What diseases does a test tube chromosome test check for?

Jul 04, 2024 Source: Cainiu Health
Disease description:

When I went for a checkup during pregnancy and heard the doctor mention "test tube chromosomes," I became very curious. What diseases does the "test tube chromosome" test check for?

Doctor's answer (1)
Dr. Zhang Lu

Chromosome testing in test tubes is primarily used to examine whether an embryo has chromosomal abnormalities or genetic disorders. This test is particularly important in in vitro fertilization (IVF) and other assisted reproductive technologies, and includes two parts: chromosome testing for both the couple and the embryo.

1. Chromosome testing for the couple: This involves drawing peripheral blood to analyze the number and structure of chromosomes from both partners to detect abnormalities such as numerical chromosome disorders (e.g., trisomy 21, congenital testicular dysplasia syndrome) and structural chromosome disorders (e.g., Turner syndrome caused by deletion of the short arm of the X chromosome, congenital heart disease caused by chromosomal translocations).

2. Embryo chromosome testing: A small number of cells are taken from an in vitro fertilized embryo for chromosomal and genetic testing, to determine whether the embryo carries autosomal recessive or dominant genetic diseases or chromosomal numerical abnormalities. This test helps predict fetal gender, diagnose genetic disorders, and identify intersex conditions.