scholarly journals A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).

2021 ◽  
Author(s):  
Justyna Anna Domaradzka ◽  
Marta Deperas ◽  
Ewa Obersztyn ◽  
Anna Kucińska-Chahwan ◽  
Nathalie Brison ◽  
...  
Keyword(s):  
Cell Line ◽  
Chromosomal Abnormalities ◽  
Marker Chromosome ◽  
Prenatal Testing ◽  
Comparative Genomic ◽  
Chromosome 2 ◽  
Non Invasive ◽  
Small Supernumerary Marker Chromosome ◽  
A Cell ◽  
Cytogenetic Analyses

Abstract Background: Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology. Case presentation: The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT). The invasive prenatal diagnosis revealed the mosaicism for a small supernumerary marker chromosome sSMC derived from chromosome 2. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed three signals of centromere 2 in 30% of the cells. GTG-banded metaphases revealed abnormal karyotype (47,XX,+mar[21]/46,XX[19]) and was confirmed by array comparative genomic hybridization (aCGH). Cytogenetic analyses (FISH, aCGH, karyotype) on fetal skin biopsies were performed and confirmed the genomic gain of the centromeric region of chromosome 2. In the placenta, three cell lines were detected: a normal cell line, a cell line with trisomy 2 and a third one with only the sSMC.Conclusion: Whole-genome Non-Invasive Prenatal Testing allows not only the identification of common fetal trisomies but also diagnosis of rare chromosomal abnormalities. Especially in such cases, it is extremely important to perform not only NIPT verification on a sample of material other than trophoblast, but also to apply appropriate research methods. Such conduct allows detailed analysis of the detected aberration, thus appropriate clinical validity.

scholarly journals A Placental Trisomy 2 Detected by NIPT Evolved in a Fetal Small Supernumerary Marker Chromosome (sSMC).

2020 ◽  
Author(s):  
Justyna Anna Domaradzka ◽  
Marta Deperas ◽  
Ewa Obersztyn ◽  
Anna Kucińska-Chahwan ◽  
Nathalie Brison ◽  
...  
Keyword(s):  
Cell Line ◽  
Chromosomal Abnormalities ◽  
Marker Chromosome ◽  
Prenatal Testing ◽  
Comparative Genomic ◽  
Chromosome 2 ◽  
Non Invasive ◽  
Small Supernumerary Marker Chromosome ◽  
A Cell ◽  
Cytogenetic Analyses

Abstract Background: Non-invasive prenatal testing (NIPT) is known to be more sensitive and more specific for common aneuploidy as well as sex determination at an early pregnancy compared to traditional biochemical and sonographic screening. However, recently the widespread use of the NIPT caused a neglecting of the limitations of this technology. Case presentation: The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT). The invasive prenatal diagnosis revealed the mosaicism for a small supernumerary marker chromosome sSMC derived from chromosome 2. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed three signals of centromere 2 in 30% of the cells. GTG-banded metaphases revealed abnormal karyotype (47,XX,+mar[21]/46,XX[19]) and was confirmed by array comparative genomic hybridization (aCGH). Cytogenetic analyses (FISH, aCGH, karyotype) on fetal skin biopsies were performed and confirmed the genomic gain of the centromeric region of chromosome 2. In the placenta, three cell lines were detected: a normal cell line, a cell line with trisomy 2 and a third one with only the sSMC.Conclusion: Whole-genome Non-Invasive Prenatal Testing allows not only the identification of common fetal trisomies but also diagnosis of rare chromosomal abnormalities. Especially in such cases, it is extremely important to perform not only NIPT verification on a sample of material other than trophoblast, but also to apply appropriate research methods. Such conduct allows detailed analysis of the detected aberration, thus appropriate clinical validity.

scholarly journals A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Justyna Domaradzka ◽  
Marta Deperas ◽  
Ewa Obersztyn ◽  
Anna Kucińska-Chahwan ◽  
Nathalie Brison ◽  
...  
Keyword(s):  
Cell Line ◽  
Chromosomal Abnormalities ◽  
Marker Chromosome ◽  
Prenatal Testing ◽  
Comparative Genomic ◽  
Chromosome 2 ◽  
Non Invasive ◽  
Small Supernumerary Marker Chromosome ◽  
A Cell ◽  
Cytogenetic Analyses

Abstract Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology. Case presentation The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT). The invasive prenatal diagnosis revealed the mosaicism for a small supernumerary marker chromosome sSMC derived from chromosome 2. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes revealed three signals of centromere 2 in 30% of the cells. GTG-banded metaphases revealed abnormal karyotype (47,XX,+mar[21]/46,XX[19]) and was confirmed by array comparative genomic hybridization (aCGH). Cytogenetic analyses (FISH, aCGH, karyotype) on fetal skin biopsies were performed and confirmed the genomic gain of the centromeric region of chromosome 2. In the placenta, three cell lines were detected: a normal cell line, a cell line with trisomy 2 and a third one with only the sSMC. Conclusion Whole-genome Non-Invasive Prenatal Testing allows not only the identification of common fetal trisomies but also diagnosis of rare chromosomal abnormalities. Especially in such cases, it is extremely important to perform not only NIPT verification on a sample of material other than trophoblast, but also to apply appropriate research methods. Such conduct allows detailed analysis of the detected aberration, thus appropriate clinical validity.

