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Introduction: in Africa, genetic diseases and congenital anomalies remain a significant source of morbidity and mortality. Existing data suggests a gap in the use of prenatal tests among pregnant women to better inform decision making. We examined relationships of socio-demographic factors with willingness to terminate affected pregnancies, and the use of, knowledge of, and attitudes towards prenatal screening/diagnostic tests. Methods: this was a cross-sectional descriptive study of pregnant women who attended antenatal clinics at the Lagos University Teaching Hospital (N = 422) selected by convenience sampling. Responses were obtained with assisted self-administered structured questionnaires. Results: mean ± S.D. age of the respondents was 32.5 ± 5.3 years. The majority of the participants (92.2%) had at least a secondary education. Ultrasound scans in the second trimester were the most frequently used test (39.1%). Only 77 (18.2%) of the respondents indicated willingness to terminate affected pregnancies. The majority of the respondents had fair knowledge and good attitude scores. Knowledge and attitude scores were significantly correlated (r = 0.25, p < 0.001). Compared to married women, being single was associated with a 2.62-point lower knowledge score (95% CI: -4.63, -0.62, p = 0.01). Compared to women who responded “no” when asked if they were willing to terminate an affected pregnancy, women who responded “maybe” had a 0.81-point lower attitude score (95% CI: -1.45, -0.17, p = 0.01). Conclusion: our results suggest important sociodemographic differences in women´s knowledge/ behaviours towards prenatal diagnostic tests. Further research is needed to explore these relationships and broader pregnancy-related ethical beliefs among pregnant women in Lagos. [ABSTRACT FROM AUTHOR]

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 clinics at the Lagos University Teaching Hospital. An interviewer-administered questionnaire was used to determine their knowledge of 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. [ABSTRACT FROM AUTHOR]

une oligoamnios sévères. Après avoir écarté les causes les plus fréquentes: l'iso-immunisation (Coombs indirecte négatifs), les infections (sérologies négatives) sans pouvoir disposer d'un caryotype, en raison du refus de la patiente, les résultats de l'échographie nous ont fait réfléchir à la possibilité d'un hydro-foetal secondaire au syndrome CHAOS, étant l'imagerie pathognomonique de l'hypertrophie pulmonaire avec inversion ou convexité des diaphragmes. Une IRM a été demandée montrant un probable syndrome CHAOS associé à d'autres malformations: atrésie laryngée, microphtalmie avec hypertélorisme et déviation de la cloison nasale avec absence de visualisation du tissu thymique, non identification claire de la vessie, absence de rein droit et un rein gauche hypoplasique. L ́évolution de la grossesse a été marqué par la survenue À la 24e semaine d ́aménorrhée un accouchement prématuré qui a donné la naissance d ́un nouveau- né avec un poids de naissance de 1475g, polymalformés présentant une ambiguïté sexuelle, avec un abdomen distendu et une polydactylie. Le nouveau-né est décédé à 3 min du post partum. Un caryotype était réalisé montrant un profil 46XX. fetal hydrops secondary to CHAOS syndrome, because of pathognomonic signs of pulmonary hypertrophy with inverted or convex diaphragm. MRI was requested; it suggested CHAOS syndrome associated with other malformations: laryngeal atresia, microphthalmia with hypertelorism and deviation of the nasal septum with lack of visualization of the thymic tissue, no clear identification of the bladder, absence of right kidney and hypoplastic left kidney. The outcome of pregnancy was marked by premature labour at the 24th week of amenorrhea. The baby had a birth weight of 1475g, polimalformations such as sexual ambiguity, distended abdomen and polydactyly . The newborn died 3 min after birth. Karyotyping was performed which showed 46XX. [ABSTRACT FROM AUTHOR]

Trisomy 18 is a chromosomal disease, caused by the presence of a supernumerary chromosome 18. Mortality among infants with trisomy 18 is high, secondary to lethal malformations associated with this syndrome. The purpose of this study was to describe the clinical and cytogenetic features of these patients, as well as the role of genetic counselling. We conducted a cross-sectional descriptive study over a 5-year period, from July 2015 to April 2019. The study involved, patients followed up in the Department of Medical Genetics at the University Hospital Center Ibn Rochd of Casablanca, having abnormalities suggestive of trisomy 18, then confirmed by cytogenetic study. The study enrolled 5 patients, 3 girls and 2 boys (female predominance; sex-ratio = 0,67) with clinically suspected Edward’s syndrome, then confirmed by cytogenetic study. The mean age at diagnosis was 37.40 ± 23.98 days (9 days-2 months). Trisomy 18 was clinically suspected in two cases based on facial dysmorphism and malformative syndrome, a recognizable pattern of chromosomal abnormality. Two patients were hospitalized in the intensive care unit for decompensated heart failure associated with congenital heart disease, while one patient had neonatal respiratory distress associated with polymalformative syndrome at diagnosis. Cytogenetic study confirmed the diagnosis of free and homogeneous trisomy 18 in five patients, then genetic counselling was performed. The prevalence of trisomy 18 is variable. Global prevalence is estimated at 1/6000 live births, females are mostly affected. The diagnosis of trisomy 18 should be suspected at birth in newborns with typical craniofacial dysmorphism, arms lifted in supplication and permanent flexion of the fingers, the index finger overlapping the 3rd finger, the little finger overlapping the 4th finger. There are several malformations associated with trisomy 18. This syndrome should be also suspected in the antenatal period in patients with abnormalities on obstetric ultrasound. Moreover, survival is low and only one in 10 newborns reach the first year of life. [ABSTRACT FROM AUTHOR]

