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In Utero Genetic Screening and Diagnosis

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In Utero Pediatrics


Many countries and regions carry out prenatal screening for certain fatal and disabling serious genetic diseases with high incidence. Prenatal genetic screening is beneficial to the development of genetic counseling and prenatal diagnosis of genetic diseases. This section will focus on noninvasive prenatal screening based on high-throughput sequencing technology. Noninvasive prenatal testing (NIPT), based on cell-free fetal DNA (cffDNA) in maternal peripheral plasma, uses maternal peripheral blood as a sample to determine the extent to which the fetus is likely to have certain genetic diseases through high-throughput sequencing and bioinformatics analysis. NIPT was initially performed only for fetal trisomy 21. Later, it is extended to common aneuploidies, such as trisomy 18 and trisomy 13. Subsequently, the targets of NIPT screening are gradually extended to all aneuploidies and chromosomal structural abnormalities of the fetus thanks to the development of technology and the improvement of detection resolution. Currently, there are three sources of cffDNA: apoptosis of placental syncytiotrophoblast cells, which is the main source; apoptosis of fetal hematopoietic cells entering the maternal circulation; and direct transfer of fetal DNA molecules into maternal plasma through the placenta. cffDNA level from the placenta increases with the progression of pregnancy and the degree of placental apoptosis. cffDNA, as it is released by apoptotic cells, also has the characteristics of apoptotic cells, that is, fragmentation of genomic DNA. More than 99% of fetal DNA fragments are below 313 bp in length. For pregnant women in the first trimester, cffDNA can be detected in the peripheral blood, accounting for up to 20% of the total free DNA in maternal plasma. NIPT is generally performed after 12 weeks of gestation. In addition, cffDNA is rapidly degraded after birth and is not affected by the previous fetus.

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  1. Chen CP, Devriendt K, Chern SR, et al. Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat Diagn. 2000;20(5):384–9.

    Google Scholar 

  2. Faivre L, Radford I, Viot G, et al. Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q. Ann Genet. 2000;43(1):35–8.

    Google Scholar 

  3. Williams CA. Neurological aspects of the Angelman syndrome. Brain and Development. 2005;27(2):88–94.

    Article  PubMed  Google Scholar 

  4. Williams CA, Beaudet AL, Clayton-Smith J, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006;140(5):413–8.

    Article  PubMed  Google Scholar 

  5. Tan WH, Bacino CA, Skinner SA, et al. Angelman syndrome: mutations influence features in early childhood. Am J Med Genet A. 2011;155(1):81–90.

    Article  Google Scholar 

  6. Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet. 1997;17(1):12–3.

    Article  CAS  PubMed  Google Scholar 

  7. Albrecht U, Sutcliffe JS, Cattanach BM, et al. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet. 1997;17(1):75–8.

    Article  CAS  PubMed  Google Scholar 

  8. Buiting K, Clayton-Smith J, Driscoll DJ, et al. Clinical utility gene card for: Angelman Syndrome. Eur J Hum Genet. 2015;23(2):93.

    Article  Google Scholar 

  9. Beygo J, Buiting K, Ramsden SC, et al. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes. Eur J Hum Genet. 2019;27(9):1326–40.

    Article  PubMed  PubMed Central  Google Scholar 

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Correspondence to Yong-Guo Yu .

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Xiao, B., Luo, XM., Yu, YG. (2023). In Utero Genetic Screening and Diagnosis. In: Sun, K. (eds) In Utero Pediatrics. Springer, Singapore.

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