METHOD(S): The study was done on 100 amenorrheic patients and 100 eumenorrheic controls with normal karyotype. Their finger tip patterns, hypothenar patterns, simian crease, Sydney line, interdigital area patterns (qualitative parameters of DGs) were analyzed. Printing method was used. The observations were correlated not only between subjects and controls but also between subjects with normal ...

We conducted a case study through the images of an omphalocele diagnosed in the first trimester of pregnancy in a Prenatal Diagnostic Unit in order to highlight the central role of early detection of foetal malformations. We here report the case of a 42year old G2P1 patient who underwent her first ultrasound at 12w + 4d of pregnancy showing an omphalocele (A,B,C,D). The patient was informed abo...

Background & Aims: Induced pluripotent stem cells (iPSCs) have the capability to undergo unlimited selfrenewal and differentiation into all cell types in the body. These cells are artificially derived from a nonpluripotent cell, typically human dermal fibroblasts (HDFs). The study of cytogenetic stability of these cells, in order to use iPS cells and apply studies in therapeutic applications, i...

In a previous retrospective study on the physical and psychomotor development of 868 children born after positive maternal serum triple test screening with normal prenatal karyotype, we found an increased incidence of complex multiple congenital anomalies syndromes (1.95%). In the present retrospective study, we collected data on 1799 children born after a pregnancy with a positive maternal ser...

We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 → 4.08 ng/mL). The tall stature is remarkable, because the mean adult height of Caucasian 48,XXYY patients is 181 c...

OBJECTIVES The Amniocentesis Results: Investigation of Anxiety (ARIA) trial tested two hypotheses: first, that giving amniocentesis results out on a fixed date alters maternal anxiety during the waiting period, compared with a policy of telling parents that the result will be issued 'when available' (i.e. a variable date), and secondly, that issuing early results from a rapid molecular test alt...

Objective: The purpose of this study is to show distribution of risk in pregnancies which underwent first trimester combined tests, and investigate general demographic and clinical characteristics of patients, underwent invasive diagnostic tests after screening tests. Methods: Combined test data of first trimester screening in 20082011 were evaluated retrospectively and cross-sectional. After t...