Prenatal diagnostic method

Аннотация

Prenatal diagnostic methods are becoming very popular these days. This method is based on the early detection of pregnancy- related problems, including potential genetic diseases. Prenatal diagnosis identifies all problems before birth, anatomical and physiological problems related to the health of the zygote, embryo or fetus. Prenatal diagnosis refers to the testing and evaluation of a fetus before birth to detect genetic, chromosomal, structural, or metabolic disorders. It helps in early identification of potential health issues, allowing for informed decision-making and possible interventions. Keywords: Prenatal, scrining, amniotic liquid, ultrasound. Introduction: Ethical and Psychological Considerations: 2.Invasive Techniques Prenatal diagnosis raises ethical concerns, particularly -Chorionic Villus Sampling (CVS) (10–13 weeks): Biopsy regarding pregnancy termination, potential anxiety for of placental tissue to diagnose genetic conditions. parents, and the right to know versus not know. -Amniocentesis (15–20 weeks): Extraction of amniotic Genetic counseling is essential for informed decision- fluid for genetic and chromosomal analysis. making. -Percutaneous Umbilical Blood Sampling (PUBS): Direct Indications for Prenatal Diagnosis-Advanced maternal sampling of fetal blood from the umbilical cord to age (≥35 years) diagnose blood disorders and infections. -Family history of genetic disorders Ultrasound Findings and Interpretation: Ultrasound is -Previous child with a congenital anomaly the most commonly used non-invasive prenatal -Abnormal ultrasound findings diagnostic tool. It helps in: First-Trimester Ultrasound (6–13 weeks): Confirms pregnancy and gestational age, -Carrier status of genetic diseases (e.g., thalassemia, Detects multiple pregnancies (twins, triplets, etc.). cystic fibrosis) Identifies major structural defects (e.g., Types of Prenatal Diagnosis anencephaly),Nuchal translucency (NT) scan (11–13 1.Non-Invasive Techniques weeks): Measures fluid at the back of the fetal neck. -Ultrasound (USG): Used to detect structural Increased thickness suggests Down syndrome (Trisomy abnormalities, fetal growth, and placental position. 21) or congenital heart defects -Maternal Serum Screening: Measures specific proteins Second-Trimester Ultrasound (18–22 weeks): Anomaly and hormones in maternal blood to assess the risk of scan (Level II scan): Detects congenital malformations chromosomal disorders (e.g., Down syndrome). (e.g., cleft lip, heart defects, neural tube defects like spina bifida). Evaluates placental position (e.g., -Cell-Free Fetal DNA Testing (NIPT): Analyzes fetal DNA placenta previa) and amniotic fluid levels. in maternal blood to screen for chromosomal abnormalities like trisomy 21, 18, and 13. Third-Trimester Ultrasound (28+ weeks): Monitors fetal International Journal of Medical Sciences And Clinical Research 22 https://theusajournals.com/index.php/ijmscr International Journal of Medical Sciences And Clinical Research (ISSN: 2771-2265) growth restriction (IUGR).Assesses fetal well-being equipment. We know that different populations live in (Doppler studies, biophysical profile) all countries of the world. If we could widely use prenatal diagnosis in all populations, we would be able In Uzbekistan Case Study: Prenatal Diagnosis of Aicardi to prevent hereditary diseases and gene disorders that and Andermann Syndromes: At the Republican Center are likely to be observed in future generations. "Screening and the Child" in Uzbekistan, a retrospective analysis was conducted on 21 pregnant women whose REFERENCES fetuses were diagnosed with agenesis of the corpus S. Ramakrishnan, S. Partricia, and G. Mathan, callosum. The study aimed to facilitate the early “Overview of high-risk HPV’s 16 and 18 infected diagnosis of rare conditions such as Aicardi and cervical cancer: Pathogenesis to prevention,” Biomed. Andermann syndromes through comprehensive Pharmacother., vol. 70, no. C, pp. 103–110, 2015, doi: dynamic examinations, including ultrasound and 10.1016/j.biopha.2014.12.041. laboratory studies. This approach highlighted the A. Sagan, D. Mcdaid, S. Rajan, J. Farrington, and M. significance of detailed prenatal assessments in Mckee, “Policy Brief Screening,” World Heal. Organ., detecting rare congenital anomalies. Aicardi syndrome 2020, [Online]. Available: and Andermann syndrome are rare genetic disorders, http://www.euro.who.int/en/about-us/partners/ with Aicardi syndrome characterized by a specific triad of symptoms (chorioretinal lacunae, infantile spasms, H. Ahmadzadeh Sarhangi, D. Beigifard, E. Farmani, and and agenesis of the corpus callosum), while H. Bolhasani, “Deep learning techniques for cervical Andermann syndrome is associated with congenital cancer diagnosis based on pathology and colposcopy heart defects, kidney anomalies, and diaphragmatic images,” Informatics Med. Unlocked, vol. 47, no. hernia. March, p. 101503, 2024, doi: 10.1016/j.imu.2024.101503. In India Case Study 1: Pre