Table 1 Considerations with regard to discordant sex-chromosome results

From: Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results

Questions to ask the pregnant woman

Diagnostic considerations

Are you over 35 years old?

Somatic loss of X chromosome due to aging

Have you ever received a transplant of any kind?

Bone-marrow or organ source of Y-chromosomal DNA

Are you significantly shorter or taller than your parents and/or same sex siblings?

Full or partial sex-chromosome aneuploidy (45, X or 47, XXX)

Did you conceive via assisted reproductive technology?

If yes, was a reason determined for your infertility?

Sex chromosome aneuploidy, X deletion

Has a karyotype ever been performed on you?

Sex-chromosome aneuploidy, X deletion

Did you need egg donation to become pregnant?

Disorder of sexual differentiation (e.g., Swyer syndrome)

Back to article page