Congenital malformations in 10,000 consecutive births in a University Hospital: Need for genetic counseling and prenatal diagnosis

The dynamics of indices of diagnosis and treatment of congenital malformations (CM) in St. Petersburg for 2006-2015 is presented. CM were reveal to retain a high specific gravity and rank structure as causal factors of the infant and child mortality rate, which requires the inclusion of prenatal diagnosis in the quality control of medical care provided by insurance medical organizations. CM were established to account of about 30% in the structure of infant mortality. The authors believe that preventive education of future parents, preconceptional genetic counseling, full coverage of prenatal screening of pregnant women and active work of ethical commissions, will reduce the frequency of births of children with CM.

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Report of some cases with chromosomal mosaicism in prenatal diagnosis and the corresponding results after birth

Ministry of Science and Technology, Vietnam ◽

10.31276/vjst.63(12).15-18 ◽

2021 ◽

Vol 63 (12) ◽

pp. 15-18

Author(s):

Thi Huyen Nguyen ◽

◽

Thi Hai Hoang ◽

Thi Trang Dao ◽

Thi Ngoc Lan Hoang ◽

...

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Peripheral Blood ◽

Blood Cells ◽

Culture Method ◽

Complex Problem ◽

University Hospital ◽

Chromosomal Mosaicism ◽

Chromosome Mosaicism ◽

Medical University

Chromosomal mosaicism in prenatal diagnosis is a complex problem that confuses the perception of true mosaicism or pseudomosaicismand often causes difficulties in genetic counseling. In this study, the authors reported 5 cases of chromosomal mosaicism in prenatal karyotype diagnosisand compared them withthe corresponding karyotype results of children after birth. Amniotic fluid and peripheral blood cells were prepared chromosomal metaphase by culture method and chromosomal analysis according to ISCN 2016 standards. Samples were collected and analysed at Hanoi Medical University Hospital from 2017 to 2020. There were 3 cases of abnormal prenatal chromosomal mosaicism, but the postnatal results were normal, two cases of abnormal prenatal chromosome mosaicism, but had abnormal peripheral blood postnatal chromosome results. These results, together with discussion, will provide more valuable information for the prognosis of chromosome mosaicism cases in prenatal diagnosis and give better genetic counseling for the patients.

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Principles of genetics as related to the chromosome disorders and congenital malformations with reference to prenatal diagnosis and genetic counseling

Journal of the American Academy of Dermatology ◽

10.1016/s0190-9622(81)70036-7 ◽

1981 ◽

Vol 4 (4) ◽

pp. 379-394 ◽

Cited By ~ 1

Author(s):

Joseph C. Alper

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Congenital Malformations

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Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis

Clinical Genetics ◽

10.1111/j.1399-0004.1986.tb00813.x ◽

2008 ◽

Vol 29 (3) ◽

pp. 204-210 ◽

Cited By ~ 6

Author(s):

C. Stoll ◽

M-P. Roth ◽

B. Dott ◽

P. Bigel

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Congenital Malformations

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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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Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping

BJOG An International Journal of Obstetrics & Gynaecology ◽

10.1111/j.1471-0528.2001.00118.x ◽

2001 ◽

Vol 108 (5) ◽

pp. 505-509

Author(s):

Juuso Kallinen ◽

Katja Marin ◽

Seppo Heinonen ◽

Arto Mannermaa ◽

Aarno Palotie ◽

...

Keyword(s):

Prenatal Diagnosis ◽

University Hospital ◽

Wide Scope

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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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