Prenatal diagnosis and genetic counseling of complete uniparental isodisomy of chromosome 3 with no phenotypic abnormalities

Abstract Background Paternal uniparental disomy (UPD) of chromosome 3 is a very rare condition. At present, only 5 cases of paternal UPD(3) has been reported. This was the second ascertained paternal UPD(3) with no apparent disease phenotype.Case presentation We hereby reported a case of a fetus with normal karyotype and normal ultrasound features at the whole gestation. A copy neutral regions of homozygosity on chromosome 3 was indentified by Single Nucleotide Polymophism array (SNP array). Subsequent SNP array data of parent–child trios showed the fetus has carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue the pregnancy after genetic counseling. The neonate had normal physical findings at birth and develops normally after 1.5 years. Conclusions The findings could provide further evidence to confirm that there was no important imprinted genes causing serious diseases on paternal chromosome 3 and provided a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.

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Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report

Molecular Cytogenetics ◽

10.1186/s13039-021-00569-8 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Xiufen Bu ◽

Xu Li ◽

Shihao Zhou ◽

Liangcheng Shi ◽

Xuanyu Jiang ◽

...

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Snp Array ◽

Uniparental Disomy ◽

Rare Condition ◽

Normal Karyotype ◽

Chromosome 3 ◽

Uniparental Isodisomy ◽

Normal Ultrasound ◽

Physical Findings

Abstract Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, with only five cases of paternal UPD(3) reported. Case presentation Here, we report a prenatal case that is only the second confirmed paternal UPD(3) reported with no apparent disease phenotype. The fetus had a normal karyotype and normal ultrasound features throughout gestation. Copy neutral regions of homozygosity on chromosome 3 were identified by single nucleotide polymorphism (SNP) array. Subsequent SNP array data of parent–child trios showed that the fetus carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue with the pregnancy after genetic counseling, and the neonate had normal physical findings at birth and showed normal development after 1.5 years. Conclusions These findings provided further evidence to confirm that there were no important imprinted genes on paternal chromosome 3 that caused serious diseases and a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.

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Prenatal diagnosis and genetic counseling

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(02)80019-3 ◽

2002 ◽

Vol 199 ◽

pp. S27-S28

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis

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Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

Frontiers in Genetics ◽

10.3389/fgene.2021.666648 ◽

2021 ◽

Vol 12 ◽

Author(s):

Sha Liu ◽

Hongqian Liu ◽

Jianlong Liu ◽

Ting Bai ◽

Xiaosha Jing ◽

...

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Pregnant Women ◽

Prenatal Screening ◽

Chromosomal Abnormalities ◽

Detection Methods ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

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Prenatal Diagnosis and Genetic Counseling

Fundamentals of Pediatric Surgery ◽

10.1007/978-1-4419-6643-8_2 ◽

2010 ◽

pp. 17-22

Author(s):

R. Douglas Wilson

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis

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Invasive Prenatal Diagnosis

10.2310/obg.19130 ◽

2020 ◽

Author(s):

Kimberly Zayhowski

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Genetic Testing ◽

Prenatal Care ◽

Chorionic Villus ◽

Prenatal Testing ◽

Chorionic Villus Sampling ◽

Genetic Tests ◽

Genetic Technologies ◽

Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures. This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

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Prenatal Genetic Diagnosis for Pediatricians

PEDIATRICS ◽

10.1542/peds.93.6.1010 ◽

1994 ◽

Vol 93 (6) ◽

pp. 1010-1015

Author(s):

Keyword(s):

Decision Making ◽

Genetic Counseling ◽

Prenatal Diagnosis ◽

Diagnostic Tests ◽

Genetic Disorder ◽

Genetic Diagnosis ◽

Decision Making Process ◽

Know How ◽

Prenatal Genetic Diagnosis ◽

The Family

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.

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