scholarly journals Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis

2014 ◽  
Vol 11 (4) ◽  
pp. 233-241 ◽  
Author(s):  
Tuba Günel ◽  
Mohammad Kazem Hosseini ◽  
Ece Gümüşoğlu ◽  
Görkem Zeybek ◽  
İsmail Dölekçap ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Diagnosis ◽  
Non Invasive

scholarly journals Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein

2021 ◽  
Vol 22 (4) ◽  
pp. 2001
Author(s):  
Silvia Spena ◽  
Chiara Cordiglieri ◽  
Isabella Garagiola ◽  
Flora Peyvandi
Keyword(s):  
Monoclonal Antibody ◽  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Limiting Factors ◽  
Inherited Disease ◽  
Specific Monoclonal Antibody ◽  
Native Form ◽  
Fetal Cells ◽  
Non Invasive ◽  
Reliable Isolation

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia.

Non-invasive approach to prenatal diagnosis from maternal peripheral blood

1992 ◽  
Vol 12 (6) ◽  
pp. 547-548 ◽  
Author(s):  
Y.-M. D. Lo ◽  
J. S. Wainscoat ◽  
K. A. Fleming
Keyword(s):  
Prenatal Diagnosis ◽  
Peripheral Blood ◽  
Invasive Approach ◽  
Non Invasive ◽  
Maternal Peripheral Blood

Prenatal Diagnosis of Vascular Ring: Evaluation of Fetal Diagnosis and Postnatal Outcomes

2021 ◽  
Author(s):  
Safwat Aly ◽  
Koyelle Papneja ◽  
Wadi Mawad ◽  
Mike Seed ◽  
Edgar Jaeggi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Vascular Ring ◽  
Fetal Diagnosis

scholarly journals Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

2016 ◽  
Vol 36 (4) ◽  
pp. 312-320 ◽  
Author(s):  
Michael Parks ◽  
Samantha Court ◽  
Siobhan Cleary ◽  
Samuel Clokie ◽  
Julie Hewitt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophies ◽  
Non Invasive

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

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