Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter

The Kagami–Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal uniparental disomy 14 [upd(14)pat], epimutations, and microdeletions affecting the maternally derived imprinted region of chromosome 14q32.2. More than 77 cases of KOS have been reported; however, only one mosaic upd(14)pat case has been reported. Here we report a second mosaic upd(14)pat case. The prognosis of upd(14)pat patients is poor because of severe respiratory insufficiency. We summarized prenatal ultrasound findings of KOS to raise awareness of this condition for possible diagnosis of KOS prenatally when polyhydramnios combination with a small bell-shaped thorax and other related features are first observed. Prenatal diagnosis using methylation-specific multiplex ligation-dependent probe amplification (MLPA) or a single-nucleotide polymorphism-based microarray analysis is recommended.

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Paternal uniparental disomy for chromosome 14: prenatal management

BMJ Case Reports ◽

10.1136/bcr-2019-231705 ◽

2019 ◽

Vol 12 (12) ◽

pp. e231705

Author(s):

Joana Isabel Igreja da Silva ◽

Barbara Ribeiro ◽

Alexandra Cadilhe ◽

Cristina Nogueira-Silva

Keyword(s):

Uniparental Disomy ◽

First Trimester ◽

Molecular Study ◽

Chromosome 14 ◽

Female Fetus ◽

Maternal Contribution ◽

Ultrasound Findings ◽

Prenatal Management ◽

Paternal Uniparental Disomy ◽

First Trimester Ultrasound

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks’ gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks’ gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.

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Abnormal prenatal ultrasound findings in mevalonic aciduria

Prenatal Diagnosis ◽

10.1002/pd.1917 ◽

2008 ◽

Vol 28 (3) ◽

pp. 257-258 ◽

Cited By ~ 7

Author(s):

V. Schwarzer ◽

D. Haas ◽

G. F. Hoffmann ◽

H. Meyberg ◽

U. Gembruch

Keyword(s):

Prenatal Ultrasound ◽

Ultrasound Findings ◽

Mevalonic Aciduria

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Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

Birth Defects Research Part A Clinical and Molecular Teratology ◽

10.1002/bdra.23194 ◽

2013 ◽

Vol 97 (12) ◽

pp. 806-811 ◽

Cited By ~ 8

Author(s):

Anne Debost-Legrand ◽

Carole Goumy ◽

Hélène Laurichesse-Delmas ◽

Pierre Déchelotte ◽

Anne-Marie Beaufrère ◽

...

Keyword(s):

Congenital Malformations ◽

Prenatal Ultrasound ◽

Ultrasound Findings

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A Case of Angelman Syndrome Arising as a Result of a De Novo Robertsonian Translocation

Acta geneticae medicae et gemellologiae twin research ◽

10.1017/s0001566000001410 ◽

1996 ◽

Vol 45 (1-2) ◽

pp. 255-261 ◽

Cited By ~ 3

Author(s):

S. Ramsden ◽

L. Gaunt ◽

A. Seres-Santamaria ◽

J. Clayton-Smith

Keyword(s):

Angelman Syndrome ◽

Robertsonian Translocation ◽

De Novo ◽

Uniparental Disomy ◽

Male Child ◽

Paternal Uniparental Disomy

AbstractA male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

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Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy

Journal of Neurogenetics ◽

10.3109/01677063.2015.1091452 ◽

2015 ◽

Vol 29 (4) ◽

pp. 178-182

Author(s):

Francesco Nicita ◽

Giacomo Garone ◽

Laura Papetti ◽

Federica Consoli ◽

Monia Magliozzi ◽

...

Keyword(s):

Angelman Syndrome ◽

Uniparental Disomy ◽

Paternal Uniparental Disomy

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Restrictive dermopathy and associated prenatal ultrasound findings: case report

Ultrasound in Obstetrics and Gynecology ◽

10.1046/j.1469-0705.1997.10020140.x ◽

1997 ◽

Vol 10 (2) ◽

pp. 140-141 ◽

Cited By ~ 11

Author(s):

J. G. van der Stege ◽

H. L. M. van Straaten ◽

A. C. van der Walt ◽

J. van Eyck

Keyword(s):

Case Report ◽

Prenatal Ultrasound ◽

Ultrasound Findings ◽

Restrictive Dermopathy

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Novel Risk Score for Fetuses with Congenital Diaphragmatic Hernia Based on Ultrasound Findings

European Journal of Pediatric Surgery ◽

10.1055/s-0039-1698768 ◽

2019 ◽

Vol 30 (01) ◽

pp. 051-058

Author(s):

Keita Terui ◽

Kouji Nagata ◽

Masahiro Hayakawa ◽

Hiroomi Okuyama ◽

Shoichirou Amari ◽

...

Keyword(s):

Prediction Model ◽

Congenital Diaphragmatic Hernia ◽

Risk Score ◽

Diaphragmatic Hernia ◽

Validation Cohort ◽

Prenatal Ultrasound ◽

Odds Ratios ◽

Ultrasound Findings ◽

Liver Herniation ◽

Thoracic Stomach

Abstract Introduction We aimed to establish and validate a risk score for fetuses with congenital diaphragmatic hernia (CDH) using only prenatal ultrasound findings. Material and Methods Derivation (2011–2016, n = 350) and validation (2006–2010, n = 270) cohorts were obtained from a Japanese CDH study group database. Using a logistic regression analysis, we created a prediction model and weighted scoring system from the derivation dataset and calculated the odds ratio of an unsatisfactory prognosis (death within 90 days of life or hospitalization duration exceeding 180 days). Five adverse prognostic factors obtained using prenatal ultrasound, including an observed/expected lung area-to-head circumference ratio (o/eLHR) <25%, liver herniation occupying more than one-third of the thoracic space, thoracic stomach, right-side CDH, and severe malformations, were used as predictors. The obtained model was validated using the validation cohort. Results The unsatisfactory prognosis prediction model was obtained based on the adjusted odds ratios. The C statistics of the model were 0.83 and 0.80 in the derivation and validation datasets, respectively. The five variables were weighted proportionally to their adjusted odds ratios for an unsatisfactory prognosis (o/eLHR <25%, 1 point; liver herniation occupying more than one-third of the thoracic space, 1 point; thoracic stomach, 1 point; right-side CDH, 2 points; and severe malformations, 3 points). Unsatisfactory prognosis rates for the low- (0–2 points), intermediate- (3–5 points), and high-risk (6–8 points) groups were 17, 46, and 100%, respectively (p < 0.001), in the validation cohort. Conclusion Our simple risk score effectively predicted the prognosis of fetuses with CDH.

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