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We conducted a study of five patients with congenital diaphragmatic hernia (CDH) in the department of antenatal diagnosis over a period of two years. Our study highlights the overall benchmarks for this disease and its management as well as the news on prenatal assessment of neonatal prognosis using Lung Over Head Ratio (LHR): ultrasound versus magnetic resonance imaging (MRI) in the third world. The purpose of this study is to evaluate the prognosis of these new-born babies and support parents of a fetus with diaphragmatic hernia. [ABSTRACT FROM AUTHOR]

Multicystic dysplastic kidney (MCDK) is the most common Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) in clinical practice. Its etiology and pathogenesis are still controversial and obstruction is a generally accepted causative assumption. Obstetric ultrasound is the gold standard for prenatal diagnosis and for the detection of other associated malformations. Prenatal management is based on ultrasound monitoring of pregnancy, of the disease, of the occurrence of other anomalies and of the amount of amniotic fluid. This study aims to report our experience in the Department of Gynecology-Obstetrics 2 at the University Hospital Hassan II-Fez in order to clarify the epidemiology of MCDK, highlight the role of obstetric ultrasound in positive and etiological diagnosis while describing the various sonographic appearances. It is essential to schedule for screening tests during pregnancy in order to assess the evolution of the disease diagnosed in the prenatal period, to implement a strategy in postpartum care and to establish a prognosis. [ABSTRACT FROM AUTHOR]

Amniotic band syndrome (ABS) comprises of a spectrum of complex congenital malformations mainly interesting the limbs, but even the craniofacial region and the thoracoabdominal axis. There are two major opposing pathophysiological theories: premature rupture of the amniotic sac (exogenous growth theory) would result in the formation of fibrous bands which would lead to strangulation, thus causing the observed abnormalities; the endogenous theory holds that this is a syndrome of vascular origin and that the bands have no causative role. Prognosis depends on the severity of malformations. We here report two cases of lethal malformations in order to discuss the challenges in the diagnosis and treatment of amniotic band syndrome. This study mainly aims to highlight the role of prenatal diagnosis in the therapeutic management of this embryo-fetopathy. [ABSTRACT FROM AUTHOR]

The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal...). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition.

Abstract: Objectives: The purpose of this study is to describe the diagnosis, the care and the prognosis of the fetuses with an antenataly diagnosed megacystis. Patients and methods: Six year retrospective study about 46 cases of megacystis (26 diagnosed during 1st trimester; 14 during 2nd trimester; 9 during 3rd trimester) referred in the prenatal fetal medicine unit of the Femme–Mère-Enfant hospital in Lyon (France). Results: The main aetiology is urethral occlusion, particularly for megacystis discovered during the 1st and the 2nd trimesters. Twenty-two terminations of pregnancy were performed (47.8%) and 6 pregnancies arrested spontaneously (13%). Eighteen children were born alive, but 2 died in neonatal period. Finally, 16 children survived (34.8%). Chromosomal abnormalities are frequent (22%). Discussion and conclusion: Antenatal discovery of a megacystis is a complex situation, and often of poor fetal prognosis. It requires a multidisciplinary approach to allow the concerned couple to be determined on the best care of this pregnancy. [ABSTRACT FROM AUTHOR]

Summary: The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n =155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy – either isolated or associated – and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (−17 %) (p <0.05). Nine diagnoses of CCA were corrected after birth or by postmortem examination. Improvement of prenatal diagnosis requires better quality of prenatal screening, with a more systematic study of dysmorphic features, a study of correlations between the type of CCA and the neurological prognosis, and more genetic studies. [Copyright &y& Elsevier]

Abstract: Duchenne muscular dystrophy (DMD) is a progressive and lethal disease involving a progressive loss of muscular strength, inherited by X-linked recessive transmission. A review of the literature does not reveal any typical psychological profile or personality type in DMD patients. The affected child is rarely told the diagnosis, although this failure has major consequences for his future ability to live with the disease throughout its progression. The progressive loss of mobility culminating in an inability to walk, the loss of the use of the upper limbs, and the multiple surgical interventions are all major hardships for the child. For the patient''s sisters, who are presumptive DMD carriers, it is important to consider a specialized genetics consultation if they are considering a pregnancy with a prenatal diagnosis and an interruption of pregnancy if the infant is a carrier. Finally, and despite the serious prognosis, it is important to help the child and his family to maintain hope, not by denying the illness, but by a progressive adaptation to the reality. [Copyright &y& Elsevier]

Human Cytomegalovirus (CMV) is the main cause of mental retardation and sensorineural hearing loss related to congenital infections. Justification of systematic screening for fetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when fetal infection has been diagnosed. Our aim was to review the current state of the knowledge about the CMV congenital infection and to highlight recent advances in the diagnosis as well as in the identification of prognostic factors. [Copyright &y& Elsevier]