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Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age., Methods: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who requested first trimester combined test and only in case of screen-positive result underwent invasive testing (group A); patients undergoing chorionic villous sampling or amniocentesis as first investigation (group B). The following outcome variables were compared: antenatal detection of trisomy 21, occurrence of trisomy 21 at birth, miscarriage rate, hospitals' costs., Results: 4527 women were included. Of these, 534 (11.80%) underwent T21 screening whereas 3993 (88.20%) requested primary invasive testing. In group A, 64 combined test were positive (11.99%) and 8 trisomy 21 cases were diagnosed (1.50%); the loss of euploid fetuses after invasive procedure was 4.55% (2/44). No false-negative case was observed. In group B 57 cases of trisomy 21 were diagnosed (1.43%), and pregnancy loss rate of chromosomally normal fetuses was 0.45% (17/3806). The estimated cost was, respectively, 67.720€ for the primary screening versus 1.996.500€ for direct prenatal diagnosis., Conclusion: First trimester screening of trisomy 21 is highly accurate and cost saving among women ≥35.

Objective: To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy., Methods: All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed., Results: In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy., Conclusions: In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively., (© 2015 S. Karger AG, Basel.)

The article presents a case study of a pregnant woman diagnose with vertebral deformity in the thoracolumbar area using two-dimensional (2D) and three-dimensional (3D) ultrasound imaging in saggital, coronal, and transverse plane. She drops further assessment such as fetal ultrasonic imaging and decided to uphold with pregnancy, then the boy was born with no spinal deformity.

An abstract of the article " Prenatal diagnosis of mature teratoma in an undescended testicle: two-, three-dimensional ultrasound and Doppler features" by A. Youssef and colleagues is presented.

An abstract of the article "Prenatal diagnosis vs 1st trimester screening of Trisomy 21 among pregnant women aged 35 or more" by T. Ghi and colleagues is presented.