Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F18%3A73590070" target="_blank" >RIV/61989592:15110/18:73590070 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1016/j.tjog.2018.08.021" target="_blank" >http://dx.doi.org/10.1016/j.tjog.2018.08.021</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.tjog.2018.08.021" target="_blank" >10.1016/j.tjog.2018.08.021</a>

Result language

angličtina

Original language name

Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.

Original language description

OBJECTIVE: To highlight importance of detailed ultrasound examination in fetuses with known normal karyotype (and micro-array result) from CVS. In case of markedly abnormal ultrasound result repeated karyotyping by amniocentesis should be considered. Sample should be analyzed by routine cytogenetic techniques, however also micro-array and targeted FISH should be added in order to achieve most accurate diagnosis. CASE REPORT: We report prenatal diagnosis of Pallister-Killian Syndrome (PKS) at 18 gestational weeks. The mother asked us for second opinion scan in our centre due to finding of seven soft markers of chromosomal defects in fetus with normal CVS result. Our examination revealed asymmetrical fetal growth, normohydramnion, spastic fetal movements and several abnormalities: nuchal edema, mild bilateral hydronephrosis, omphalocoele and facial anomalies. We asked for targeted genetic analysis for PKS. Amniocentesis with repeated genetic analysis confirmed PKS (80% mosaicism of tetrasomy 12p). CONCLUSION: Diagnosis of PKS led mother to terminate pregnancy.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30214 - Obstetrics and gynaecology

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Taiwanese Journal of Obstetrics &amp; Gynecology

ISSN

1028-4559

e-ISSN

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Volume of the periodical

57

Issue of the periodical within the volume

5

Country of publishing house

TW - TAIWAN (PROVINCE OF CHINA)

Number of pages

4

Pages from-to

726-729

UT code for WoS article

000455095300022

EID of the result in the Scopus database

2-s2.0-85052949344