J Genet Med.  2015 Dec;12(2):118-122. 10.5734/JGM.2015.12.2.118.

Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

• Kim JH
• Lee GH
• Cha DH
• Cho EH
• Jung YW

• KMID: 2149855
• DOI: http://doi.org/10.5734/JGM.2015.12.2.118

Abstract

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

Keyword

High-throughput nucleotide sequencing; Prenatal diagnosis; Turner syndrome; Sex chromosome aberrations; Mosaicism

MeSH Terms

Aneuploidy
Counseling
Diagnosis
DNA
Down Syndrome
Female
Fetus
Genome
High-Throughput Nucleotide Sequencing
Humans
Korea
Mass Screening
Mosaicism*
Plasma
Pregnancy*
Pregnancy, Multiple
Prenatal Diagnosis
Sex Chromosome Aberrations
Trisomy
Turner Syndrome*
DNA