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.

The clinical utility of genome-wide non invasive prenatal screening

2017 ◽  
Vol 37 (6) ◽  
pp. 593-601 ◽  
Author(s):  
Francesco Fiorentino ◽  
Sara Bono ◽  
Francesca Pizzuti ◽  
Sara Duca ◽  
Arianna Polverari ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Prenatal Screening ◽  
Non Invasive ◽  
Genome Wide

Genome-wide cell-free DNA based non-invasive prenatal testing identifies trisomy 14 mosaicism in association with uniparental disomy

Pathology ◽  
2020 ◽  
Vol 52 ◽  
pp. S27
Author(s):  
Dean G. Phelan ◽  
Nicola Flowers ◽  
Olivia Giouzeppos ◽  
Paula Lall ◽  
Ellen Casey ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Prenatal Testing ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna ◽  
Genome Wide

Application of nipt by ngs sequencing in D.O. Ott research institute for obstetrics, gynaecology and reproductology

2020 ◽  
pp. 71-73
Author(s):  
П.Ю. Козюлина ◽  
Е.С. Вашукова ◽  
А.В. Моршнева ◽  
Н.М. Двойнова ◽  
О.Е. Тарасенко ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Maternal Blood ◽  
Non Invasive ◽  
Fetal Dna ◽  
Genome Wide ◽  
Research Institute

Представлены результаты оригинальной технологии использования неинвазивного пренатального скрининга на основе полногеномного секвенирования внеклеточной ДНК (вкДНК) плода в материнской крови. Охарактеризованы основные параметры технологии и предложены новые возможности ее использования. The results of the original technology of non-invasive prenatal screening based on genome-wide fetal DNA (cfDNA) sequencing of the fetus in maternal blood are presented. The main parameters of the technology are characterized and new possibilities for its use are proposed.

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.

Comment on “The clinical utility of genome-wide non invasive prenatal screening”

2017 ◽  
Vol 37 (10) ◽  
pp. 1050-1052 ◽  
Author(s):  
Francesca Romana Grati ◽  
Peter Benn
Keyword(s):  
Clinical Utility ◽  
Prenatal Screening ◽  
Non Invasive ◽  
Genome Wide

The implementation of non-invasive prenatal testing (NIPT) in the Netherlands

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Caterina M. Bilardo
Keyword(s):  
The Netherlands ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
Informed Choice ◽  
Great Emphasis ◽  
Reproductive Choices ◽  
Non Invasive ◽  
Genome Wide ◽  
The Government ◽  
The Cost

Abstract In the Netherlands prenatal screening is offered as a mean to increase reproductive choices of couples. All women are counseled on the existing options by trained midwives. The government puts a great emphasis on informed choice and on womens’ opinions and reactions to screenings options. Since 2017 non-invasive prenatal testing (NIPT, cf-DNA) is offered as first tier screening for aneuploidies in the genome-wide (GW) variant at the cost of 175 Euro’s. Uptake is around 50%. This screenings offer is perceived as unconventional for the traditionally cautious Dutch system.

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