In the context of recurrent pregnancy loss, which genetic testing considerations are commonly evaluated?

• A. Maternal serum screening only
• B. Parental karyotyping to detect balanced rearrangements; embryo screening for aneuploidy; evaluation of uterine factors
• C. Paternal age assessment only
• D. No genetics considered

Answer: (B)

In recurrent pregnancy loss, testing targets genetic contributions from both the parents, the embryos, and the uterus. Parental karyotyping is done to detect balanced rearrangements that usually cause no problems for the parent but can produce unbalanced chromosomal sets in conceptions, leading to miscarriage. If a balanced rearrangement is found, genetic counseling helps explain recurrence risks and available reproductive options. Embryo screening for aneuploidy, such as preimplantation genetic testing for aneuploidy, assesses embryos for the correct number of chromosomes and helps select euploid embryos, which lowers the chance of another miscarriage due to aneuploidy. Evaluating uterine factors looks for structural issues like a septate uterus, intracavitary fibroids, or adhesions that can impair implantation or sustain a pregnancy, and these may be corrected to improve outcomes. Maternal serum screening and focusing on paternal age are not standard genetic testing approaches for evaluating recurrent pregnancy loss.