Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil

2013 ◽  
Vol 161 (6) ◽  
pp. 1278-1283 ◽  
Author(s):  
Patrícia Petry ◽  
Janaina B. Polli ◽  
Vinícius F. Mattos ◽  
Rosana C.M. Rosa ◽  
Paulo R.G. Zen ◽  
...  
Keyword(s):  
Clinical Features ◽  
Trisomy 13 ◽  
Patau Syndrome

scholarly journals Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two Cases

2008 ◽  
Vol 11 (1) ◽  
pp. 69-74
Author(s):  
A Pazarbaşi ◽  
O Demirhan ◽  
D Süleymanova-Karahan ◽  
D Taştemir ◽  
E Tunç ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Features ◽  
Robertsonian Translocation ◽  
Cleft Lip And Palate ◽  
De Novo ◽  
Extra Chromosome ◽  
Trisomy 13 ◽  
Classical Type ◽  
Chromosome 13 ◽  
Patau Syndrome

Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two CasesPatau syndrome is associated with extra chromosome 13 material, either free as in the 47,++13 or in a Robertsonian translocation or another rearrangement. We report on two fetuses with trisomy 13 who were diagnosed prenatally via cord blood and amniocentesis, respectively. They showedde novoRobertsonian translocation between chromosome 13 and 13, and had normal parents. One was detected cytogeneticaly at 24 weeks of gestation with a karyotype of 46, XX, rob(13;13) and lived only 1 month after birth. Holoprosencephaly, proboscis, microphthalmia and heart septal defects were present. The other fetus was examined at 14 weeks gestation because of cystic hygroma, hydrothorax and hyperechogenic kidneys and had the karyotpe 46, XY, rob(13;13). After abortion the fetus was found to have a cleft lip and palate, postaxial polydactyly of the feet, micrognathia, omphalocele, low-set ears with abnormal helix and to be small for the gestational age. Due to the difference in chromosomal makeup seen in non disjunction, there may be differences in expression of several of the features often seen with trisomy 13, either classical type (as in the 47,++13) orde novoRobertsonian translocation type (as in the 46).

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Bartosz Rajs ◽  
Agnieszka Nocuń ◽  
Anna Matyszkiewicz ◽  
Marcin Pasternok ◽  
Michał Kołodziejski ◽  
...  
Keyword(s):  
Heart Defects ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Patau Syndrome ◽  
A Prospective Study ◽  
Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

scholarly journals Steno-Fallots tetralogi og Bartholin-Pataus syndrom. En hjertemisdannelse og et misdannelsessyndrom første gang beskrevet af danske anatomer i 1600-tallet

2015 ◽  
Vol 54 ◽  
pp. 197
Author(s):  
Jesper Brandt Andersen ◽  
Niels W. Bruun
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Trisomy 13 ◽  
Latin Text ◽  
Female Fetus ◽  
Left Hand ◽  
Anatomy And Physiology ◽  
Patau Syndrome ◽  
Heart Malformation ◽  
The Right

Jesper Brandt Andersen & Niels W. Bruun: Tetralogy of Steno-Fallot and Bartholin-Patau syndrome. A heart malformation and a malformation syndrome first described by Danish anatomists in the seventeenth century. The heart malformation tetralogy of Steno-Fallot was first described by the Danish anatomist Niels Stensen (Nicolaus Steno) (1638–1686) in Thomas Bartholin’s Acta Medica & Philosophica Ann. 1671 & 1672 in 1673, but this was not discovered until 1942. Stensen’s description was built upon a dissection of a female fetus, which he made during his stay in Paris 1664–1665. We bring the first full Danish translation of Stensen’s Latin text and an analysis of his description in relation to his contemporaries and the present. Stensen describes three of the four elements of the tetralogy described in three adult patients by Fallot in 1888, namely ventricular septal defect, pulmonic stenosis and dexteriority of the aorta. The fact that Stensen does not mention the hypertrophy of the right ventricle may have two good reasons. Firstly, the difference between the wall thickness of the right and left ventricles is generally less pronounced in a fetus than after the birth and this would be expected even more in a heart malformation with overload on the right ventricle.Secondly, Stensen may have considered the right sided hypertrophy as merely a result of the three other elements of the tetralogy than as a malformation in itself.Stensen’s description reveals an impressive knowledge about the circulation of the blood in the heart of a fetus, and we speculate that he may have been the first in history to deliver such a precise description, not only of the anatomy and physiology of the tetralogy of Steno-Fallot, but also of the anatomy and physiology of the blood circulation in the fetal heart. Stensen’s fetus had several other malformations, i.e. cleft lip and palate, schisis of the abdomen and thorax and syndactyly of the second to fifth fingers on the left hand. We suggest that the fetus may have had acrofacial dysostosis 1 (Nager syndrome), which is caused by a mutation on chromosome 1q21.2.Likewise, Stensen’s mentor, the Danish anatomist Thomas Bartholin (1616–1680), was the first to describe a case report of the Bartholin-Patau syndrome in his Historiarum anatomicarum rariorum Centuria III & IV in 1657, but this was not discovered until 1960, the same year as Patau and collaborators showed that this syndrome is caused by trisomy 13. We bring the first full Danish translation of Bartholin’s Latin text with an analysis in relation to his age and the present.

