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Case Reports
. 2019 Dec 21:12:53.
doi: 10.1186/s13039-019-0464-y. eCollection 2019.

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Ganye Zhao  1 , Peng Dai  1 , Shanshan Gao  1 , Xuechao Zhao  1 , Conghui Wang  1 , Lina Liu  1 , Xiangdong Kong  1
Affiliations
Case Reports

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Ganye Zhao et al. Mol Cytogenet. .

Abstract

Background: Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, the segmental deletions and duplications should also be concerned. Except that some cases had increased nuchal translucency or holoprosencephaly, most of the fetal phenotype of 18p deletion syndrome may not be evident during the pregnancy, 18p deletion syndrome was always accidentally discovered during the prenatal examination.

Case presentations: In our case, we found a pure partial monosomy 18p deletion during the confirmation of the result of NIPT by copy number variation sequencing (CNV-Seq). The result of NIPT suggested that there was a partial or complete deletion of X chromosome. The amniotic fluid karyotype was normal, but result of CNV-Seq indicated a 7.56 Mb deletion on the short arm of chromosome 18 but not in the couple, which means the deletion was de novo deletion. Finally, the parents chose to terminate the pregnancy.

Conclusions: To our knowledge, this is the first case of prenatal diagnosis of 18p deletion syndrome following NIPT.NIPT combined with ultrasound may be a relatively efficient method to screen chromosome microdeletions especially for the 18p deletion syndrome.

Keywords: 18p deletion syndrome; CNV-seq; Karyotype; NIPT; Prenatal diagnosis.

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Conflict of interest statement

Competing interestsThe authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Karyotype analysis of maternal amniotic fluid showing no significant fetal chromosomal abnormalities (46, XX)
Fig. 2
Fig. 2
Copy number variation of maternal amniotic fluid showing that a deletion of 7.56 Mb on chromosome 18p p11.32p11.23(seq[hg19]18 p11.32p11.23 (120000–7,680,000) × 1)
Fig. 3
Fig. 3
Copy number variation of the fetus’s mother was normal
Fig. 4
Fig. 4
Copy number variation of the fetus’s father was normal
See this image and copyright information in PMC

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