Twins prematurity--the influence of prenatal surveillance

OBJECTIVE: To evaluate the influence of the local prenatal surveillance of twin pregnancies in the obstetrical results. METHODS: A prospective cohort study of multiple pregnancies delivered over a period of 16 years in a tertiary centre was conducted. In this study 861 twin pregnancies were included. They were compared for obstetric complications, gestational age at delivery, mode of delivery and birthweight, according to the place of the surveillance. RESULTS: Of the 861 cases examined, the following obstetric complications were significantly different: metrorrhagia (p = 0.039), infections (p < 0.001), HELLP (p = 0.007), PROMPT (p < 0.001) and fetal death (p = 0.024). The mode of delivery was similar but occurred mostly ≤32 weeks (p < 0.001), the birthweight was mostly <2000 g and occurred more NICU admission (p < 0.001) when surveillance was outside the MPC-MDM. CONCLUSION: Our results demonstrate the crucial importance of prenatal surveillance be carried in a differentiated referral centers with specific/strict protocols or the urgent implementation of same protocols in all other places of surveillance, since this straight surveillance greatly reduces the occurrence of prenatal complications, mainly PROMPT, PTD.

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the resulting clinical symptoms varies according to the level of 21-hydroxylase activity. 21-Hydroxylase deficiency is usually caused by mutations in the CYP21A2 gene, which is located on the RCCX module, a chromosomal region highly prone to genetic recombination events that can result in a wide variety of complex rearrangements, such as gene duplications, gross deletions and gene conversions of variable extensions. Molecular genotyping of CYP21A2 and the RCCX module has proved useful for a more accurate diagnosis of the disease, and prenatal diagnosis. This article summarises the clinical features of 21-hydroxylase deficiency, explains current understanding of the disease at the molecular level, and highlights recent developments, particularly in diagnosis.