Non Invasive Prenatal Testing (nipt) - Genetic Mutations

Relevant Publications

Non-invasive prenatal testing of beta-hemoglobinopathies using next generation sequencing, in-silico sequence size selection, and haplotyping.

Issue Release: 2024

[Genetic analysis of a fetus with with 45,X/46,X,idic(Y)(q11.2) mosaicism].

Issue Release: 2024

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.

Issue Release: 2024

Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies.

Issue Release: 2024

Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value.

Issue Release: 2024

Non-invasive prediction of preeclampsia using the maternal plasma cell-free DNA profile and clinical risk factors.

Issue Release: 2024

The Association between Low Fetal Fraction of Non-Invasive Prenatal Testing and Adverse Pregnancy Outcomes for Placental Compromise.

Issue Release: 2024

[Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS].

Issue Release: 2024

Use of the MS-MLPA assay in prenatal diagnosis of Prader-Willi syndrome with mosaic trisomy 15.

Issue Release: 2024

Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.

Issue Release: 2024

Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France.

Issue Release: 2024

Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non-invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7-year experience.

Issue Release: 2024

The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.

Issue Release: 2024

Should the scope of NIPT be limited by a \'threshold of seriousness\'?

Issue Release: 2024

Implementing non-invasive prenatal testing in a national screening program: Lessons learned from the TRIDENT studies.

Issue Release: 2024

Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China.

Issue Release: 2024

[Clinical application of non-invasive prenatal testing for twin pregnancies].

Issue Release: 2024

Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes.

Issue Release: 2024

False positive non-invasive prenatal testing (NIPT) for trisomy 12 in a pregnancy associated with a favorable fetal outcome and normal hemogram in the pregnant woman.

Issue Release: 2024

Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study.

Issue Release: 2024

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Non Invasive Prenatal Testing (nipt) - Genetic Mutations

Relevant Publications

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