OP15.02: “Soft marker” evaluation of ovarian mobility in the normal and endometriotic ovary

2015 ◽  
Vol 46 ◽  
pp. 97-97 ◽  
Author(s):  
B. Gerges ◽  
C. Lu ◽  
U. Menakaya ◽  
S. Reid ◽  
B. Nadim ◽  
...  
Keyword(s):  
2020 ◽  
Author(s):  
Meiying Cai ◽  
Na Lin ◽  
Liangpu Xu ◽  
hailong huang

Abstract 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.


2015 ◽  
Vol 22 (6) ◽  
pp. S84 ◽  
Author(s):  
B Gerges ◽  
C Lu ◽  
U Menakaya ◽  
S Reid ◽  
B Nadim ◽  
...  

2017 ◽  
Vol 33 (4) ◽  
pp. 269-277
Author(s):  
Mohammad Zare Mehrjardi ◽  
Elham Keshavarz

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.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Meiying Cai ◽  
Na Lin ◽  
Xuemei Chen ◽  
Meimei Fu ◽  
Nan Guo ◽  
...  

Abstract 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.


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