The limb defects : antenatal diagnosis and conduct

- Sonography of fetal limbs morphological examination remains difficult despite the different techniques available to the obstetrician with a sensitivity of screening:*70% for major anomalies.*18% for anomalies miners say.-The optimal exploration period is between 12 and 26 weeks.-Morphogenesis of the members takes place between the 7th and 10 th SA.-The upper limb is constantly ahead of a few days compared to the lower limb.-Trans-abdominal ultrasound:The limb bones are visible from the 10th SA.The small bones of the extremities are only 14SA.-By vaginal sonography: a gain of one to four weeks can be obtained.-Well known, members of an anomaly can be difficult to identify after 26sa, especially when it comes to a positional condition (decreased amniotic fluid volume and quickening and a fetal position bending over frequent).-Pathologies are described by types depending on the originator's call sign:1. The limb is amputated: agenesis                                     5/1000 births*Cross: they are isolated in 50% of cases*Longitudinal: they fall mainly within the framework of a malformative pathology prognosis and management are totally different.2. the member has a short.3. segmentation anomalies:*Polydactyly: most often isolated, happy family, an autosomal dominant.*Syndactyly: Access difficult on ultrasound.4. the member is ill-posed:*The clubfoot: the most frequent*Botes hands, feet and hands in varus gales are rare.The uni or bilateral lesions, isolated or used in a context malformation, involving the limb segment overlying or touching another sphere gives them a different prognostic implication.5. the member is not deformed between shortcut.The discovery of an abnormality of the extremities requires research related conditions.This review aims to describe the skeleton, to give the sonographic features, especially in long bones, chest and skull. It is complemented by the description of the viscera.The bilateral and symmetrical malformations which covers only members raised concerns about disease gene with significant risk of recurrence.

Ultrasound screening of limb defects is difficult. We must insist on the interest of finding malformation syndrome.The screening of an isolated defect unilaterally without major influence poses problems of what to do.The therapeutic approach is far from obvious to an isolated malformation of a member who will still be a source of disability.

We report 7cas of limb defects diagnosed prenatally, collected over a period of 3 years in the service of gynecology and obstetrics Monastir.During this period, 17,600 were carried out delivery .

. The frequency of limb defects is 12.5% of all malformations, 0.04 ‰ of all deliveries in the service.The average age is 28.5 years.The term means of prenatal diagnosis was 19.2 SA Going with extremes of 12 to 37 weeks.The members are isolated anomalies found in 4 cases.The ITG is performed in 6 cases

Appreciate the possibilities of prenatal diagnosis based on gestational age.Study conducted according to obstetric malformation and the term of pregnancy.

Ultrasound allows a study morphological and biometric invaluable fetal limb.When prenatal diagnosis is made, obstetrical conduct may face ethical problems, especially in cases of isolated agenesis of the members.  

KOUAS S. ; HAJJAJI A. ; MELLASSI.R ; KABOUS.A;LAAJILI.H;HADDAD.A;FALEH R.; SAKOUHI M.

Department of Gynecology and Obstetrics Monastir.

Type of malformation

N Terme de découverte

Associated malformations

conduct

Arthrogrypose 2 13 SA

23 SA

Hydrocéphalie+ spina bifida

/

ITG

Club foot 2 17 SA

37 SA

Hydrocéphalie+ spina bifida

/

ITG

thanatophoric dwarfism

1 28 SA hydrocéphalie abstention

Agenesis of the member

1 13 SA / ITG

Caudal regression 1 23 SA / ITG (mère DID)

1-Y.Ardaems, M.Kohler, SManovrier, L.Dewisue, pathologies des membres et des extrémités, Fev.20012-J.P.Aubry, M.C.Aubry, Dépistage échographique des anomalies chromosomiques à propos des T13 et des T18, J.Genet.Hum,1982,30 :233-253.3-A.S.Aylsworth, J .W.Seeds. Prenatal diagnosis of sever type of osteogenesis imperfect.Am.J.Med.Genet.1984, 19:707-714.

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