Biomaterial Database

Reproductive outcomes in individuals with chromosomal reciprocal translocations. 2021

Angela Verdoni, and Jie Hu, and Urvashi Surti, and Melanie Babcock, and Elizabeth Sheehan, and Michele Clemens, and Sarah Drewes, and Leslie Walsh, and Rebecca Clark, and Sunita Katari, and Joe Sanfilippo, and Devereux N Saller, and Aleksandar Rajkovic, and Svetlana A Yatsenko

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.

Patients with reciprocal balanced translocations (RBT) have a risk for recurrent pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based on karyotypes found among the products of conception (POC), although factors influencing the success of assisted reproductive technologies (ART) in RBT couples are not established. Cytogenetic results from 261 POC and offspring of the parents (113 women and 90 men) with RBT were evaluated. Chromosome segregation modes and number of euploid embryos were assessed in couples undergoing in vitro fertilization. Patients with translocations involving an acrocentric chromosome have a higher risk of unbalanced gametes caused by a 3:1 segregation. Female RBT patients have a statistically higher risk of aneuploidy due to an interchromosomal effect. The rate of euploid embryos is low due to meiosis I malsegregation of RBT, meiosis II nondisjunction, additional whole chromosome or segmental aneusomies. RBT patients with RPL have a higher rate of miscarriage of euploid fetuses with RBT. Chromosome-specific factors, female gender, age, and history of RPL are the risk elements influencing pregnancy and in vitro fertilization success in RBT patients. Chromosomal microarray analysis of POC is necessary to provide an accurate and timely diagnosis for patients with adverse reproductive outcomes.

UI	MeSH Term	Description	Entries
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D005260	Female		Females
D005307	Fertilization in Vitro	An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro.	Test-Tube Fertilization,Fertilizations in Vitro,In Vitro Fertilization,Test-Tube Babies,Babies, Test-Tube,Baby, Test-Tube,Fertilization, Test-Tube,Fertilizations, Test-Tube,In Vitro Fertilizations,Test Tube Babies,Test Tube Fertilization,Test-Tube Baby,Test-Tube Fertilizations
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000026	Abortion, Habitual	Three or more consecutive spontaneous abortions.	Abortion, Recurrent,Miscarriage, Recurrent,Recurrent Early Pregnancy Loss,Habitual Abortion,Habitual Abortions,Recurrent Abortion,Recurrent Abortions,Recurrent Miscarriage,Recurrent Miscarriages
D000782	Aneuploidy	The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).	Aneuploid,Aneuploid Cell,Aneuploid Cells,Aneuploidies,Aneuploids,Cell, Aneuploid,Cells, Aneuploid
D014178	Translocation, Genetic	A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.	Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D019836	Preimplantation Diagnosis	Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.	Diagnosis, Preimplantation,Preimplantation Genetic Diagnosis,Diagnosis, Preimplantation Genetic,Preimplantation Screening,Diagnoses, Preimplantation,Diagnoses, Preimplantation Genetic,Genetic Diagnoses, Preimplantation,Genetic Diagnosis, Preimplantation,Preimplantation Diagnoses,Preimplantation Genetic Diagnoses,Preimplantation Screenings,Screening, Preimplantation,Screenings, Preimplantation