Invasive methods for prenatal diagnosis include chorionic villus sampling (CVS) and amniocentesis that entail the risk of fetal loss and mortality. During pregnancy, fetal cells including fetal DNA crossed the placenta and within maternal peripheral blood those valuable sources of the sex and genetics information fetuses. It is demonstrated fetal DNA in plasma and serum from healthy pregnant wo...

OBJECTIVE To assess the accuracy of fetal sex determination at 11-14 weeks of gestation. METHODS Fetal gender assessment by ultrasound was prospectively carried out in 172 singleton pregnancies at 11-14 weeks of gestation immediately before chorionic villus sampling for karyotyping. The genital region was examined in a midsagittal plane and the fetal gender was assigned as male if the angle o...

Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of...

Произведено определение пола плода в 433 образцах плазмы крови женщин, находящихся на 9 по 26 неделях беременности, из которых ген SRY был идентифицирован 217 (мужской пол), 216 отсутствовал (женский пол). Выделение фетальной ДНК спин-колонках и магнитных частицах использование пробирок типа CPDA оказались наиболее предпочтительны для определения плода. Зависимости гена от срока беременности ма...

The genetics of sex determination is a child of the twentieth century, which overturned the previously held view that sex was determined by the environment. The last quarter of the century witnessed an active search for sex-determining genes in mammals. Although successful, the modus operandi of these genes remained unknown, and the relationship between the sex-determining systems of mammals an...

OBJECTIVE To describe the clinical experience with noninvasive prenatal testing for fetal sex chromosomes using sequencing of maternal plasma cell-free DNA in a commercial laboratory. METHODS A noninvasive prenatal testing laboratory data set was examined for samples in which fetal sex chromosomes were reported. Available clinical outcomes were reviewed. RESULTS Of 18,161 samples with sex c...

Mutation analyses of patients with campomelic dysplasia, a bone dysmorphology and XY sex reversal syndrome, indicate that the SRY-related gene SOX9 is involved in both skeletal development and sex determination. To clarify the role SOX9 plays in vertebrate sex determination, we have investigated its expression during gonad development in mouse and chicken embryos. In the mouse, high levels of S...

Genes related to Dmrt1, which encodes a DNA-binding DM domain transcription factor, act as triggers for primary sex determination in a broad range of metazoan species. However, this role is fulfilled in mammalsbySry, anewlyevolvedgeneon theYchromosome, such that Dmrt1 has become dispensable for primary sex determination and instead maintains Sertoli cell phenotype in postnatal testes. Here, we ...