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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]

INTRODUCTION: Genetic diseases and congenital anomalies place a significant burden on the health of new-borns and their mothers. Despite the availability of a variety of prenatal screening tests, mothers´ knowledge has been documented to determine uptake. This study aims to assess the knowledge of pregnant women about birth defects and the associated correlates with regard to willingness to do prenatal screening. METHODS: a cross-sectional descriptive study was conducted among 422 antenatal mothers, recruited sequentially as they attended antenatal clinic at the Lagos University Teaching Hospital. An interviewer-administered questionnaire was used to determine their knowledge of congenital birth defects and willingness to do prenatal testing. RESULTS: majority of the participants (92.2%) had at least secondary education. The mean total knowledge score of the respondents was 63%. Age and knowledge scores were not significantly correlated (r=-0.071, p=0.14). Being employed predicted higher knowledge scores (95% CI: 0.09, 2.09, p=0.03). Respondents who had primary school education and those who replied "I don´t know" to willingness to test had significantly lower knowledge scores (95% CI:-15.01, -1.19, p=0.02 and 95% CI:-4.52, -0.68, p=0.01 respectively). Majority (79.1%) of the respondents were willing to undergo testing. Respondents´ level of education was significantly associated with willingness to test (p=0.03). CONCLUSION: the observed knowledge gaps were considerable. There is need for improvement in education, the empowerment of women and access to quality healthcare including prenatal screening.

Chorioangioma is the most common type of placental tumor. A primigravida woman was noted on routine scan at 21 weeks of gestation to have a placental mass measuring 1.8 x 2.2cm. A detailed ultrasound scan revealed a well circumscribed, hypoechoic lesion protruding into the amniotic cavity; hence a preliminary diagnosis of placental chorioangioma was made and close prenatal surveillance was scheduled. At 34 weeks of gestation, the mass was measuring 6.27 x 5.38cm. The patient experienced reduced fetal movements at 37 weeks gestation. A small-for-gestational age but normal female neonate was delivered by caesarean section. Histopathological analysis of the placenta confirmed the diagnosis. According to our case, a giant placental chorioangioma may have a favorable outcome without any medical intervention.

Fetal brain tumors are rare. Teratoma is the most common histological type. Their evolution is often fatal. Ultrasound and magnetic resonance imaging allows for early antenatal diagnosis. However, definitive diagnosis is based on histologic examination. Placental metastases are rare and complicate more often the course of malignant melanomas, hemopathies, breast and bronchial cancers. In pregnant women who have recently had a cancer, anatomopathologic examination of the placenta should be requested to detect tumor invasion. Similarly, neonatal assessment and extended pediatric follow-up are required. The establishment of registries collecting all cancer cases diagnosed among pregnant woman is essential for a better understanding of the epidemiology of these cancers as well as of maternal and paediatric prognostic factors. We here report a case of fetal brain tumor in a woman with recurrent ovarian cancer. [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]

The living fetus has become object of study of medicine only recently, i.e., since the 1960s. The development of prenatal testing and diagnosis has allowed couples and pregnant women to be offered tests that are designed to identify serious in utero conditions, that is, conditions that are considered as incurable at the time of diagnosis. The scientific advances in prenatal diagnosis have also given rise to serious ethical reflections. Jonathan Glover makes a major contribution to this reflection by emphasising the importance of taking into account both the direct consequences and the 'side-effects' of a particular practice. This paper first discusses Glover's perspective on the development of prenatal diagnosis, which he developed over the course of several decades, and focuses then on our current context which is characterized by a so-called "non-invasive" prenatal testing and the development of genomics. Using Glover's approach, which pays particular attention to the effects of a decision, this paper identifies ethical issues that are particular to our time. The paper concludes that prenatal testing, despite being "non-invasive" from a biological point of view, still raises many ethical issues. [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]

Prenatal diagnosis, care and management are involved in mortality and morbidity of every country. A high prevalence is estimated in Africa. We use bibliometrics and mapping tools to explore the area studies and countries involved in scientific research on prenatal diagnosis, care and management in Africa. We used two databases: Web of Science and Pubmed. We extracted sets of data as publication years, organizations, funding agencies, countries from Web of Science core collection database and Medical Subject Headings from Pubmed database. We mapped the data using VOSviewer. We performed keyword analysis. We accessed 463 articles published between 1956 and 2015 in Web of Science Core collection Database and 3372 from Pubmed database. The majority of which were after 2004. The main countries involved in research on prenatal field in Africa were the USA, the United Kingdom, France and South Africa. Two main keywords are relevant: fetal alcohol syndrome and HIV. Prenatal diagnosis, care and management are leaded by South Africa. Some new countries are merging such as Rwanda. The main fields are fetal alcohol syndrome and HIV. It is funded by NIH but also Cape Town University.

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.

Il s'agit d'une patiente G2P2, admise en travail à un terme de 38 SA+3 jrs. L'examen trouve une patient à dilatation complète, poche des eaux rompues, et une présentation de front fixée. L'enregistrement du rythme cardiaque fétal était interprété comme normal. La patiente a été césarisée pour une présentation de front. L'examen en salle de naissance trouve un nouveau-né de sexe féminin, PN= 3Kg700, en détresse respiratoire, l'intubation n'a pas été possible du fait de l'hyperextension (A). Une radiographie a été réalisée montrant une malformation thoraco-vertébrale dorsale impossibilité de spécifier les vertèbres cervicales et une cyphose rachidienne dorsale (B). Le nouveau-né est décédé à H5 de vie.

Collodion baby is a severe form of congenital ichthyosis detected in neonatal period. It often has a characteristic clinical picture. When evolution is not fatal; it often causes dry Ichthyosis. Thanks to molecular biology techniques, prenatal diagnosis can be made since the 10-12 weeks of amenorrhea, allowing genetic counselling. Prognosis depends on several parameters, namely the degree of the initial manifestation, the duration of desquamation, as well as underlying Ichthyosis This rewiew of the literature which aims to clarify the diagnostic aspects and therapeutic treatment as well as the role of the antenatal diagnosis is based on a new observation of a collodion baby born at 34 weeks, of a parturient woman having an index case and of infant deaths occurring in the first day of life. [ABSTRACT FROM AUTHOR]

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.

Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea. [ABSTRACT FROM AUTHOR]

agement of persons with SCD. We emphasize the critical importance of self-management, especially self awareness, in assuring a good quality of life for persons with SCD. We believe such an approach is cost-effective, and consistent with sound ethical principles and good conscience.

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This article presents some results from a clinical ethics study that took place between 2011 and 2014. The study aimed at understanding people’s motivations to terminate or continue a pregnancy, once a prenatal diagnosis that revealed a potential genetic disease was established. This article focuses not only on the point of view elaborated by people that consulted the medical team but also their decision-making process. The latter is partly grounded on elements conceived as decisive for any type of pathology: personal, couple and family well-being ; the quality of life of the child to be born. It also relates to elements that shape the background of the decision: social stigmatization of deficiency and religious or spiritual orientation. The analysis shows that, to a certain extent, a specific place is devoted to the pregnant woman in this decision-making process. Finally, the article insists upon the various aspects of the ordeal faced by these people, which is both a personal, intimate and family ordeal, but also a social one. Indeed, with the ongoing debate on eugenics prevalent in French society, people who intend to take responsibility for their decision find themselves faced with a legal context in which the medical team has the final legal say concerning the medical termination of the pregnancy.