-
Je něco špatně v tomto záznamu ?
Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester
V. Frisova, IT. Svobodova, M. Tozzi, D. Raskova,
Jazyk angličtina Země Tchaj-wan
Typ dokumentu kazuistiky, časopisecké články
NLK
Directory of Open Access Journals
od 2004
Free Medical Journals
od 2004
Open Access Digital Library
od 2004-03-01
ROAD: Directory of Open Access Scholarly Resources
- MeSH
- amniocentéza MeSH
- chromozomální poruchy diagnóza embryologie genetika MeSH
- dospělí MeSH
- druhý trimestr těhotenství MeSH
- genetické testování metody MeSH
- gestační stáří MeSH
- lidé MeSH
- lidské chromozomy, pár 12 genetika MeSH
- mozaicismus MeSH
- odběr choriových klků * MeSH
- prenatální diagnóza metody MeSH
- těhotenství MeSH
- ultrasonografie prenatální * MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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.
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19012245
- 003
- CZ-PrNML
- 005
- 20190730105046.0
- 007
- ta
- 008
- 190405s2018 ch f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.tjog.2018.08.021 $2 doi
- 035 __
- $a (PubMed)30342660
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a ch
- 100 1_
- $a Frisova, Veronika $u Profema- Fetal Medicine Centre, Prague, Czech Republic; Department of Obstetrics and Gynecology, Faculty Hospital, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic. Electronic address: veronika.frisova@gmail.com.
- 245 10
- $a Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester / $c V. Frisova, IT. Svobodova, M. Tozzi, D. Raskova,
- 520 9_
- $a 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.
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a amniocentéza $7 D000649
- 650 12
- $a odběr choriových klků $7 D015193
- 650 _2
- $a chromozomální poruchy $x diagnóza $x embryologie $x genetika $7 D025063
- 650 _2
- $a lidské chromozomy, pár 12 $x genetika $7 D002881
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a genetické testování $x metody $7 D005820
- 650 _2
- $a gestační stáří $7 D005865
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mozaicismus $7 D009030
- 650 _2
- $a těhotenství $7 D011247
- 650 _2
- $a druhý trimestr těhotenství $7 D011262
- 650 _2
- $a prenatální diagnóza $x metody $7 D011296
- 650 12
- $a ultrasonografie prenatální $7 D016216
- 655 _2
- $a kazuistiky $7 D002363
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Svobodova, Ivana Tutkova $u Profema- Fetal Medicine Centre, Prague, Czech Republic; GynCentrum, Prague, Czech Republic.
- 700 1_
- $a Maděrková Tozzi, Michaela $7 xx0238442 $u Department of Obstetrics and Gynecology, Faculty Hospital, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.
- 700 1_
- $a Raskova, Dagmar $u Gennet, Prague, Czech Republic.
- 773 0_
- $w MED00167593 $t Taiwanese journal of obstetrics & gynecology $x 1875-6263 $g Roč. 57, č. 5 (2018), s. 726-729
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/30342660 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20190405 $b ABA008
- 991 __
- $a 20190730105250 $b ABA008
- 999 __
- $a ok $b bmc $g 1391555 $s 1050550
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2018 $b 57 $c 5 $d 726-729 $i 1875-6263 $m Taiwanese journal of obstetrics and gynecology $n Taiwan J Obstet Gynecol $x MED00167593
- LZP __
- $a Pubmed-20190405
