Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.

Background: Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures.

Methods: We present 2 new cases of mosaic trisomy 2 detected at amniocentesis with previously unreported clinical features and we review the literature of the clinical manifestations of this uncommon aneuploidy.

Results: Cytogenetic analysis of the amniotic fluid culture showed mosaic trisomy 2 (47,XY,+2[9]; 46,XY[19]) (32%) for case 1, and (47,XY,+2[13]; 46,XY[21]) (38%) for case 2 in two independent flask cultures.

Value of Placental Examination in the Diagnostic Evaluation of Stillbirth.

The aim was to assess the contribution of placental examination in the etiologic investigation of stillbirth. A retrospective review of stillbirths that occurred after 14 weeks gestation was conducted for a one-year period. Twin pregnancies and fetuses without placentas were excluded.

Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.

The aim of this study was to classify the fetal skeletal dysplasias (FSD) in a series of affected fetuses based on radio-pathologic criteria. We gathered clinicopathologic data of 72 cases which were diagnosed among 5995 autopsies performed over a 8-year period. The prevalence of FSD was 1.

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the ventricular muscle without dilation and is often associated with dominant pathogenic variants in cardiac sarcomeric protein genes. Here, we report a family with two infants diagnosed with infantile-onset HCM and mitral valve dysplasia that led to death before one year of age. Using exome sequencing, we discovered that one of the affected children had a homozygous frameshift variant in Myosin light chain 2 (MYL2:NM_000432.

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.

Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus.

Fetopathological examination for the fetuses with Down syndrome in Tunisia: Epidemiological study and associated malformations.

Background: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data.

Aim Of The Study: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome.

[Confrontation between ultrasound and fetopathological examination following therapeutic abortion performed in a maternity clinic in Tunisia].

This study aims to evaluate the value of prenatal ultrasound diagnosis by comparing it with the results of the fetopathological examination in case of therapeutic interruption of pregnancy for fetal indication. We conducted a retrospective descriptive and analytical study carried out over a three-year period from January 2013 to December 2015. It involved 66 fetuses autopsied after therapeutic interruption of pregnancy for fetal indication.

[Neu-Laxova syndrome: Three case reports and a review of the literature].

Introduction: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS.

Maternal 25-hydroxyvitamin D level and the occurrence of neural tube defects in Tunisia.

Objective: To determine whether low vitamin D levels in pregnant women are associated with the occurrence of neural tube defects (NTDs) in Tunisia.

Methods: In a prospective study, pregnant women were recruited at a center in Tunis between January 1, 2012, and December 30, 2013. Women carrying a fetus with a severe NTD were recruited before elective termination.

Association of maternal homocysteine and vitamins status with the risk of neural tube defects in Tunisia: A case-control study.

Background: This study was conducted to determine whether low folate and vitamin B12 levels, as well as high homocysteine levels in pregnant women are associated with neural tube defects (NTDs) in Tunisia.

Methods: A total of 75 NTDs pregnancies and 75 matched controls were included in the study. Their vitamin B12, folate, and red blood cell folate concentrations were measured using a radio-immunoassay kit and total homocysteine concentrations were determined using a fluorescent polarization immunoassay.

Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele.

Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine.

An increase in spina bifida cases in Tunisia, 2008-2011.

Background: The term spina bifida refers to a group of neural tube defects that result in malformations of the spinal cord and the surrounding vertebrae. Though the etiologies of spina bifida remain largely unknown, several risk factors have been identified, including feto-maternal characteristics.

Aim Of The Study: To discover possible underlying reasons for the increase of spina bifida and identify intervention targets, an investigation was undertaken comparing spina bifida-affected pregnancy notifications in 2008-2011 with notifications in the period 1991-1994.

Epidemiology of neural tube defect subtypes in Tunisia, 1991-2011.

Background: Neural tube defects are common major congenital anomalies that result from very early disruption in the development of the brain and spinal cord.

Aim Of The Study: We conducted an epidemiological study to determine the impact of some feto-maternal characteristics in the occurrence of NTD subtypes.

Methods: Characteristics and outcomes of births with NTD and pregnancy characteristics of mothers over a period of twenty years (1991-2011) were recorded in the medical chart.

Fetopathological aspects of holoprosencephaly.

Unlabelled: Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to find ways of timely detection of this pathological condition.

[Prenatal ultrasound aspects of arthrogryposis multiplex congenita].

Aim: To analyze the contribution of prenatal ultrasound in the diagnosis of arthrogryposis multiplex congenital according to its type and antenatal expression.

Methods: Retrospective study led between January 1993 and November 2007. We studied the cases of arthrogryposis suspected or diagnosed by antenatal ultrasound while analyzing the circumstances of discovery, the profile of the pregnant women and the abnormal scan findings.

[Antenatal diagnosis of multicystic renal dysplsia. Report of 11 cases].

Background: Multicystic dysplastic of the kidney (UCDK) in the most common cause of an abdominal man in the new born period and is the most common cystic malformation of the kidney in infancy. The increasingly widespread use of prenatal diagnostic techniques has revealed that UCDK is apparently even more prevalent than had been assumed.

The Aim: of this study was to assess the utility of antenatal ultra ecography for in utero diagnosid of UCDK and its management.

Clinical and anatomic features of acardiac twins.

Objective: To report 6 cases of acardiac twins, and to investigate prognostic factors that would lead to survival of the normal twin.

Subjects And Methods: During a 9-year period from 1993 to 2001, 6 cases of acardiac twins out of 109,000 deliveries at the Maternity Center, Tunis, Tunisia were studied. Detailed inspection, X-rays, ultrasound and autopsies were performed.

[Retrocervical cystic hygroma: about 35 cases].

Retrocervical cystic hygroma is a congenital defect associated to chromosomic anomalies. We report a retrospective study about 35 cystic hygroma autopsies colliged in C.M.