Prenatal Diagnosis of Skeletal Dysplasias


Description: Detection of a skeletal dysplasia in utero (during pregnancy) using ultrasound and/or genetic testing, such as amniocentesis or chorionic villus sampling.

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Achondroplasia-hypochondroplasia complex in a newborn infant.

Source/Author: Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.; Am J Med Genet. 1999 Jun 11;84(5):396-400. 

Abstract

Case report of a patient with achondroplasia and hypochondroplasia - prenatally and postnatally.

Antenatal detection of skeletal dysplasias.

Source/Author: Parilla BV, Leeth EA, Kambich MP, Chilis P, MacGregor SN.; J Ultrasound Med. 2003 Mar;22(3):255-8; quiz 259-61.

Abstract

Discussion of the ability to predict the skeletal dysplasia diagnosis on prenatal ultrasound.

Case studies: campomelic dysplasia

Source/Author: Kristen J Eger 

Web-based (medical)

Medical article on the prenatal diagnosis of campomelic dysplasia by ultrasound

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

Source/Author: Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.; Am J Med Genet. 1999 Jun 11;84(5):401-5. 

Abstract

Report on a newborn with achondroplasia and hypochondroplasia including clinical information and prenatal diagnosis details.

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

Source/Author: Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.; Am J Med Genet. 1999 Jun 11;84(5):401-5. 

Abstract

Case report of prenatal diagnosis of parents, one with achondroplasia and one with hypochondroplasia, and their child who inherit genetic mutations for both conditions.

Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound.

Source/Author: Gembruch U, Niesen M, Kehrberg H, Hansmann M.; Prenat Diagn. 1988 Sep;8(7):539-45.

Abstract

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Source/Author: Krakow D, Alanay Yasemin, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL

Full text medical 

Medical journal article discussing a standard approach to ultrasound on a fetus suspected to have a skeletal dysplasia. 

Fetal skeletal dysplasia

Source/Author: Children's Memorial Hospital, Chicago 

Web-based (medical)

Discussion of skeletal dysplasias that may be diagnosed prenatally.

First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.

Source/Author: Dugoff L, Thieme G, Hobbins JC. 

Full text

Medical journal article on the diagnosis of EvC by ultrasound early in pregnancy.

First-Trimester Diagnosis of Robinow Syndrome

Source/Author: E. Ferda Percina, Tevfik Guvenalb, Ali Cetinb, Stk Percinc, Fahrettin Gozed, Sema Aricid 

Abstract

Prenatal Diagnosis of Robinow syndrome

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Source/Author: Krakow D, Lachman RS, Rimoin DL.

Abstract

Reference for medical providers on how to diagnosed skeletal dysplasias prenatally. 

Issues surrounding prenatal genetic testing for achondroplasia.

Source/Author: Gooding HC, Boehm K, Thompson RE, Hadley D, Francomano CA, Biesecker BB.; Prenat Diagn. 2002 Oct;22(10):933-40. 

Abstract

A study to determine the awareness of, interest in and use of prenatal genetic testing for achondroplasia in individuals and families with achondroplasia.

Living with achondroplasia: attitudes toward population screening and correlation with quality of life.

Source/Author: Gollust SE, Thompson RE, Gooding HC, Biesecker BB.; Prenat Diagn. 2003 Dec 15;23(12):1003-8. 

Abstract

The study assessed attitudes toward prenatal screening for achondroplasia and correlation with quality of life in a population of individuals affected with achondroplasia and first-degree relatives.

Prenatal and Preimplantation Diagnosis

Source/Author: The MPS society 

Support Group

Discussion of the available options for prenatal diagnosis and preimplantation genetic diagnosis for couples who have had a previous child with a genetic disorder or are at risk of having a child with a genetic disorder. Applicable to any genetic condition.

Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy.

Source/Author: Cordier AG, Mabille M, Delezoide AL, Chambon G, Frydman R, Senat MV, Picone O.

Abstract

Medical journal article detailing the findings of this condition that can be identified on ultrasound during pregnancy. 

Full text article available by contacting medical@lpaonline.org

Prenatal diagnosis of campomelic dysplasia by ultrasonography.

Source/Author: Winter R, Rosenkranz W, Hofmann H, Zierler H, Becker H, Borkenstein M.; Prenat Diagn. 1985 Jan-Feb;5(1):1-8. 

Abstract

Prenatal diagnosis of genetic osteochondrodysplasias.

Source/Author: Kelly TE, Hall JG, Horton W, Scott CI. 

Abstract

Full text article available by contacting medical@lpaonline.org

Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report.

Source/Author: Suzumura H, Kohno T, Nishimura G, Watanabe H, Arisaka O.; Pediatr Radiol. 2002 May;32(5):373-5. Epub 2002 Mar 9. 

Abstract

Prenatal diagnosis of hypochondroplasia: report of two cases.

Source/Author: Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A. 

Abstract

Diagnosis of two babies with hypochondroplasia in pregnancy by ultrasound after 23 weeks gestation. 

Prenatal sonographic diagnosis of diastrophic dwarfism.

Source/Author: Tongsong T, Wanapirak C, Sirichotiyakul S, Chanprapaph P.; J Clin Ultrasound. 2002 Feb;30(2):103-5. 

Abstract

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.

Source/Author: Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ.; Am J Med Genet. 1999 Nov 26;87(3):226-9. 

Abstract 

Prenatal diagnosis of hypochondroplasia by ultrasound

Prenatal Testing Overview

Source/Author: Centre for Genetics Education, Australia Overview of prenatal testing options.

Prenatal Tests

Source/Author: Kids Health for Parents; Reviewed by: Barbara P. Homeier, MD 

Web-based (lay)

General overview in lay terms about tests available in pregnancy.

Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation.

Source/Author: Severi FM, Bocchi C, Sanseverino F, Petraglia F.; J Matern Fetal Neonatal Med. 2003 Apr;13(4):282-4

Abstract

Skeletal Dysplasias

Source/Author: Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia

Web-based (lay)

Discussion of skeletal dysplasias that may be diagnosed prenatally.

The Continuum of Disability and Trait in the Age of Genetic Manipulation

Source/Author: Ruth Ricker, past president of LPA 

Support Group

Ethical discussion regarding the use of genetic testing and prenatal diagnosis for dwarfism and other traits.

Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias.

Source/Author: Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Platt LD; Ultrasound Obstet Gynecol. 2003 May;21(5):467-72 

Abstract

The utilization of two dimensional and three dimensional ultrasound to detect skeletal dysplasias prenatally.

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

Source/Author: Jung C, Sohn C, Sergi C.; Prenat Diagn. 1998 Apr;18(4):378-83. 

Abstract

 
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