Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13).

Introduction: In 2008, Hultén et al hypothesized that maternal ovarian trisomy 21 mosaicism might be the primary causative factor for fetal Down syndrome. We hypothesize that this theory can be extended to trisomy 13.

Material And Methods: We collected fetal ovarian tissue from seven female fetuses between 16 and 23 gestational weeks, following the termination of the pregnancy for non-genetic reasons.

[Longer oral contraception history as a possible preventive factor against fetal trisomy 21 in advanced maternal age pregnancies].

Down syndrome is the most common autosomal chromosomal abnormality. According to the classical interpretation, it is the result of meiotic nondisjunction. Its occurrence is more common in advanced maternal age.

[Diverticulosis and diverticulitis of the vermiform appendix. Report of a case and review of the literature].

Diverticulitis of the vermiform appendix is a rare disease with clinical features often similar to conventional acute appendicitis. The importance of appendiceal diverticulosis is the fact that it can lead to an early and a higher incidence of perforation and therefore a higher mortality rate, in contrast to acute appendicitis alone. In this study we present the clinicopathology, diagnosis and therapy of the disease with a review of the literature.

Effect of extended oral contraception use on the prevalence of fetal trisomy 21 in women aged at least 35 years.

Objective: To study factors influencing the number of ovulations in reproductive life as risk factors for common trisomies.

Methods: The present observational study examined data from genetic counseling sessions performed at the 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary, between September 1, 2013, and September 1, 2015, and retrieved data on patients of advanced maternal age (≥35 years) who had fetal trisomy 21, 18, or 13 confirmed. Consecutive patients of advanced maternal age with genetic amniocentesis-confirmed healthy fetal karyotypes were also included as a control group.

[Rare case of a pregnancy in a woman with paroxysmal nocturnal hemoglobinuria. Case report].

Paroxysmal nocturnal hemoglobinuria is a rare hematological disease. It is associated with increased maternal and fetal complications to such an extent that pregnancy has been considered relatively contraindicated in woman with paroxysmal nocturnal haemoglobinuria. Recently, eculizumab, a monoclonal antibody, has been shown to decrease complications during pregnancies.

[Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidies].

The development of the new generation sequencing techniques brought a new era in the field of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some first generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cell-free DNA based method requiring advanced sequencing procedures.

Surgical treatment of lymph node metastases in stage IB cervical cancer. The laterally extended parametrectomy (LEP) procedure: experience with a 5 year follow-up.

Introduction: In 2003, we published our preliminary experience with the use of an operative technique (laterally extended parametrectomy, the LEP procedure) without adjuvant therapy, in the treatment of 29 stage IB, cervical cancer patients with pelvic lymph node metastases. In our present paper, by an extended recruiting period, with a completed 5 year follow up, we studied the outcome of LEP operations, used with the same indications.

Methods: In 70 out of 106 LEP-Wertheim operated patients, no adjuvant treatment was used.