Cover Image

A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication

Objective: We present a false-positive result at non-invasive prenatal testing (NIPT) due to maternal 17p12 microduplication. Case report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of...

Full description

Saved in:

Bibliographic Details
Main Authors:	Chih-Ping Chen (Author), Shin-Wen Chen (Author), Peih-Shan Wu (Author), Fang-Tzu Wu (Author), Wayseen Wang (Author)
Format:	Book
Published:	Elsevier, 2022-05-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality
by: Chih-Ping Chen, et al.
Published: (2016)

Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound
by: Chih-Ping Chen, et al.
Published: (2021)

Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication
by: Chih-Ping Chen, et al.
Published: (2023)

Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion
by: Chih-Ping Chen, et al.
Published: (2024)

Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the male carriers in the family
by: Chih-Ping Chen, et al.
Published: (2023)

Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects
by: Chih-Ping Chen, et al.
Published: (2019)

Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result
by: Chih-Ping Chen, et al.
Published: (2022)

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
by: Meiying Cai, et al.
Published: (2022)

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly
by: Chih-Ping Chen, et al.
Published: (2011)

Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2020)

Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series
by: Chun-Xiang Zhou, et al.
Published: (2021)

Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects
by: Chih-Ping Chen, et al.
Published: (2019)

Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound
by: Chih-Ping Chen, et al.
Published: (2024)

False positive non-invasive prenatal testing (NIPT) for trisomy 12 in a pregnancy associated with a favorable fetal outcome and normal hemogram in the pregnant woman
by: Chih-Ping Chen
Published: (2024)

Prenatal diagnosis of mosaicism for trisomy 17 in a single colony at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2022)

Prenatal diagnosis of familial 2p13.1-p12 microduplication in a pregnancy associated with asymptomatic carrier parent
by: Chih-Ping Chen
Published: (2024)

Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2022)

Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line
by: Chih-Ping Chen, et al.
Published: (2023)

Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion
by: Chih-Ping Chen, et al.
Published: (2023)

Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2024)

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
by: Chih-Ping Chen, et al.
Published: (2024)

Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier
by: Chih-Ping Chen, et al.
Published: (2021)

Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound
by: Chih-Ping Chen, et al.
Published: (2020)

False negative non-invasive prenatal testing (NIPT) result for trisomy 7 and false positive NIPT result for trisomy 2 in a pregnancy associated with low-level mosaic trisomy 7 at amniocentesis and a favorable outcome
by: Chih-Ping Chen
Published: (2024)

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1
by: Chih-Ping Chen, et al.
Published: (2022)

False positive non-invasive prenatal testing (NIPT) for trisomy 21 in vanishing twin syndrome pregnancy: A comparison of the NIPT results performed in different gestations
by: Chih-Ping Chen
Published: (2023)

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder
by: Chih-Ping Chen, et al.
Published: (2017)

Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling and literature review
by: Chih-Ping Chen, et al.
Published: (2019)

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat
by: Chih-Ping Chen, et al.
Published: (2024)

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother
by: Chih-Ping Chen, et al.
Published: (2021)

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia
by: Chih-Ping Chen, et al.
Published: (2020)

Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome
by: Chih-Ping Chen, et al.
Published: (2024)

Prenatal diagnosis of low-level mosaicism for trisomy 12 associated with a favorable pregnancy outcome
by: Chih-Ping Chen, et al.
Published: (2016)

Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1
by: Chih-Ping Chen, et al.
Published: (2017)

Prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis in a pregnancy with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2020)

Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion
by: Chih-Ping Chen, et al.
Published: (2011)

Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review
by: Chih-Ping Chen, et al.
Published: (2016)

Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2020)

False positive non-invasive prenatal testing (NIPT) for partial deletion of chromosome 7q in a pregnancy associated with maternal uterine fibroids and a normal maternal blood cytogenetic result
by: Chih-Ping Chen
Published: (2024)

Prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations
by: Chih-Ping Chen, et al.
Published: (2024)