Parental Karyotyping in Recurrent pregnancy loss in tertiary care hospital

Abstract

Introduction: Recurrent pregnancy loss is a devastating outcome for patients and their clinicians and it continues to be clinical dilemma. Aims  and objectives 1.To know the role of chromosomal abnormalities and cytogenetic evaluation in the couples with RPL and to determine the prevalence and types of chromosomal anomalies in couples with RPL. Materials and methods: The couples with recurrent first trimester abortions visiting the Department of OBG King George Hospital ,Vishakhapatnam. It is Hospital based observational study for one year from December 2020 to November 2021. In this study detailed clinical evaluation, laboratory investigations and cytogenetic analysis were done. Inclusion criteria: Couples with prior history of two or more abortions and age between 18 -35 years. Exclusion criteria Couples with recurrent second and third trimester loses, congenital female genital tract abnormalities and couples who have not given consent. Methodology :At enrollment, after informed consent is taken, information on demographic characteristics, any medical history , family history and clinical data are collected along with a three generation pedigree and recorded as per proforma .All couples are subjected to basic laboratory investigations.After basic clinical and laboratory work up , couples are subjected to cytogenetic analysis.A Peripheral blood sample of about 3 ml is collected and lymphocytes are cultured in presence of a mitogen.After an optimum time of culture mitotic inhibitor colchicine is added to the culture and mitosis is arrested in metaphase as colchicine block the formation of spindle fibres. Peripheral blood lymphocyte cultures are set up according to modified method of Moorhead et al for detection of karyotyping abnormalities using G banding.
Results : Primary RPL is more common than secondary RPL. The majority belonging to age group 21 to 25 and the majority of males belonging to the age group of 26 to 30 yrs. 42.9% of the couples had a total of 3 abortions. Most common chromosomal anomaly detected were Balanced reciprocal translocations detected in 3 cases(42.8%) and 2 were in females and 1 was in male .Robertsonian translocations were detected in 2 cases(28.57%) , one in male and one in female. Chromosomal inversion was detected in one female (14.2%) and Mosaicism was in 1 female (14.2%).
CONCLUSION Recurrent pregnancy loss is a challenging problem for Obstetricians. Cytogenetic analysis is an essential investigation for couples, in whom genetic counseling and proper management can be planned accurately.