当前位置： SCI文献检索 > Taiwanese Journal of Obstetrics & Gynecology期刊下所有文献 > Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.

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

Abstract：

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.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Frisova V,Svobodova IT,Tozzi M,Raskova D

doi

10.1016/j.tjog.2018.08.021

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

726-729

issue

5

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(18)30188-8

journal_volume

57

pub_type

杂志文章

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