Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography

Autor:	P, Dar, G S, Sachs, S M, Carter, J C, Ferreira, H M, Nitowsky, S J, Gross
Rok vydání:	2001
Předmět:	Adult Diagnosis Differential Pregnancy Pregnancy Trimester Second Humans Female Bardet-Biedl Syndrome Ultrasonography Prenatal
Zdroj:	Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 17(4)
ISSN:	0960-7692
Popis:	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature. Definitive molecular diagnosis for BBS is not currently available and counseling of affected families is based on the 25% recurrence risk consistent with autosomal recessive inheritance. Our case presents the first successful use of second trimester targeted sonographic anatomy scanning to prospectively identify a fetus affected with BBS, and indicates that ultrasound can be of critical importance in providing precise as well as timely prenatal diagnosis for families at risk for this serious disorder.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::3fd9055c2b68c710241ab9f3e5522aef https://pubmed.ncbi.nlm.nih.gov/11339197 Zobrazit plný text záznamu Plný text