Discordance between karyotype from amniotic fluid and postnatal lymphocyte cultures.

Discordance between karyotype seen from amniocentesis and from neonatal blood is a very unusual condition with different possible causes.We present a case of discordance between prenatal cytogenetic diagnosis from amniotic fluid and post-natal cytogenetic diagnosis from lymphocyte cultures.

The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.

Objective: The aim of the study is to evaluate the role of Denaturing High Performance Liquid Chromatography (DHPLC) in the second level screening of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.

Methods: A 9-month prospective study, between June 2008 and March 2009 at Artemisia Fetal Medical Centre, included 3829 samples of amniotic fluid collected from women undergoing mid-trimester amniocentesis.The genetic diagnosis of CF was based on research of the main mutations of the CFTR gene on fetal DNA extracted from the amniocytes, (first level screening) using different commercial diagnostic systems.

Prenatal measurement of testicular diameter by ultrasonography: development of fetal male gender and evaluation of testicular descent.

Prenatal ultrasonography has evolved through advancements in imaging technology and observer experience. The purpose of the present study was to evaluate fetal testicular descent and diameter in relation to gestational age. A prospective cross-sectional study on 331 fetuses from an unselected population underwent a detailed assessment of testicular descent and diameter at 20-40 weeks' gestation by means of transabdominal sonography (91.

Spermatozoa with chromosomal abnormalities may result in a higher rate of recurrent abortion.

Objective: To determine whether sperm aneuploidy can lead to abortion.

Design: Clinical study.

Setting: Couples with reproductive problems evaluated in a private diagnostic laboratory.

Blood contamination of amniotic fluid after amniocentesis in relation to placental location.

The aim of the present study was to evaluate blood contamination of the amniotic fluid collected in 20 patients undergoing a second amniocentesis performed 2 weeks after a first procedure that had failed due to Pseudomonas aeruginosa contamination of the cell cultures. Red blood cell and haemoglobin concentrations in the amniotic fluid were significantly higher in patients who had undergone a transplacental procedure compared with patients in whom the placenta was not traversed with the needle. For both groups, blood contamination of the amniotic fluid was significantly higher compared with a control group of 20 patients undergoing amniocentesis for the first time.

Transplacental amniocentesis: is it really a higher-risk procedure?

The aim of this study was to compare transplacental with non-transplacental amniocentesis in terms of related complications. Between January 1991 and December 1992, 4564 genetic amniocenteses were performed in 4527 patients (4491 singleton, 35 twin, and one triplet pregnancy) at 15-16 weeks of gestation. All the procedures were ultrasound-guided and performed by the same operator.

Antenatal ultrasonographic diagnosis and management of fetal ovarian cysts.

Objectives: The aim of the present study was to evaluate the outcome of fetal ovarian cysts in relation to their ultrasonic appearance and size.

Methods: Forty-two fetal ovarian cysts were diagnosed in 41 fetuses and followed with serial ultrasonograms in utero and after birth until spontaneous or surgical resolution.

Results: Twelve fetal ovarian cysts that were echogenic at diagnosis and six that were anechoic at diagnosis but became echogenic at subsequent prenatal sonograms were all submitted to postnatal surgery.

Ultrasound-guided aspiration of ovarian endometriotic cysts.

Objective: To evaluate the outcome of ultrasound-guided aspiration of ovarian endometriotic cysts.

Method: Thirty-four patients with ovarian endometriomas were submitted to transvaginal (28 patients) or transabdominal (6 patients) ultrasound-guided aspiration of the cyst content, and then followed with serial ultrasonograms for a mean period of 12 months (range 6-20 months).

Result: The procedure was successful in all cases, and no early complications occurred.

Ovarian development of the female child and adolescent: I. Morphology.

Ovarian morphology of 180 randomly selected females, aged 8-21, was investigated, utilizing standard sector scanning ultrasound techniques, at -1 year (1 year before menarche), year 0 (menarche) and years +1 to +8 (1-8 years postmenarche). According to strict morphologic criteria, seven ovarian patterns were recognized which varied in dominance with age in reference to menarche. Prior to menarche a multifollicular ovarian pattern (Type 1) dominates which after menarche is substituted by a predominantly active ovarian pattern (Type 5).