Question

A 35-year-old woman presents to the emergency department with heavy vaginal bleeding at seven weeks gestation. On examination, she has a dilated cervix with blood and tissue present at the cervical os. Which of the following is the most likely chromosomal abnormality to be found in the karyotypic evaluation of the products of conception?

1) Autosomal trisomy
2) Triploidy
3) Tetraploidy
4) Monosomy X (45X,0)
5) Fragile X mutation

Answer 1

The most likely chromosomal abnormality in the products of conception for a 35-year-old woman with heavy vaginal bleeding at seven weeks gestation is autosomal trisomy, which is the presence of an extra autosome in the cell.

Step-by-step explanation:

The presentation of heavy vaginal bleeding and a dilated cervix with blood and tissue at the cervical os at seven weeks gestation may be indicative of a spontaneous abortion, commonly called miscarriage. A karyotypic evaluation of the products of conception in such cases often reveals chromosomal abnormalities. The most common chromosomal abnormality found in first trimester miscarriages is autosomal trisomy, which is an extra autosome in the cell. Monosomy X (45,X), or Turner Syndrome, is another possible finding but is less common than autosomal trisomy in miscarriages. Other potential findings could include triploidy, which is the presence of an entire extra set of chromosomes, or tetraploidy, which denotes four complete sets of chromosomes. Fragile X mutation, although a genetic disorder, it is not typically associated with miscarriages.