Seminars in Fetal and Neonatal Medicine, Journal Year: 2024, Volume and Issue: unknown, P. 101551 - 101551
Published: Nov. 1, 2024
Language: Английский
Biomolecules, Journal Year: 2025, Volume and Issue: 15(3), P. 360 - 360
Published: March 1, 2025
This article reviews the current applications of digital polymerase chain reaction (dPCR) in non-invasive prenatal testing (NIPT) and explores its potential to complement or surpass capabilities Next-Generation Sequencing (NGS) testing. The growing incidence genetic disorders maternal–fetal medicine has intensified demand for precise accessible NIPT options, which aim minimize need invasive diagnostic procedures. Cell-free fetal DNA (cffDNA), core analyte NIPT, is influenced by numerous factors such as maternal contamination, placental health, fragment degradation. dPCR, with inherent precision ability detect low-abundance targets, demonstrates robustness against these interferences. Although NGS remains gold standard due comprehensive capabilities, high costs limit widespread use, particularly resource-limited settings. In contrast, dPCR provides comparable accuracy lower complexity expense, making it a promising alternative
Language: Английский
Citations
1
Prenatal Diagnosis, Journal Year: 2024, Volume and Issue: 44(5), P. 562 - 571
Published: March 23, 2024
To evaluate cell-free non-invasive prenatal testing (cfNIPT) in pregnancies affected by mosaicism.
Language: Английский
Citations
5
Genes, Journal Year: 2025, Volume and Issue: 16(2), P. 134 - 134
Published: Jan. 24, 2025
Trophectoderm (TE) biopsy is at present the most widely used procedure for preimplantation genetic testing (PGT). At blastocyst stage, more TE cells (five to seven) can be obtained analysis. While removing and not touching inner cell mass (ICM), less invasive. Due a natural selection happening between day 3 5, 6 or 7 of human embryo development, fewer embryos will have biopsied tested. An additional benefit, especially in view aneuploidy (PGT-A), lower level mosaicism stage. The involves two steps: laser-assisted zona pellucida (ZP) opening excision five eight from with without laser energy. Different protocols emerged over time variations regarding technique, exact moment ZP opening, method removal. ‘pulling’ excision, whereas ‘flicking’ represents mechanical approach assistance. Embryo developmental speed reaching full/expanded hatching/hatched stage dictates timing procedure, mostly on 5 post-insemination, lesser extent even 7. inclusion quality delayed blastocysts may impact sample as well clinical outcome. Intracytoplasmic sperm injection (ICSI) still preferred fertilization PGT-M (monogenic disorders) PGT-SR (structural rearrangements). However, conventional vitro (IVF) seems feasible PGT-A (aneuploidy testing). In absence (conclusive) result, re-biopsy cryopreserved possible, however, reduced outcomes. So far, neonatal outcome post-TE has so far been reassuringly documented.
Language: Английский
Citations
0
European Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 20, 2025
Language: Английский
Citations
0
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 27, 2025
Resumen Introducción El ADN libre circulante (ADN-lc) son fragmentos de extracelulares que circulan libremente por la sangre y se originan a partir apoptosis diversos tipos celulares, como ejemplo células hematopoyéticas o, en gestaciones, trofoblásticas provenientes placenta. Contenido estudio del ADN-lc ha incluido prueba cribado prenatal para detección anomalías cromosómicas y, diferencia otras técnicas invasivas amniocentesis o biopsia vellosidades coriónicas, realiza mediante un análisis materna. Gracias utilización tecnologías avanzadas el ADN-lc, secuenciación los arrays SNPs, es posible identificar gestaciones con riesgo trisomía 21, 18 13. Este test demostrado una alta precisión fiabilidad, tasas superiores al 99 % 21 muy baja tasa falsos positivos negativos. En algunos países ya implementado herramienta combinado universal. Perspectiva A medida tecnología avanza vuelve más accesible, espera puedan obtener pruebas aún precisas genéticas diagnóstico prenatal.
Citations
0
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, Journal Year: 2025, Volume and Issue: unknown
Published: March 25, 2025
Abstract Introduction Circulating cell-free DNA (cfDNA) consists of extracellular fragments that circulate in the bloodstream and derived from apoptotic cells such as hematopoietic or placental trophoblast during pregnancy. Contents cfDNA screening has been included prenatal programs for detection chromosomal abnormalities. Unlike other invasive techniques, amniocentesis chorionic villus sampling, only requires a maternal plasma test. The use advanced technologies testing, including sequencing SNP arrays, enables pregnancies at risk trisomy 21, 18 13. Summary This test demonstrated high accuracy reliability, with rates exceeding 99 % very low rate false-positive false-negative results. In some countries, already integrated combined universal programs. Outlook As new emerge become widely available, more accurate tests will be developed genetic
Language: Английский
Citations
0
Molecular Cytogenetics, Journal Year: 2024, Volume and Issue: 17(1)
Published: April 16, 2024
Abstract Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing. Here, we describe clinical outcomes cases screened positive for trisomy following cell-free (cf.) DNA screening. These are part a larger cohort previously published cases. Members Global Expanded NIPT Consortium were invited submit details on their with single aneuploidy cfDNA screening retrospective analysis. Clinical including patient demographics, test indications, diagnostic testing, and obstetric pregnancy collected. Genome-wide was conducted site-specific laboratory procedures. Cases which ( n = 10) reviewed. outcome information available 90% (9/10) our screen-positive cases; case without testing ended fetal demise. Of nine information, found have mosaic partial duplication (duplication at 20p13), rather than full 20. Only study had placental testing; therefore, confined mosaicism could not ruled out Adverse seen half cases, suggest presence underlying or mosaic/full Based limited series, likelihood true is low but pregnancies may increased risk adverse benefit from additional surveillance.
Language: Английский
Citations
2
American Journal of Obstetrics & Gynecology MFM, Journal Year: 2024, Volume and Issue: unknown, P. 101497 - 101497
Published: Sept. 1, 2024
Language: Английский
Citations
2
Journal of Personalized Medicine, Journal Year: 2024, Volume and Issue: 14(7), P. 774 - 774
Published: July 21, 2024
Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course pregnancy is going take. Although offering certainty potential evolution prognosis of pregnancy, then newborn, usually not possible, counseling can offer valuable insights into disorders. Chromosomal mosaicisms are anomalies that affect only some cell lines in either fetus or placenta both. They autosomal heterosomal chromosomes, they be numerical structural. The seems more severe if alterations accompanied by malformations visible ultrasounds. Several techniques used diagnose certain mosaicisms, depending on nature. A novel approach prenatal care non-invasive (NIPS), also known as (NIPT), which, although it does always have diagnostic value, provide information anomalies, especially numerical, with high sensitivity (Se).
Language: Английский
Citations
2
Placenta, Journal Year: 2024, Volume and Issue: 154, P. 60 - 65
Published: June 15, 2024
Non-invasive prenatal testing (NIPT) investigates placental DNA and may detect confined mosaicism (CPM). The aim of this study was to confirm CPM in the term placenta cases with abnormal NIPT but normal follow-up cytogenetic studies fetus mother. Additionally we examined distribution cells over placenta.
Language: Английский
Citations
1