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Application value of NIPT for uncommon fetal chromosomal abnormalities.

ABSTRACT: Objective:To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. Methods:The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies. Results:Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up. Conclusion:NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.

SUBMITTER: Yin L

PROVIDER: S-EPMC7456042 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Application value of NIPT for uncommon fetal chromosomal abnormalities.

Yin Lianli L Tang Yinghua Y Lu Qing Q Pan Aiping A Shi Mingfang M

Molecular cytogenetics 20200828

<h4>Objective</h4>To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.<h4>Methods</h4>The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis ...[more]

PMID: 32874204

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Project description:The biological importance of calcifications occasionally noted in fetal tissues (mainly liver) at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001). The most frequent aberrations among cases included trisomy 21 (33%), trisomy 18 (22%), and monosomy X (18%). A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004). Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001).The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer special attention towards co-existence of malformations, as this would be a strong indicator for a chromosomal abnormality.

Project description:BackgroundTo explore the significance of multiple ultrasonic soft indexes such as Nuchal translucency (NT) in detection of cardiac structural malformations and chromosome abnormalities in fetal systematic screening in the first trimester, and to understand the value of combined transvaginal ultrasound (TVUS) in congenital heart disease (CHD) screening.MethodsA total of 3,356 pregnant women who underwent early NT screening were screened by systematic ultrasound to monitor and evaluate the sensitivity and specificity of NT, tricuspid valve (TV), ductus venosus (DV) in the diagnosis of fetal CHD. According to the different intervals of NT thickening, the patients were divided into four groups, the detection rates of CHD and abnormal karyotypes in each group were compared, and the consistency of transabdominal and combined transvaginal ultrasonography was compared.ResultsA total of 3,356 cases of early pregnancy were examined by NT. A total of 66 cases of CHD were detected, and the detection rate was 1.97%. Among the 66 CHD cases, 14 cases underwent chromosome karyotype examination and 12 of those cases had abnormal results. With the increase of NT thickness, the detection rates of cardiac structural abnormalities and chromosomal abnormalities all showed a linear increasing trend. The sensitivity of the NT ≥2.5 mm group was as high as 63.64%, and the ductus venosus α wave (DVα) reverse specificity, and the positive likelihood ratio was 99.57% and 53.41%, respectively. The sensitivity of the 3 indicators combined was 66.67%, which was higher than that of any single index, and the area under the receiver operating characteristic (ROC) curve of these 3 indicators combined was the largest (AUC: 0.86). 4. Seventy patients in total were examined by combined TVUS. There is no statistical difference between the two.ConclusionsA positive linear correlation was found between NT thickness and the detection rate of fetal cardiac structural abnormality and chromosome abnormality. Early pregnancy NT screening combined with TV blood flow spectrum and DV blood spectrum screenings has high specificity and sensitivity in the diagnosis of CHD. Combined transabdominal and TVUS in early pregnancy can reduce the rates of misdiagnosis and missed diagnosis of fetal CHD.

Project description:ObjectiveTo assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT.Materials and methods25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome.ResultsA total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1.15%) were detected, there were 96 true positive samples, 117 false positive samples and 81 cases were refused further diagnosis. Samples with high risk of autosomal aneuploidy were detected in 71 cases (0.28%), and 51 cases were confirmed, including: trisomy 21 (T21) in 44 cases, trisomy 18 (T18) in 5 cases, and trisomy 13 (T13) in 2 cases; the positive predictive value (PPV) was 91.67%, 45.45%, and 33.33%, respectively, and the negative predictive value was 100%, the false positive rate (FPR) was 0.02%, 0.02%, and 0.02%, respectively.13 samples with high risk of mosaic trisomies 21, 18, and 13 were detected, and 1 case of T21mos was confirmed with a PPV of 8.33%. Samples with high risk of SCA were detected in 72 cases (0.28%), and the diagnosis was confirmed in 23 cases, with a PPV of 41.07% and a FPR of 0.13%. These included 3 cases of 45,X, 6 cases of 47,XXY, 8 cases of 47,XXX and 6 cases of 47,XYY, with PPVs of 12.00%, 50.00%, 72.73%, and 75.00%, respectively, and false-positive rates of 0.09%, 0.02%, 0.01% and 0.01% respectively. Samples with high risk of CNV were detected in 104 cases (0.41%) and confirmed in 18 cases, with a PPV of 32.14% and a FPR of 0.15%. Samples with high risk of other chromosomal aneuploidy were detected in 34 cases (0.13%), and the diagnosis was confirmed in 3 cases, which were T2, T9, and T16 respectively. The overall PPV for other chromosome aneuploidy was 12.50%, with a FPR of 0.08%.ConclusionNIPT is indicated for trisomies 21, 18 and 13 screening, especially for T21. It also has some certain reference value for SCA and CNV, but is not recommended for screening of other chromosomal aneuploidy.

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Application value of NIPT for uncommon fetal chromosomal abnormalities.

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Application value of NIPT for uncommon fetal chromosomal abnormalities.

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