title: Targeted prenatal diagnosis of Pallister-Killian syndrome.
abstract: OBJECTIVE
  To present five new cases of prenatally diagnosed Pallister-Killian syndrome (PKS) and to propose an approach for a targeted diagnosis.
  
  
  METHODS
  We retrospectively analyzed ultrasound findings and cytogenetic results in PKS. We also searched through dysmorphology databases for features occurring in PKS that could potentially be seen in prenatal ultrasound examination.
  
  
  RESULTS
  On the basis of collected data, frequent and distinctive features in fetuses with PKS were established. The most appropriate material and method of testing were proposed. Rhizomelic limb shortening, diaphragmatic hernia, thickened nuchal fold, increased prenasal thickness, polydactyly and polyhydramnios were frequent and distinctive findings in fetuses with PKS. Amniocentesis was the most frequent prenatal procedure for material collection. Percentage of aneuploid cells was higher in amniotic fluid than in cord blood. Cytomolecular tests were useful as confirmation as well as preliminary tests. Cytogenetic identification of the isochromosome was done in all cases except one.
  
  
  CONCLUSIONS
  In case of ultrasound evaluation of features frequent and distinctive for PKS in second and third trimesters of pregnancy, targeted diagnosis should be considered. Amniotic fluid instead of cord blood collection is preferable. Communication with the laboratory is important because modification of routine procedures enhances a chance for correct diagnosis. © 2017 John Wiley & Sons, Ltd.
authors.affiliation: I Clinic of Obstetrics and Gynecology, Professor Witold Orłowski Independent Public Clinical Hospital - Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Anna
authors.identifier: http://orcid.org/0000-0002-4919-6425
authors.initials: A
authors.lastname: Kucińska-Chahwan
authors.affiliation: I Clinic of Obstetrics and Gynecology, Professor Witold Orłowski Independent Public Clinical Hospital - Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Julia
authors.identifier: http://orcid.org/0000-0001-8342-8560
authors.initials: J
authors.lastname: Bijok
authors.affiliation: I Clinic of Obstetrics and Gynecology, Professor Witold Orłowski Independent Public Clinical Hospital - Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Dąbkowska
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Jóźwiak
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Alicja
authors.initials: A
authors.lastname: Ilnicka
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Nowakowska
authors.affiliation: I Clinic of Obstetrics and Gynecology, Professor Witold Orłowski Independent Public Clinical Hospital - Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Jakiel
authors.affiliation: I Clinic of Obstetrics and Gynecology, Professor Witold Orłowski Independent Public Clinical Hospital - Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Roszkowski
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis*; D002881:Chromosomes, Human, Pair 12; D020732:Cytogenetic Analysis; D005260:Female; D005865:Gestational Age; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal; D055815:Young Adult