Thyroid physiology and common diseases in pregnancy: review of literature

Thyroid diseases are common during pregnancy and an adequate treatment is important to prevent adverse maternal and fetal outcomes. Subclinical diseases are very frequent but not easily recognized without specific screening programs. In this article we try to summarize the knowledge on the physiologic change of the thyroid and pathological function during pregnancy; we also try to describe the best way of diagnosis and treatment of thyroid dysfunction

Epidemiology and risk factors of amniotic band syndrome, or ADAM sequence

Amniotic band sequence (ABS) is the term applied to a wide range of congenital anomalies, most typically limb and digital amputations and constriction rings, that occur in association with fibrous bands (1). These alterations may be associated or not with cutaneous and visceral abnormalities. This work, which is a literature review, examines several studies that relate to cases of amniotic band syndrome (SBA). In particular, our attention was focused on the causes and pathogenesis of the SBA. These for the most part are still unknown, but from what we observe in different jobs, are due to a mechanism of vascular damage. Therefore in this paper we examine chemical risk factors, like smoking, drug use, maternal hyperglycemia, mechanical risk factors such as the puncture of the amniotic sac after amniocentesis. We also speak of the altitude as a risk factor related to blood pressure, of the increased incidence of disease in primigravid, in women with a low level of education, in which the pregnancy was not planned, and then we talk of a higher incidence in young fathers and of the role of familiarity

Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH

Objective: a fetus with a ring chromosome 20 is presented. Methods: at 16 weeks’ gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. Results: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region. Conclusion: this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis