The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India

• Published in: Curēus (Palo Alto, CA) Vol. 16; no. 4; p. e59241
• Main Authors: Upadhyay, Maneesha, Singh, Nitish K, Ashish, Ashish, Upadhyay, Meenakshi, Singh, Ankur, Singh, Royana
• Format: Journal Article
• Language: English
• Published: United States Cureus Inc 28.04.2024; Cureus
• Subjects: Age; Birth order; Birth weight; Births; Chromosomes; Cross-sectional studies; Down syndrome; Ethics; Females; Genetics; Pediatrics; Pilot projects; Polymerase chain reaction; Public Health; Sample size; Sociodemographics; Uttar Pradesh India; India; qf-pcr; str; down syndrome; karyotype; marker
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.59241

Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual disability in individuals. The diagnostic process for DS often involves conventional karyotyping, which can be time-consuming. Trisomy 21 and other chromosomal abnormalities may now be quickly and accurately diagnosed using quantitative fluorescence polymerase chain reaction (QF-PCR). In light of this, this study aimed to investigate chromosomal abnormalities in DS using conventional karyotyping and QF-PCR among the population in eastern Uttar Pradesh, India. Methods Blood samples from 40 individuals with clinically diagnosed DS were collected. Conventional karyotyping involved standard cytogenetic techniques, while QF-PCR utilized DNA extraction and analysis with chromosome-specific short tandem repeat (STR) markers. Results Various distinct physical characteristics were observed in the DS individuals, such as mongoloid slant and low-set ears. Karyotyping and QF-PCR analyses revealed different chromosomal configurations associated with DS trisomy 21, with additional chromosomal abnormalities found in some individuals, including partial monosomy 18 and mosaic trisomy 21. However, in a few cases, neither karyotyping nor QF-PCR revealed any abnormalities. Conclusions The study demonstrated that QF-PCR is a reliable and rapid method for diagnosing DS, providing results within 24 hours. This approach allows for the simultaneous diagnosis of a large number of samples and reduces the time required to obtain results. In the diagnostic procedure for DS, we believe QF-PCR will prove to be a useful tool. Furthermore, therapeutic interventions based on their clinical traits and molecular karyotyping can enhance the quality of life of people with DS.