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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30214 - Obstetrics and gynaecology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

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

Název periodika

Taiwanese Journal of Obstetrics &amp; Gynecology

ISSN

1028-4559

e-ISSN

—

Svazek periodika

57

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

TW - Čínská republika (Tchaj-wan)

Počet stran výsledku

4

Strana od-do

726-729

Kód UT WoS článku

000455095300022

EID výsledku v databázi Scopus

2-s2.0-85052949344