogenic bowel which can be considered as a soft marker for aneuploidy may be associated with lactose intolerance and celiac disease. Further clinical studies are warranted to evaluate this relationship.<br /><br /></p>

Prefrontal Space Ratio—A Novel Ultrasound Marker in the Second Trimester Screening for Trisomy 21: Systematic Review and Meta-Analysis

To determine the value of prefrontal space ratio (PFSR) as a novel soft marker in the second-trimester screening for trisomy 21, PubMed and two other databases were searched electronically for the relevant materials published between January 2000 and December 2015. Four studies were included in the mini meta-analysis. All of the studies were retrospective and of high quality. Overall sample size was 293 trisomy 21 and 609 euploid fetuses. The pooled mean PFSR was 0.322 (95% confidence interval [CI], 0.256-0.388) and 1.205 (95% CI, 0.997-1.413) in trisomy 21 and euploid fetuses, respectively. This ratio was found to be significantly lower in trisomy 21 fetuses compared to euploid ones ( P < .0001). The pooled detection rate was 87.2% at a false-positive rate of 5%. Pooled positive and negative likelihood ratios measured 17.2 and 0.146, respectively. In conclusion, PFSR is an efficient marker that may be investigated in the second-trimester ultrasound screening for trisomy 21.