Vasa previa is characterised by unprotected umbilical vessels that are crossing the internal cervical os or lying close to it. When vasa previa is not detected during antenatal period, the perinatal outcome could be grievous. Ultrasound is the modality of choice in detection of vasa previa. Despite the increasing availability of ultrasound in modern times, its use in diagnosing vasa previa still remain very low in Africa. We present the sonographic findings and perinatal outcomes of three cases of vasa previa which were detected antenatally within a period of nine months in an African setting. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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]

Introduction: different diagnostic tools are available to evaluate endometrial focal lesion such as hysteroscopy, sonohystrography and transvaginal ultrasound. The present study aimed to determine the diagnostic value of saline infusion sonohystrography (SIS) in diagnosis of intrauterine lesions in women with Abnormal Uterine Bleeding (AUB). Methods: this cross-sectional study recruited 100 married women with chief complain of AUB referred to gynecologic clinics at the Amir Al-Momenin hospital, Semnan, Iran from March 2014 to February 2016. All participants were in the reproductive age and post-menopausal period that showed abnormal endometrial thickness or endometrial focal lesions through transvaginal ultrasound. Participants underwent SIS, hysteroscopy plus focal lesion resection and endometrial biopsy in order. The gold standard was the histopathology of endometrial specimen reported by pathologist. Results: mean±SD age of women was 41.2±11.3 years. To diagnose the overall focal lesions, sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the SIS were 79.6, 89.1, 89.6, and 78.8% respectively. These figures were 75.0, 87.5, 82.5 and 81.7%, respectively to diagnose polyps. The SIS sensitivity, specificity, PPV and NPV values to diagnose the myomas were 60.0, 97.8, 75.0, and 95.7% respectively. Conclusion: findings show that, SIS probably is a proper method for detecting endometrial focal lesion including polyps and myomas. Future studies may help to define further advantages of this procedure. [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. [ABSTRACT FROM AUTHOR]

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]

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]

Introduction: Fetal head descent is used to demonstrate the maternal pelvis capacity to accommodate the fetal head. This is especially important in low resource settings that have high rates of childbirth related maternal deaths and morbidity. This study looked at maternal height and an additional measure, maternal pelvis height, from automotive engineering. The objective of the study was to determine the associations between maternal: height and pelvis height with the rate of fetal head descent in expectant Ugandan mothers. Methods: This was a cross sectional study on 1265 singleton mothers attending antenatal clinics at five hospitals in various parts of Uganda. In addition to the routine antenatal examination, each mother had their pelvis height recorded following informed consent. Survival analysis was done using STATA 12. Results: It was found that 27% of mothers had fetal head descent with an incident rate of 0.028 per week after the 25th week of pregnancy. Significant associations were observed between the rate of fetal head descent with: maternal height (Adj Haz ratio 0.93 P<0.01) and maternal pelvis height (Adj Haz ratio 1.15 P<0.01). Conclusion: The significant associations observed between maternal: height and pelvis height with rate of fetal head descent, demonstrate a need for further study of maternal pelvis height as an additional decision support tool for screening mothers in low resource settings. [ABSTRACT FROM AUTHOR]

The concern of obstetric and surgical teams is when diagnosis of omphalocele, the care of the newborn and the prognosis of the malformation, mainly linked to the existence of associated malformations or chromosomal abnormalities. In our case of isolated omphalocele, the overall prognosis was good. [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. [ABSTRACT FROM AUTHOR]

Extralobar pulmonary sequestrations (ELS) are masses of non-functioning lung tissue that are supplied by an anomalous systemic artery and do not have a bronchial connection to the native tracheobronchial tree. On prenatal ultrasonography, an ELS appears as a well-defined echodense, homogeneous mass. Detection by color flow Doppler ultrasonography of a systemic artery from the aorta to the fetal lung lesion is a pathognomonic feature of fetal ELS. MR imaging may help in the diagnosis of pulmonary sequestration by demonstrating a solid, well-defined mass, and the feeding artery. In this case report, we describe the sonographic and MR diagnosis of an ELS in a fetus at 22 weeks gestation with a review of the available literature. [ABSTRACT FROM AUTHOR]