Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome.
10.3760/cma.j.cn511374-20201016-00724
- Author:
Junyu WANG
1
;
Jianlong ZHUANG
;
Yuying JIANG
;
Wanyu FU
;
Yuanbai WANG
Author Information
1. Prenatal Diagnosis Center, Quanzhou Women and Children's Health Care Hospital, Quanzhou, Fujian 362000, China. wybslj@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Disorders/genetics*;
Chromosomes, Human, Pair 12/genetics*;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2021;38(10):997-1001
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC).
METHODS:Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay.
RESULTS:Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome.
CONCLUSION:NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.
