Reaching a firm diagnosis is vital for the long-term management of a patient with a
difference or disorder of sex development (DSD). This is especially the case in XY DSD …

Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell‐free
DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either …

Objectives: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex
chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and …

Objective The objectives of this study were to characterise genotype‐phenotype
discordance identified in the routine clinical setting and to explore the associated diagnostic …

Objective Non-invasive prenatal screening (NIPS) utilizes circulating cell-free DNA (cfDNA)
to screen for fetal genetic abnormalities. NIPS is the first widely-available prenatal screen to …

Extended Summary Introduction Differences/disorders of sex development (DSD) can be
detected at different ages, including prenatally. The recent implementation of prenatal …

Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …

This chapter explores the geneticisation process of intersex disorders/difference of sex
development (DSD) bodies in Israel. On the one hand, this process consists of the discovery …

ABSTRACT I ntroduction: Prenatal cell-free DNA screening for common fetal aneuploidies
has rapidly changed the paradigm of prenatal care. Despite its advantages compared to …

Fetal sex discordance is an entity that is becoming more frequent due to the expansion of
the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500–2000 …