| Title |
Noninvasive prenatal testing in modern day pregnancy care / |
| Translation of Title |
Noninvasive Prenatal Testing in Modern Day Pregnancy Care. |
| Authors |
Momeni, Kiana Marie |
| Full Text |
|
| Pages |
29 |
| Keywords [eng] |
Prenatal diagnosis, Prenatal genetic testing, Cell-free DNA screening, Noninvasive prenatal testing, NIPT, Next-generation sequencing, Fetal fraction, Trisomy, fetal aneuploidies |
| Abstract [eng] |
BACKGROUND Literature review of noninvasive prenatal testing in modern-day pregnancy care for collecting information about methods, limitations and benefits of this technique. Noninvasive prenatal testing has been a significant breakthrough in prenatal diagnosis, as it provides important information about the unborn fetus without needing direct access into the uterus and thus reduces the small but significant risk of miscarriages and fetal injury. METHODS This Research Paper is a literature review written in English language and in a descriptive manner in which a variety of qualitative scientific sources were utilized as well as secondary sources in addition to some specific quantitative data. The literature research was concentrated on recent scientific sources in English language, which were not older than ten years. CONCLUSION Noninvasive prenatal testing is a promising approach as information about the unborn fetus can be gained by taking a simple blood test from the mother. This test should not just be available in high-risk pregnancies, but for all women who wish to find out more about their child without needing invasive testing, which is associated with minor risks for the fetus and the pregnancy. Even though some limitations currently exist, the benefits outweigh them and pave the way for improvements and further research in this field. KEYWORDS Prenatal diagnosis; Prenatal genetic testing; Cell-free DNA screening; Noninvasive prenatal testing; NIPT; Next-generation sequencing; Fetal fraction; Trisomy ABBREVIATIONS NIPT – Noninvasive prenatal testing cffDNA – cell-free fetal DNA cfDNA – cell-free DNA FF – Fetal fraction s-MPS – Shotgun Massively Parallel Sequencing t-MPS – Target Massively Parallel Sequencing SNP’s – Single nucleotide polymorphisms DR – Detection rate FPR – False positive rate cFTS – Combined first trimester screening. |
| Dissertation Institution |
Vilniaus universitetas. |
| Type |
Master thesis |
| Language |
English |
| Publication date |
2022 |