Patau Syndrome - Trisomy 13

2021 ◽  
pp. 269-272
Author(s):  
Mirna Lechpammer
Keyword(s):  
Trisomy 13 ◽  
Patau Syndrome

Patau syndrome (trisomy 13)

2005 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst ◽  
Judith G. Hall
Keyword(s):  
Trisomy 13 ◽  
Patau Syndrome

scholarly journals Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Yibo Chen ◽  
Qi Yu ◽  
Xiongying Mao ◽  
Wei Lei ◽  
Miaonan He ◽  
...  
Keyword(s):  
Clinical Features ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Detection Rates ◽  
Non Invasive ◽  
Cell Free Fetal Dna ◽  
Sex Chromosome Aneuploidies

Abstract Background Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screening test for aneuploidies and CNVs in 42,910 single pregnancies. Methods A total of 42,910 single pregnancies with different clinical features were recruited. The cell-free fetal DNA was directly sequenced. Each of the chromosome aneuploidies and the subchromosomal microdeletions/microduplications of PPV were analyzed. Results A total of 534 pregnancies (1.24%) were abnormal results detected by NIPT, and 403 pregnancies had underwent prenatal diagnosis. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 79.23%, 54.84%, 13.79%, 33.04%, and 9.38% respectively. The PPV for CNVs was 28.99%. The PPV for CNVs ≤ 5 Mb is 20.83%, for within 5–10 Mb 50.00%, for > 10 Mb 27.27% respectively. PPVs of NIPT according to pregnancies characteristics are also different. Conclusion Our data have potential significance in demonstrating the usefulness of NIPT profiling not only for common whole chromosome aneuploidies but also for CNVs. However, this newest method is still in its infancy for CNVs. There is still a need for clinical validation studies with accurate detection rates and false positive rates in clinical practice.

Trisomy 13 (Patau syndrome) and congenital heart defects

2013 ◽  
Vol 164 (1) ◽  
pp. 272-275 ◽  
Author(s):  
Janaina B. Polli ◽  
Daniela de P. Groff ◽  
Patrícia Petry ◽  
Vinícius F. Mattos ◽  
Rosana C. M. Rosa ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Trisomy 13 ◽  
Patau Syndrome

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study

2020 ◽  
Vol 39 (2) ◽  
pp. 83-91
Author(s):  
Mary Whalen
Keyword(s):  
Chromosomal Abnormalities ◽  
Rare Condition ◽  
Trisomy 13 ◽  
Aplasia Cutis Congenita ◽  
Live Births ◽  
Patau Syndrome ◽  
Males And Females ◽  
Aplasia Cutis

Aplasia cutis congenita (ACC) is a rare condition that presents at birth as an absence of skin that does not usually involve underlying structures. Occurring in 3/10,000 live births, ACC is evenly distributed between males and females; the risk of ACC increases to 7 percent in consanguineous marriages. Up to 86 percent of lesions are found on the scalp in the midline vertex position. Lesions can also be found on the trunk and limbs, as with Adams-Oliver syndrome or accompanying epidermolysis bullosa. ACC is associated with chromosomal abnormalities and 35–50 percent of the time with trisomy 13 (Patau syndrome). This case study presents an infant with multiple ACC lesions of the scalp. The pathophysiology, treatment, potential long-term complications, and nursing considerations are discussed.

Autosomal Trisomies: What Neonatal Nurses Need to Know

1999 ◽  
Vol 18 (8) ◽  
pp. 7-15 ◽  
Author(s):  
Ann Cox
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Trisomy 13 ◽  
Neonatal Nurses ◽  
Patau Syndrome ◽  
Edwards Syndrome ◽  
Major Congenital Malformations ◽  
Associated Abnormalities

Autosomal trisomies are associated with major congenital malformations that may result in prolonged hospitalization of the newborn. Knowledge about these chromosomal abnormalities is important for nurses in neonatal practice. This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). More detailed description of the manifestations, associated abnormalities, and outcomes of the most common of these, trisomy 21, is provided.

scholarly journals Alobar holoprosencephaly and Trisomy 13 (Patau syndrome)

2013 ◽  
Vol 3 (2) ◽  
Author(s):  
Andressa Dias Costa ◽  
Regina Schultz ◽  
Sérgio Rosemberg
Keyword(s):  
Trisomy 13 ◽  
Patau Syndrome
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