Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.
Ginekol Pol
; 86(8): 598-602, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26492708
ABSTRACT
AIM OF THE STUDY Biochemical diagnosis of fetuses with multiple malformations--an attempt to determine the frequency of prenatal Smith-Lemli-Opitz syndrome. Discussion on trends in prenatal diagnosis of non-specific multiple malformations disorders. MATERIAL AND METHODS:
A total of 117 fetal samples were obtained. They were analyzed with gas chromatography/mass spectrometry (GC/MS) method to assess the concentration of 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) in amniotic fluid samples and (or) to establish 7-dehydroestriol/estriol and 8-dehydropregnanetriol/pregnanetrio ratios in maternal urine.RESULTS:
In 4 cases Smith-Lemll-Opitz syndrome was confirmed.CONCLUSIONS:
Biochemical GC/MS sterol analyses of amniotic fluid or maternal urinary metabolites toward Smith- Lemli-Opitz syndrome, as cheap tests, should be performed in all pregnancies with suggestive ultrasound features (holoprosencephaly and(or) atrioventricular canal and(or) genital anomalies), especially when nuchal translucency is increased >3 mm, and after exclusion of chromosomal aberration in routine karyotyping or even arrayCGH.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Colestadienoles
/
Síndrome de Smith-Lemli-Opitz
/
Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH
/
Líquido Amniótico
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Ginekol Pol
Año:
2015
Tipo del documento:
Article