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Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome.
View Article and Find Full Text PDFFertility can be preserved after conservative cervical surgery. We report on a 29-year-old woman who was obese, para 0, and diagnosed with cervical insufficiency at the first trimester of current pregnancy due to a previous trachelectomy. She underwent laparoscopic transabdominal cervical cerclage (LTCC) for cervical cancer.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
February 2014
Objective: To present our experience of symptomatic cerebral cavernous malformations (CCMs) in pregnancy and to review the literature on the topic.
Methods: We retrospectively collected a case series of symptomatic CCMs during pregnancy or the puerperium. A literature search was performed to identify all similar reports.
Objective: Prospective assignment at 11 + 0 to 13 + 6 weeks of risk for late pre-eclampsia (PE) using eight logistic regression-based statistical models.
Methods: Five hundred and fifty-four pregnancies. Uterine artery pulsatility index, parity, body mass index, mean arterial pressure, pregnancy-associated plasma protein-A, free β-human chorionic gonadotrophin and maternal age, were combined to obtain 'a posteriori risk of PE'.
Objectives: The objectives of this study were (1) to evaluate if the elevation of maternal serum alpha-feto protein (MSAFP) and pregnancy-associated placental protein-A (PAPP-A) in the maternal blood after chorionic villous sampling (CVS) is associated with a higher preeclampsia (PE) rate and (2) to verify the clinical utility of the analytes elevation for predicting PE.
Methods: A prospective study on 106 subjects who underwent CVS was performed. At the time of CVS, two blood samples were obtained for MSAFP and PAPP-A dosage, the first just before the procedure, and the second one 30 min after the procedure.