Literature DB >> 27904917

Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.

Kathryn S Milks1, Lyndon M Hill2, Keyanoosh Hosseinzadeh3.   

Abstract

Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis.

Entities:  

Keywords:  Bone; Chondro-osseous disorder; Fetus; Lethal; Skeletal dysplasia; Ultrasound

Mesh:

Year:  2016        PMID: 27904917     DOI: 10.1007/s00247-016-3725-5

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  58 in total

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Journal:  Ultrasound Obstet Gynecol       Date:  2005-12       Impact factor: 7.299

2.  Lung and heart volumes by three-dimensional ultrasound in normal fetuses at 12-32 weeks' gestation.

Authors:  C F A Peralta; P Cavoretto; B Csapo; O Falcon; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2006-02       Impact factor: 7.299

3.  Standard terminology for fetal, infant, and perinatal deaths.

Authors:  Wanda Denise Barfield
Journal:  Pediatrics       Date:  2011-06-27       Impact factor: 7.124

4.  Ultrasonic ratio of fetal thoracic to abdominal circumference: an association with fetal pulmonary hypoplasia.

Authors:  A Johnson; N A Callan; V K Bhutani; G H Colmorgen; S Weiner; R J Bolognese
Journal:  Am J Obstet Gynecol       Date:  1987-09       Impact factor: 8.661

5.  Three-dimensional ultrasound in the prenatal diagnosis of osteogenesis imperfecta.

Authors:  Pei-Yin Tsai; Chiung-Hsin Chang; Chen-Hsiang Yu; Yueh-Chin Cheng; Fong-Ming Chang
Journal:  Taiwan J Obstet Gynecol       Date:  2012-09       Impact factor: 1.705

6.  Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome.

Authors:  A Rahemtullah; B McGillivray; R D Wilson
Journal:  Am J Obstet Gynecol       Date:  1997-10       Impact factor: 8.661

7.  Thanatophoric dysplasia: role of 3-dimensional sonography.

Authors:  Pei-Yin Tsai; Chiung-Hsin Chang; Chen-Hsiang Yu; Yueh-Chin Cheng; Fong-Ming Chang
Journal:  J Clin Ultrasound       Date:  2009-01       Impact factor: 0.910

8.  Prenatal diagnosis of the skeletal dysplasias.

Authors:  R Sharony; C Browne; R S Lachman; D L Rimoin
Journal:  Am J Obstet Gynecol       Date:  1993-09       Impact factor: 8.661

Review 9.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

10.  Outcome of fetuses with diagnosis of isolated short femur in the second half of pregnancy.

Authors:  José Morales-Roselló; Núria Peralta Llorens
Journal:  ISRN Obstet Gynecol       Date:  2012-04-17
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  9 in total

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2.  Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Authors:  Agnieszka Stembalska; Małgorzata Rydzanicz; Magdalena Klaniewska; Lech Dudarewicz; Agnieszka Pollak; Mateusz Biela; Piotr Stawinski; Rafal Ploski; Robert Smigiel
Journal:  Genes (Basel)       Date:  2022-07-27       Impact factor: 4.141

3.  Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Authors:  Juan Llerena; Chong Ae Kim; Virginia Fano; Pablo Rosselli; Paulo Ferrez Collett-Solberg; Paula Frassinetti Vasconcelos de Medeiros; Mariana Del Pino; Débora Bertola; Charles Marques Lourenço; Denise Pontes Cavalcanti; Têmis Maria Félix; Antonio Rosa-Bellas; Norma Teresa Rossi; Fanny Cortes; Flávia Abreu; Nicolette Cavalcanti; Maria Cecilia Hervias Ruz; Wagner Baratela
Journal:  BMC Pediatr       Date:  2022-08-19       Impact factor: 2.567

Review 4.  Current Overview of Osteogenesis Imperfecta.

Authors:  Mari Deguchi; Shunichiro Tsuji; Daisuke Katsura; Kyoko Kasahara; Fuminori Kimura; Takashi Murakami
Journal:  Medicina (Kaunas)       Date:  2021-05-10       Impact factor: 2.430

5.  Development of a comprehensive noninvasive prenatal test.

Authors:  Carolina Malcher; Guilherme L Yamamoto; Philip Burnham; Suzana A M Ezquina; Naila C V Lourenço; Sahilla Balkassmi; David S Marco Antonio; Gabriella S P Hsia; Thomaz Gollop; Rita C Pavanello; Marco Antonio Lopes; Egbert Bakker; Mayana Zatz; Débora Bertola; Iwijn De Vlaminck; Maria Rita Passos-Bueno
Journal:  Genet Mol Biol       Date:  2018-07-16       Impact factor: 1.771

Review 6.  Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

Authors:  Amaka C Offiah; Jerry Vockley; Craig F Munns; Jun Murotsuki
Journal:  Pediatr Radiol       Date:  2018-10-03

7.  Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in PPIB Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound.

Authors:  Ting-Yu Chang; I-Fang Chung; Wan-Ju Wu; Shun-Ping Chang; Wen-Hsiang Lin; Norman A Ginsberg; Gwo-Chin Ma; Ming Chen
Journal:  Diagnostics (Basel)       Date:  2020-05-07

8.  Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.

Authors:  Ruibing Li; Jianan Wang; Longxia Wang; Yanping Lu; Chengbin Wang
Journal:  Mol Genet Genomic Med       Date:  2020-01-03       Impact factor: 2.183

9.  Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

Authors:  Frederik Braun; Andrea Gangfuß; Petra Stöbe; Tobias B Haack; Bernd Schweiger; Andreas Roos; Ulrike Schara
Journal:  Mol Genet Genomic Med       Date:  2021-07-20       Impact factor: 2.183

  9 in total

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