22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.

Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn who presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias, and penile hypoplasia. We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound

Laparoscopic Adnexectomy for Ovarian Torsion during Late Pregnancy: Case Report of a Non-Conservative Treatment and Literature Analysis

Diagnosis of adnexial torsion is difficult during pregancy (1). The time of decision and laparoscopy is that of the risk of necrosis of the adnexa and, therefore, of the ovarian prognosis. The loss of an ovary can compromise the following fertility. Even if concerns related to laparoscopy in pregnant patients include a limited surgical field, with a risk of uterine injury and negative fetal effects of CO2 insufflation. Evidence base suggests that minimally invasive surgery can be safe and better than laparotomy for management of adnexal masses during late pregnancy with good postoperative and obstetric outcomes. If for most authors laparoscopy appears to become the best approach for ovarian torsion during pregnancy (2), nonetheless, the ideal surgical laparoscopic approach of adnexa in late pregnancy remains controversial. Since there is no technical gold standard to overcome surgical difficulties which could make laparoscopic procedures as real challenge in patients in second and third trimester (3); at least, in case of radical and non-conservative treatment, the risk for a first trimester of pregnancy is to remove the corpus luteum (1)