Genetic Analysis of Recurrent Pregnancy Loss: Role of Karyotyping in Understanding Pathogenesis and Management

The chromosomal abnormalities (TS) also exhibit gonadal dysgenesis, which causes delayed puberty or failure, infertility, and premature ovarian failure (POF) in the majority of cases. 6RPL may be the result of fetal chromosomal trisomy in chromosome numbers 13, 18, 21, X, and Y, which are mostly identified and noted to be high with advanced maternal age. 7These chromosomal anomalies are not typically inherited from the parents; instead, they develop sporadically. 8There are many other factors that play an important role in recurrent miscarriage, such as advanced maternal age, cervical incompetence, placental abruption, maternal and paternal chromosomal abnormalities, and fetal aneuploidy. 9The major genetic factors are (1) structural and numerical chromosomal abnormalities, (2) inflammatory and autoimmune dysfunction, and IntroductIonRecurrent pregnancy loss (RPL) is characterized by the consecutive loss of two or more biochemically confirmed pregnancies before the 22-24 weeks of the gestational period. 1 Various factors can contribute to RPL, encompassing genetic abnormalities in the developing embryo, uterine structural irregularities, hormonal imbalances, autoimmune disorders, blood clotting disorders, infections, and specific medical conditions like polycystic ovary syndrome (PCOS) and raised blood sugar.Diagnostic procedures may involve a comprehensive review and collection of medical history, physical and biochemical examinations, hormonal assessment and identification of autoimmune or clotting disorders, detection of chromosomal abnormalities, imaging studies such as ultrasonography (USG) and hysterosalpingogram (HSG), as well as uterine cavity evaluation commonly by laparoscopic hysteroscopy. 2If hormonal imbalances are suspected, clinicians mostly recommend hormone supplementation such as progesterone during the early stages of pregnancy to maintain implantation in the first trimester of pregnancy. 3RPL may be classified into two different categories: primary RPL, which is when two or more pregnancies are lost in the early stage of pregnancy (20-24 weeks) without any live issue, and secondary RPL, when there is a single live issue followed by two or more pregnancy losses. 4 higher prevalence of mosaicism of X-chromosome aneuploidies has been found in individuals who had a previous history of RPL.In addition to the typical clinical characteristics of short stature, web neck, and cardiovascular and renal abnormalities, patients with classical Turner's syndrome experience more pregnancy losses in the early stage of pregnancy (20-24 weeks) without any live issues.