J Genet Med.  2021 Dec;18(2):117-120. 10.5734/JGM.2021.18.2.117.

Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

• Kim BR
• Kim R
• Cho A
• Kang HS
• Park CM
• Kim SY
• Shim SS

• KMID: 2524737
• DOI: http://doi.org/10.5734/JGM.2021.18.2.117

Abstract

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

Keyword

Xq deletion; Prenatal diagnosis; Noninvasive prenatal screening; Amniocentesis