Prenatal diagnosis of hemoglobinopathies in Tunisia: an 18 years of experience.

UNLABELLED: Hemoglobinopathies are the most common genetic disease in Tunisia with a total carrier prevalence of 4.48%. OBJECTIVE: The aim of this study was to report an 18-year fully achieved experience of prenatal diagnosis (PND) of hemoglobinopathies (1994-2012) and to assess the impact of this prevention program. PATIENT AND METHODS: A total of 461 fetuses of 340 at-risk couples have been the subject of PND for beta-thalassemia major risk (41%), for sickle cell anemia risk (40.3%), for S/beta-thal risk (14.7%). The remainder fetuses were at risk for a compound heterozygote hemoglobinopathies (S/O, O/beta-thal, S/C….). Fetal DNA was studied by PCR procedure including the reverse dot-blot technique and the amplification refractory mutation system and direct sequencing. RESULTS AND DISCUSSION: Only 13.8% of the fetal samplings were conducted by chorionic villus sampling. The molecular result for beta-thalassemia risk has shown 13 beta-thal mutations, with two common: codon 39 (C>T) and IVS1-110 (G>A). The last 3 years, STR study has permitted to reduce the problems of maternal cell contamination. Among the 461 tested fetuses, 121 were affected, and then the pregnancy was terminated except for 13 cases, because of religious considerations and this despite the abortion legality in Tunisia. The conducted PND is only about 30 PND per year corresponding essentially to the couples living in Tunis City and surrounding area. PND number has increased from 1994 to 2009. This evolution has brutally decreased after the Tunisian revolution (2010). CONCLUSION: Although the good running of the PND, it covers only the Tunis city with low impact because it prevent apparition of only a mean of 7.3% of new cases. The reduced number of PND is not a technical inconvenience but rather a lack of a preventive program.

[Placental metastasis of breast cancer]. / Métastase placentaire d'un cancer du sein.

The authors report an unusual case of extensive placental micrometastases of breast carcinoma occurring in a 43 years-old woman, seen at 31 weeks gestation with metastatic disease. A female infant was delivered by caesarean section. Physical examination of the newborn was normal. The mother rapidly died of metastatic disease. Placental metastases from maternal tumours are rarely reported in the literature. The diagnosis is made by histologic examination. Placental metastases are associated with bad prognosis for the mother. The foetus is usually free of tumours when the metastases are limited to the intervillous space.

[Fetal pathology study of 88 cases of letal spina bifida]. / Etude foeto-pathologique de 88 cas de spina bifida létaux.

Lethal spina bifida continue to be frequent in Tunisia; we report 88 cases of letal spina bifida: 1.05 per thousand births. This pathology was more frequent with women. The up letal spina bifida situated is predominant with female and the dow spina bifida situated is frequent with male. We have noted an association with anencephalia (46 cases) and hydrocephaly (21 cases). Prevention is based on obstetric health care and hygiene dietetic advices to avoid alimentary deficit.

[Antenatal diagnosis and contribution of fetopathologic examination in the management of omphalocele]. / Diagnostic antenatal et apport de l'examen foetopathologique dans la prise en charge de l'omphalocele.

The omphalocele is an average coelosomie, frequency of which is estimated at 1/5000 births. We confront diagnosis antenatal with the exam foetopathologic in purpose of 41 cases of omphalocele brought together over a period going from January 1, 1991 till December, 2000 in the unity of foetopathologie from the CMNT. The frequency of omphaloceles is 4.88% of the children malformed and of 1.64% of the set (group) of the performed an autopsy children. An association malformative was found in 85.4% of cases and a karyotype typical aberration trisomie 13.18 and 21 was identified in 17% of cases. The preview of the children bearers of this deformation is especially bound (connected) to the existence and to the gravity of associated abnormalities. The omphalocele required a multidisciplinary making coverage intervernir obstetriciens, néonatologistes, surgeons pediatre and foetopathologistes.

[Diagnosis of holoprosencephalia. Report of 17 cases]. / Diagnostic de l'holoprosencephalie. A propos de 17 cas.

OBJECTIVE: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: [corrected] Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. RESULTS: Ultrasound diagnosis was made in 13 cases (75%). Ultrasound criteria were; absence of median structure of the brain and unique ventricule. The prognosis was always bad. Foetopathologic examination revealed 7 cases of lobar holoproencephalia and 10 of semi lobar. Fascial dysmorphia were noted in 82% of cases. CONCLUSION: The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences.

[Surveillance system of maternal mortality in the Tunis region]. / Le système de surveillance des décès maternels dans la région de Tunis.

In the framework of a national strategy of reduction of the maternal mortality rate. Tunisia has set up a follow up system of maternal deaths occurring in public facilities to analyse their causes, the levels of deficiency and to propose solutions for preventing them. This note aims at describing the system, its results, its efficiency and its limitations in the Tunis region for the years 1999 and 2000. The results show a maternal mortality rate estimated at 80 for 100,000 births in public facilities of the region: the main causes being haemorrhage (42.1%) followed by infection (13.2%). The proportion of avoidable deaths is 87%:74% possibly avoidable and 13% certainly avoidable, factors related to women behaviour have also contributed to 45% of cases. The system flows are however intricated, and related to organization: an underestimation of risk by the patient (33%), an inadequate watch during the postpartum period (25%), a late hospitalisation (22%) and not enough reanimation equipment. Nevertheless, this control system has achieved part of its objective by starting up a quality approach to obstetrical cares and by warning health professionals such as obstetricians, anaesthetists, blood banks in charge, hospital managers and other medical teams. The limitations of the system are tied to the follow up of the real implementation of recommendations stated in reports at a local as well as central levels.

[Acardiac malformation: ultrasonographic diagnosis. A case report]. / Le monstre acardiaque: diagnostic échographique. A propos d'un cas.

Acardia is an extremely rare malformation which is seen in less than 1 per cent of monozygous twin pregnancies. Pathological aspects and etiopathogenic theories concerning this malformation are reviewed on the basis of a case diagnosed in utero at 24 weeks. The value of the antenatal diagnosis of this malformation is that of monitoring the progression of the pregnancy and predicting the fate of the healthy twin.