Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.
OBJECTIVE
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.


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.
Aleksandra
A
Jezela-Stanek
Ewa
E
Małunowicz
Siejka
S
Anna
Marzena
M
Kucharczyk
Bozenna
B
Goryluk-Kozakiewicz
Henryka
H
Sodowska
Małgorzata
M
Krajewska-Walasek
D000653:Amniotic Fluid / Q000737:chemistry*; D002775:Cholestadienols / Q000032:analysis*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000032:analysis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000639:trends*; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000378:metabolism
D002775:Cholestadienols; C026359:cholesta-5,8-dien-3 beta-ol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase