Targeted prenatal diagnosis of Pallister-Killian syndrome.

OBJECTIVE: To present five new cases of prenatally diagnosed Pallister-Killian syndrome (PKS) and to propose an approach for a targeted diagnosis. METHOD: 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.

[Aberrant right subclavian artery (ARSA)--a new sonographic marker for chromosomal aberrations in the second trimester--preliminary observations]. / Bladzaca prawa tetnica podobojczykowa--nowy marker aberracji chromosomowych w badaniu USG drugiego trymestru--wstepne obserwacje na materiale wlasnym.

OBJECTIVES: Presentation of our own, preliminary experiences in the assessment of the right subclavian artery's (RSA) position during the second trimester scan. MATERIAL AND METHODS: Since January 2012 our center has started to conduct the assessment of the position of the right subclavian artery in the second trimester scan. Patients who were diagnosed with an aberrant right subclavian artery (ARSA) were referred to invasive method of prenatal diagnosis. Abnormal karyotype and microdeletion 22q11 were analyzed. Detailed echocardiography was conducted in each case. RESULTS: Between January 2012 and September 2013 we diagnosed 19 cases of ARSA. There were three cases of congenital heart defect (15.8%; 3/19) (ventricular septal defect--VSD, n=2, atrioventricular septal defect--AVSD, n=1). Two out of 17 cases showed an abnormal karyotype (11.8%; 2/17)--46,XY del(5) (q15q31) and 47,XX+18. No 22q11.2 deletions were observed. Two patients did not consent to invasive methods of prenatal diagnosis. CONCLUSIONS: The position of the right subclavian artery (RSA) should be routinely assessed during the second trimester of ultrasound screening. The presence of ARSA increases the risk for abnormal karyotype in the fetus and therefore, all patients who are diagnosed with ARSA should be referred to the reference center.

Multiplex ligation-dependent probe amplification (MLPA)--new possibilities of prenatal diagnosis.

Multiplex Ligation-dependent Probe Amplification (MLPA) is a relatively new method of molecular diagnosis. It enables a relative quantitative assessment of up to 50 different PCR amplicons in one reaction by the use of a very small amount of examined DNA. Nowadays MLPA is becoming a very helpful tool in prenatal diagnosis and is widely used for the detection of aneuploidies, familial single gene disorders, common microdeletion syndromes, sub-telomeric alterations and identification of marker chromosomes in fetuses. This review demonstrates possible applications of MLPA in prenatal diagnosis.

[Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies]. / Analiza efektywnosci techniki MLPA w inwazyjnej diagnostyce prenatalnej najczestszych aneuploidii.

OBJECTIVES: To assess the effectiveness of the MLPA method (multiplex ligation dependent probe amplification) in prenatal diagnosis of common aneuploidies and compare its concordance with traditional karyotyping. MATERIAL AND METHODS: From October 2008 until July 2012 we performed 195 MLPA (MRC-Holland) tests with the P095 probe mix on DNA extracted from chorionic villi or amniotic fluid from pregnant women with elevated risk for abnormal fetal karyotype and 5 tests on miscarriage DNA samples. Cell culture and traditional karyotyping were performed in parallel. RESULTS: Traditional karyotyping was successfully performed in 192 cases (98.5%; 192/195). In 52 cases the fetal karyotype was abnormal (26.8%). The most common findings included aneuploidies of the following chromosomes: 13, 18, 21, X, Y (86.5%, 45/52). There were 179 conclusive and 1 inconclusive MLPA result (92.3%; 180/195). The absolute specificity and sensitivity of the MLPA test were 100%. In 9 cases traditional karyotyping revealed aberrations impossible to detect with the MLPA P095 kit. The MLPA reaction was successfully performed on all miscarriage DNA samples. CONCLUSIONS: MLPA is an effective method for detecting common aneuploidies. Its effectiveness for miscarriage DNA samples remains to be elucidated in further studies.

[Increased nuchal translucency in chromosomally normal fetuses and pregnancy outcomes--a retrospective study]. / Przeziernosc karku powyzej 3,5 mm u plodów z prawidlowym karfiotypem--analiza wyników ciaz.

OBJECTIVES: The objective was to study the outcomes of fetuses with increased nuchal translucency > or = 3.5 mm and normal karyotype. MATERIALS AND METHODS: We performed a retrospective study on pregnancy outcomes and children development in 87 women with increased fetal nuchal translucency and normal karyotype who underwent chorionic villus sampling at our department. Mean observation period was 12 months after birth. Adverse pregnancy outcome was defined as miscarriage and intrauterine fetal demise, termination of pregnancy structural defect, neonatal death, genetic syndrome and other major abnormalities. RESULTS: The total incidence of adverse pregnancy outcome was 39.1% (n = 34). The likelihood of an adverse pregnancy outcome, a major structural defect or major heart defect increased significantly with nuchal translucency (OR 3.77). 68 children (78.2%) were born alive. Nuchal translucency was significantly higher in newborns with adverse pregnancy outcome than in healthy children [4.1 mm vs. 5.7 mm; p < 0.01]. After a normal anomaly scan at 20 weeks gestation the risk of adverse outcome was 14.5% (n = 9, 9/62) and increased with nuchal translucency thickness from 10.2% for NT 3.5-4.4 mm to 100% for NT > or = 6.5 mm [p < 0. 0 1]. There was no significant relationship of fetal gender maternal age and persistence of the nuchal fold with adverse pregnancy outcome. The rate of neurodevelopmental delay was 3.4 % and was not higher than in the general population. CONCLUSIONS: The overall risk of adverse pregnancy outcome was around 40% and was related to nuchal translucency thickness. After excluding structural defects, the chance of a favorable outcome was 85%. The rate of neurodevelopmental delay in fetuses with increased nuchal translucency normal karyotype and normal anatomy is not higher than in the general population.