scholarly journals The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

2021 ◽  
Author(s):  
Meiying Cai ◽  
Na Lin ◽  
Xuemei Chen ◽  
Ying Li ◽  
Min Lin ◽  
...  
Keyword(s):  
Multicentre Study ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Southern China ◽  
Prenatal Testing ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Detection Rates ◽  
Non Invasive ◽  
Large Multicentre Study

Abstract Non-invasive prenatal testing (NIPT) is a fast, safe, and non-disruptive diagnostic method. At present, few studies have evaluated the screening efficiency of NIPT positive predictive value (PPV) in study subjects. Here, the results of NIPT in pregnant women were retrospectively analysed, and the detection rate, PPV and follow-up data were evaluated to determine its clinical value. A large multicentre study was conducted involving 52,855 pregnant women who received NIPT. Based on gestational age, amniotic fluid or umbilical cord blood were extracted for simultaneous karyotype and chromosome microarray analysis (CMA) in NIPT-positive patients. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 cases of chromosomal abnormalities, with a PPV of 45.1%. PPV of Trisomy 21 (T21), Trisomy 18 (T18), Trisomy 13 (T13), sex chromosomal aneuploidies (SCA) and copy number variations (CNV) were 78.9%, 35.3%, 22.2%, 36.9% and 32.9%, respectively. The PPV of T21, T18, and T13 increased with age whereas, the PPV of SCA and CNVs had little correlation with age. The PPV was significantly high in patients with advanced age along with an abnormal ultrasound.NIPT had a high PPV for T21, and a low PPV for T13 and T18, while screening for SCA and CNVs showed clinical significance. However, in case of NIPT screening for SCA and CNVs, simultaneous karyotype and CMA should be performed to increase the detection rates. Interventional prenatal diagnosis is still required in NIPT-positive cases to avoid false positives or unnecessary termination of pregnancy.

Non-Invasive Testing, Non-Invasive Counseling

2015 ◽  
Vol 43 (2) ◽  
pp. 228-240 ◽  
Author(s):  
Rachel Rebouché
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Test ◽  
Prenatal Testing ◽  
Private Companies ◽  
Major Health ◽  
Prenatal Health ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
A Company

A regulatory moment for prenatal health care is here. An increasing amount of legislative attention has concentrated on the decisions pregnant women make after prenatal testing. The impetus for this legislation is a new non-invasive prenatal genetic test (NIPT). From the beginning of pregnancy, cell-free fetal DNA travels across the placental lining into the mother’s bloodstream, increasing in quantity as the pregnancy progresses. Laboratories can now analyze that DNA for chromosomal abnormalities and for fetal sex at 10 weeks of gestation. NIPT, which relies on a sample of the pregnant woman’s blood, is painless, occurs early in pregnancy, and is available for clinical and commercial use. In 2013, major health insurance plans began to cover NIPT for certain populations of women, such as women over 35 years old. And private companies have started marketing prenatal testing kits directly to consumers, who return a blood sample from the prospective mother to a company laboratory.

Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases

2015 ◽  
Vol 38 (3) ◽  
pp. 218-232 ◽  
Author(s):  
Christopher Konialis ◽  
Constantinos Pangalos ◽  
. InterGenetics
Keyword(s):  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Diagnostic Yield ◽  
Prenatal Testing ◽  
Minimal Invasive ◽  
Molecular Diagnostic ◽  
Comparative Genomic ◽  
High Detection Rate ◽  
Molecular Approaches ◽  
The One

Introduction: The aim of this article is to provide a perspective of prenatal chromosomal diagnosis (PCD) derived from a single center's evolving experience from ∼90,000 consecutive prenatal cases and to highlight important issues and current dilemmas. Materials and Methods: Prenatal cases in this study (1985-2013) were referred for various indications, and PCD was performed by standard karyotype in 84,255 cases, multiplex ligation-dependent probe amplification (MLPA) panel in 3,010 cases and standalone array comparative genomic hybridization (aCGH) in 3,122 cases. Results: Classic karyotype revealed 1.7 and 7.9% of pathological cases in amniotic fluid and CVS samples, respectively, with common aneuploidies accounting for 59.6 and 64.3% of the total abnormal. Molecular approaches increased the diagnostic yield by 0.6% for MLPA and 1.6% for aCGH, uncovering pathogenic chromosomal abnormalities undetectable by karyotype analysis. Conclusions: Current molecular diagnostic capabilities and the recent introduction of noninvasive prenatal testing (NIPT) point to one current major dilemma in PCD, with serious implications in genetic counseling, relating on the one hand to reaping the benefits from the high detection rate afforded through aCGH but accepting an invasive risk, and on the other hand, offering a lower detection rate practically only for Down syndrome, with minimal invasive risk.

scholarly journals OC11.02: The importance of ultrasound preceding non‐invasive prenatal testing for fetal chromosomal abnormalities

2020 ◽  
Vol 56 (S1) ◽  
pp. 32-32
Author(s):  
I. Brown ◽  
S. Fernando ◽  
M. Menezes ◽  
F. Silva Costa ◽  
J. Ramkrishna ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Non Invasive
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