scholarly journals VP30.04: Isolated fetal perigastric echogenic focus on routine prenatal screening ultrasound: prevalence, clinical significance and management considerations

2021 ◽  
Vol 58 (S1) ◽  
pp. 221-221
Author(s):  
H. Roberts ◽  
K. Pone ◽  
P. Mittal Green
Keyword(s):  
Clinical Significance ◽  
Prenatal Screening ◽  
Screening Ultrasound

scholarly journals Guidelines of the Italian Society of Videosurgery in Infancy (SIVI) for the minimally invasive treatment of fetal and neonatal ovarian cysts

2020 ◽  
Vol 42 (1) ◽  
Author(s):  
Salvatore Fabio Chiarenza ◽  
Maria Luisa Conighi ◽  
Andrea Conforti ◽  
Cosimo Bleve ◽  
Ciro Esposito ◽  
...  
Keyword(s):  
Minimally Invasive ◽  
Prenatal Screening ◽  
Minimally Invasive Treatment ◽  
Ovarian Cysts ◽  
Minimally Invasive Approach ◽  
Invasive Treatment ◽  
Invasive Approach ◽  
Technological Improvement ◽  
Treatment Uncertainties ◽  
Screening Ultrasound

In the last three decades, fetal ovarian cysts were diagnosed more frequently, due to technological improvement and the increasing use of prenatal screening ultrasound. Nonetheless, treatment uncertainties are still present, either prenatally or postnatally. Recently, significant innovations on diagnosis and treatment have been proposed and a more conservative, minimally invasive approach may be offered to the Pediatrician or the Surgeon who face with this condition during prenatal or neonatal age. (...)

scholarly journals Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 11
Author(s):  
Xiaofan Zhu ◽  
Doris Yuk Man Lam ◽  
Matthew Hoi Kin Chau ◽  
Shuwen Xue ◽  
Peng Dai ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Prenatal Screening ◽  
Uniparental Disomy ◽  
Fetal Loss ◽  
Non Invasive ◽  
Genome Wide ◽  
Positive Rate ◽  
Trisomy 7 ◽  
Combined Data ◽  
Fetal Karyotype

Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two independent cohorts from two laboratories where similar NIPS metrics were applied. A total of 70,441 singleton cases who underwent genome-wide NIPS were analyzed, among which 39 pregnancies were positive for trisomy 7, yielding a screen-positive rate of 0.055% (39/70,441). There were 28 cases with invasive testing results available; the positive predictive value (PPV) was 3.6% (1/28). We then searched the published NIPS studies to generate a large cohort of 437,873 pregnancies and identified 247 cases (0.056%) that were screened positive for trisomy 7. The overall PPV was 3.4% (4/118) in the combined data. The presence of uniparental disomy 7 was not detected in the NIPS trisomy 7-positive pregnancies with normal fetal karyotype. Among the 85 cases with pregnancy outcome available in combined data, 88.2% were normal live births, 14.1% had intrauterine growth restriction, preterm birth or low birth weight, 3.5% presented with ultrasound abnormality, and no fetal loss was observed. Our data provide valuable information for counseling and management of trisomy 7-positive NIPS pregnancies.

scholarly journals Analysis of Prenatal Diagnosis Results and Pregnancy Outcome of Non-invasive Prenatal Screening High-risk Fetuses

2020 ◽  
Author(s):  
Yan Luo ◽  
Yanmei Sun ◽  
Haishen Tian ◽  
Hezhen Lu ◽  
Lishuang Ma ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Clinical Significance ◽  
Prenatal Screening ◽  
Trisomy 13 ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive ◽  
Chromosomal Karyotype

Abstract BackgroundWith the development of whole-genome sequencing, small chromosomal deletions and duplications could be found by NIPT. This study is to evaluate the clinical significance of fetal chromosomal karyotype analysis and chromosomal microarray analysis (CMA) to clarify the clinical significance of 528 cases of high-throughput sequencing noninvasive prenatal screening suggesting high-risk cases. MethodsNon-invasive prenatal screening showed that the fetus 21, 18, 13, sex chromosomes, and other chromosomes are at high risk of aneuploidy and fetal chromosome copy number variations (CNVs) are at high risk, requiring prenatal diagnosis Pregnant women are the research objects. After obtaining informed consent, fetal cells were obtained by amniocentesis or umbilical vein puncture for chromosomal karyotype and CMA analysis. All cases of childbirth were followed up by telephone over a period of 1 year.Results Among 528 fetuses, 447 were at high risk of aneuploidy. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 85.24%, 51.52%, 12.5%, 50.82%, and 5.88% respectively. Another 81 cases of non-invasive prenatal screening suggest CNVs High risk. The PPV for CNVs was 34.57% .Among them, CNVs has a clear pathogenic significance can reach 24.69% . Follow-up of childbirth cases: Of the 62 pregnant women diagnosed with fetal SCA, 13 chose to continue their pregnancy, and the overall continued pregnancy rate was 20.97% (13/62); CNVs has no clear significance/no disease reported in 8 cases, 1 case After being lost to follow-up, all 7 cases chose to continue their pregnancy. One of the children was not informed about the specific situation; one girl had six fingers on both hands, and the rest had no abnormal growth; the remaining five children developed normally. ConclusionThis study has obtained relatively reliable PPV data for NIPT screening for chromosomal aneuploidy, which provides a reliable basis for clinical genetic counseling and treatment; it is recommended to perform prenatal diagnosis and perform chromosomal nucleus when non-invasive and high-risk prompts suspicious chromosomal abnormalities (over/under/microdeletion/microduplication). Type and CMA inspection, so that the inspection is more comprehensive and not easy to miss the diagnosis.

Clinical significance of cathepsin E in pancreatic juice in the diagnosis of pancreatic ductal adenocarcinoma

2000 ◽  
Vol 15 (11) ◽  
pp. 1333-1338 ◽  
Author(s):  
Koji Uno ◽  
Takeshi Azuma ◽  
Masatsugu Nakajima ◽  
Kenjiro Yasuda ◽  
Takanobu Hayakumo ◽  
...  
Keyword(s):  
Pancreatic Ductal Adenocarcinoma ◽  
Clinical Significance ◽  
Pancreatic Juice ◽  
Ductal Adenocarcinoma ◽  
Cathepsin E

Diversity of Helicobacter pylori CagA gene and its clinical significance

2001 ◽  
Vol 120 (5) ◽  
pp. A56-A56
Author(s):  
T AZUMA ◽  
Y ITO ◽  
M DOJO
Keyword(s):  
Helicobacter Pylori ◽  
Clinical Significance ◽  
Caga Gene
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