Prenatal karyotype results from 2169 invasive tests.

Objectives: Foetal karyotyping is a basic tool used to diagnose the most common genetic syndromes. Although new molecular methods such as FISH, MLPA or QF-PCR allow rapid prenatal testing, they are of limited value when diagnosing less frequent chromosomal abnormalities. Chromosomal microarray analysis offers higher test resolution than traditional karyotyping and has been recommended as first-line genetic testing in prenatal diagnosis.

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

Introduction: Recurrent miscarriage is a serious clinical problem that affects 1-5 % of all couples trying to conceive. Although the incidence of Smith-Lemli-Opitz Syndrome (SLOS, OMIM #270400), an autosomal recessive condition caused by variants in the DHCR7 gene, is very low, (1:83 000), the observed carrier frequency of DHCR7 gene variants in the Polish population is high, ranging from 1:24 to 1:31. It is possible that this carriage may be responsible for early pregnancy loss.