Diagnostic approach in prenatally detected genital abnormalities

Fetal vulvar cysts with spontaneous resolution

“…In the first place, there was a second trimester ultrasound describing normal female genitals. Furthermore, there was no enlarged phallic structure, abnormal/fused labia,17 or enlarged wrinkled adrenals, which are typical of congenital adrenal hyperplasia,18 the most common cause of ambiguous genitalia 3. The importance of the exclusion of such a diagnosis is related to the prevention of potential life threatening conditions, such as the adrenal crisis related to congenital adrenal hyperplasia19 and parental counselling.…”

Prenatal Diagnosis of Penoscrotal Transposition With 2- and 3-Dimensional Ultrasonography

“…Approximately 13% of all children with penoscrotal transposition have a family history; thus, it may be an autosomal recessive disease 5 , 6 . The putative responsible gene is 13q 7 , 8 . Chromosome and microarray analyses are important for obtaining precise information on the etiology and thus establishing the prognosis.…”

Normal First Trimester of Pregnancy

“…Accuracy of gender assignment in higher in male fetuses and accuracy increases with increasing gestational age, with near 100 % reliable gender identifi cation possible at 13 + 6 weeks. Early assignment of fetal gender may be useful in decision-making with regards to invasive testing, such as CVS, in patients at increased risk of sexlinked disorders [ 103 ]. It should be noted that fetal sex determination using cell-free fetal DNA in maternal plasma is increasingly performed in pregnancies at increased risk of X-linked genetic disorders or congenital adrenal hyperplasia.…”