Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing.

We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe intrauterine growth retardation. After extensive counseling, the couple decided to proceed with an invasive diagnosis via amniocentesis.

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies.

Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications.

Objective: Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis.

Methods: From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal samples. The rates of concordant results between the two methods were evaluated and the rates of clinically significant chromosomal abnormalities undetected by QF-PCR were assessed.

Assessment of nuchal translucency thickness and the fetal anatomy in the first trimester of pregnancy by two- and three-dimensional ultrasonography: a pilot study.

Aim: To evaluate the use of three-dimensional ultrasonography (3D) as an alternative for examining fetal anatomy and nuchal translucency (NT) in the 1(st) trimester of pregnancy.

Method: Prospective study of 199 low risk pregnant women undergoing 1(st) trimester ultrasound scan for fetal anomalies. The NT and fetal anatomy were evaluated by three-dimensional (3D) ultrasonography after the standard two-dimensional (2D) examination.

First trimester 3D volumetry. Association of the gestational volumes with the birth weight.

Objective: To evaluate the three dimensional ultrasound (3D) in the volume assessment of the gestational contents during the 1st trimester of pregnancy. Our aim was to correlate the embryo, gestational sac, and placenta volume with the birth weight. To monitor the increase of these volumes according to the gestational age.

Selective reduction in twins and multiple pregnancies.

The number of multiple pregnancies has increased, mainly due to the uncontrolled use of the assisted conception techniques. Multifetal pregnancy reduction (MFPR) has been used to reduce the risks associated with these high-risk pregnancies. It is performed in the first trimester of pregnancy by transabdominal injection of potassium chloride into the fetal heart.

Second trimester amniocentesis in assisted conception versus spontaneously conceived twins.

Objective: To compare the outcome of amniocentesis in twins conceived with assisted reproduction technology (ART) versus spontaneously conceived twins.

Design: Retrospective analysis of case records between 1993 and 2006.

Setting: University-affiliated tertiary center for fetal medicine.

Association between abnormal uterine artery Doppler flow velocimetry, risk of preeclampsia, and indices of arterial structure and function: a pilot study.

Preeclampsia increases the risk of future cardiovascular disease. The association between abnormal uterine artery Doppler flow velocimetry, risk of preeclampsia, and indices of arterial structure and function is investigated in this study. The carotid intima-media thickness of 34 pregnant women with normal uteroplacental flow was compared with 30 women with abnormal uterine artery Doppler analysis during the transvaginal assessment of the uterine arteries at the routine anomaly scan (20-23 weeks of gestation).

Increasing the noninvasive management of rhesus isoimmunization.

Objective: To determine the clinical outcome of isoimmunized pregnancies managed by middle cerebral artery peak systolic velocity (MCA-PSV) in an intention-to-treat study.

Method: Rhesus isoimmunized pregnancies were managed with serial ultrasound and Doppler studies at 7-day intervals up to 34 weeks of gestation, between 2001 and 2005. Invasive diagnostic and therapeutic procedures were carried out when MCA-PSV was indicative of moderate or severe anemia.

Management of pregnancy in adolescence complicated by acute lymphoblastic leukemia.

The management of the common acute lymphoblastic leukemia in pregnancy has been controversial. We report a case of a 16-year-old primigravida with acute lymphoblastic leukemia, first presented in pregnancy, which was treated with aggressive chemotherapy protocols. Full remission of the disease was achieved.

First trimester ultrasound diagnosis of congenital diaphragmatic hernia.

Congenital diaphragmatic hernia is a rare structural defect, usually diagnosed in the second or third trimester of pregnancy. We present here a case of left-sided diaphragmatic hernia diagnosed at 12 weeks of gestation and a short review of published reports on first trimester diagnosis of this defect. Ultrasound diagnosis of congenital diaphragmatic hernia cases, with early herniation of the viscera in the thorax, is feasible during the first trimester.

Maternity unit performance index. A novel approach for evaluation of the changing obstetric practice in a single maternity unit.

Objective: To audit obstetric outcomes for primiparous laborers in order to provide accurate information to the population we serve. To establish a simple index by which a maternity unit's performance can be compared over time and to other units. This index is named, maternity unit performance index (MUPI).

Uterine prolapse complicating pregnancy.

Uterine prolapse is extremely rare during pregnancy. However in some cases significant complications may develop. We report a case of uterine prolapse which developed during pregnancy.

Emergency obstetric hysterectomy.

Background: All cases of obstetric hysterectomies that were performed in our hospital during a seven-year study period were reviewed in order to evaluate the incidence, indications, risk factors, and complications associated with emergency obstetric hysterectomy.

Methods: Medical records of 45 patients who had undergone emergency hysterectomy were scrutinized and evaluated retrospectively. Maternal age, parity, gestational age, indication for hysterectomy, the type of operation performed, estimated blood loss, amount of blood transfused, complications, and hospitalization period were noted and evaluated.

A case of heterotopic pregnancy in the absence of risk factors. A brief literature review.

Objective: To reinforce the risk of heterotopic pregnancy in a natural cycle when intrauterine pregnancy and abdominal pain co-exist.

Method: A single case report with a literature review.

Results: Our case was associated with significant haemorrhage, laparotomy and salpingectomy.

Prenatal diagnosis and management of fetal pharyngeal teratoma: a case report and review of the literature.

We present a case of a fetal pharyngeal teratoma, which was diagnosed at 21 weeks' gestation. At the time of examination, a mass of mixed echogenicity was detected that protruded through the mouth. During a second examination 3 weeks later, the tumor had increased in size, and a severe polyhydramnios had developed.