The sirenomelia sequence: a case history.

We report a case of sirenomelia sequence observed in an incident of preterm labor during the 29th gestational week. According to some authors, this syndrome should be classified separately from caudal regression syndrome and is likely to be the result of an abnormality taking place during the fourth gestational week, causing developmental abnormalities in the lower extremities, pelvis, genitalia, urinary tract and digestive organs. Despite recent progress in pathology, the etiopathogenesis of sirenomelia is still debated.

Prenatal diagnosis of ectopia cordis: case report.

UNLABELLED: Ectopia cordis is a rare and impressive malformation presenting as an isolated lesion or as part of the Cantrell's pentology syndrom. It is defined as an anomaly in which the fetal heart lies outside the thoracic cavity. THE AIM of the study is to report the prenatal diagnostic features and management of ectopia cordis. CASE REPORT: We report a prenatal diagnosis case of ectopia cordis using two-dimensional ultrasound at 19 weeks of gestation. Multiple congenital anomalies were found. The most important one was the presence of a ventral thoracoabdominal wall defect with exstrophy of the heart, liver, stomach and intestines. Histopathological examination confirmed the ultrasound findings. Due to severity of the malformations, termination of pregnancy was made.

[Prenatal diagnosis of trisomy 21: the Tunisian experience]. / Diagnostic anténatal de la trisomie 21: expérience du service A du centre de maternité de Tunis.

UNLABELLED: Down syndrome (Trisomy 21) is the most common fetal chromosomal abnormality in humans. Its clinical signs are now well known. Methods for prenatal screening have advanced substantially in the past two decades. OBJECTIVE: To describe our experience with prenatal diagnosis of Down syndrome, including the indications, methods and results. MATERIAL AND METHODS: This retrospective study examined cases over a 4-year period. We adopted a sequential screening strategy for patients followed in our department since the beginning of their pregnancies after informed consent. We proposed first trimester ultrasound that measured nuchal translucency thickness and followed it with maternal serum screening. Some patients underwent screening during the second trimester or third trimester ultrasound. To assess the results, we studied the mothers' epidemiological characteristics and analysed the circumstances of prenatal diagnosis of trisomy 21 (T21). RESULTS/DISCUSSION: We identified 22 cases of T21 during the study period, for a total prevalence of 0.98 per thousand. The diagnosis was prenatal in 13 cases, mainly due to ultrasound signs. Of the 14 patients seen prenatally, only 8 were followed from early pregnancy. Five had enlarged nuchal translucency (> 95th percentile). Three had positive second trimester serum screening tests. One patient had amniocentesis planned because of her age (table 1). T21 was diagnosed in the second trimester in two cases and in the third trimester in three. The major morphological abnormalities observed were cardiac. We found an atrioventricular canal defect in four cases, and fetal hydrops in two cases (Table 2). The median gestational age at diagnosis of T21 in this study was 21 weeks. The diagnosis was missed in one patient followed throughout pregnancy in our unit. The median gestational age at termination of pregnancy was 22 weeks. Only one patient chose not to terminate the pregnancy. Her fetus, delivered at term, had no major pathologies. CONCLUSION: The establishment of a screening strategy for trisomy 21 in Tunisia is necessary to reduce handicaps. It should begin by expanding first-trimester ultrasound with nuchal translucency measurement. At the same time, serum marker testing should be offered to all patients. Routine amniocentesis for advanced maternal age should be avoided.

[Prenatal ultrasound aspects of arthrogryposis multiplex congenita]. / Aspects echographiques de l'arthrogrypose congenitale multiple.

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. RESULTS: 16 observations have been collected. We recovered one multiple pterigium syndrome and five observations of severe fetal akinesia sequences diagnosed in the second trimester. The arthrogryposis was part of different syndromes in other cases. Four distal arthrogryposis had been diagnosed in the second trimester. All cases suspected during the third trimester were associated to an anomaly of the amniotic fluid, mainly to a polyhydramnios. The abnormal scan findings were less specific to this term. CONCLUSION: Arthrogryposis multiplex congenital is rare. It has several morphological aspects. Some ultrasound aspects are specific in the first and second trimesters. The diagnosis is more difficult at the third trimester.

[Antenatal diagnosis of multicystic renal dysplsia. Report of 11 cases]. / Diagnostic antenatal des dysplasies renales multikystiques. A propos de 11 cas.

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. METHODS: A retrospective study of 11 UCDK cases diagnosed by antenatal ultra echography performed between the 4th and 6th monts of pregnancy. The outcome measure was radiographic imaginy It acts of a retrospective study of the 11 cases of DRMK diagnosed in anténatal by an echography obstétricale of the second quarter. A diagnostic confirmation was obtained by radiological examinations in post native for the pregnancies carried. RESULT: Patients with UCDK have significant associated urological and/or non urological malformations. In certain cases of non lethal anomalies, antenatal detection may influence both obstetric and postnatal management. Conservative management requires appropriate investigation of urinary tract tract and long-term follow-up.

[Potter's reno-facial syndrome]. / Syndrome de Potter. Etude analytique a propos de 4 cas.

Potter's reno-facial syndrome is a rare innate abnormality. We bring 4 observations repertoried at the maternity of military hospital of Tunis over a period of 6 years (1997 - 2002). The purpose of our work is to determine after a review of the literature the echographic and foetopathologic characteristics, and the forecast of this syndrome. The frequency of the bilateral renale agenesis is of 0.27 per thousand. Positive diagnosis bases essentially on the ultrasound of the 2th, or the 3-th trimester. The signs of appeal are essentially the oligoamnios associated to an hypotrophy. The caryotype is systematic to eliminate an associeted chromosomic abnormality. Foetopathologic exam is usefull for the diagnosis. Main abnormality except the urinary pathology is the lung hypoplasia. Therapeutic interruption of the pregnancy in this situation not compatible with the extra-uterine life., only type IV authorize the development of the pregnancy according to echographic data and of foetal urinaire biochemistry. We insist on the early practice of the morphological ultrasound between 20 - 22 weeks for the diagnosis of foetal abnormalities and the place of the genetic advice in association with the geneticist in the coverage of the couple.

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. RESULTS: Prenatal diagnosis was made in only 1 case at 33 weeks of gestation. Rudimentary cardiac tissue was observed in 2 of the 6 perfused twins, and the cephalic pole was less developed than other parts of the body. Severe agenesis or hypoplasia of the thoracoabdominal organs was commonly observed. Many limb malformations were observed, with arms the most affected. One of the pump twins was stillborn, 3 died between days 1 and 3 from respiratory distress, and 2 developed cardiac failure after birth and were treated with diuretics and digoxin, which led to a favorable outcome in only 1. The ratio of the weight of the acardiac to pump twin (TWR) ranged from 50 to 142%. CONCLUSION: The findings of this study indicate that acardia can be diagnosed by means of ultrasound in front of a monochorial twin pregnancy when one of the fetuses is deformed and has no cardiac activity. Heart failure and polyhydramnios, as well as a TWR greater than 50% are prognostic factors for the pump twin.