[Linear insertion of atrioventricular valves (Livav): echocardiographic diagnosis, reliability and prevalence in the general population]. / Insertion linéaire des valves auriculoventriculaires (Ilvav): fiabilité du diagnostic échographique et prévalence dans une population sans trisomie 21.

OBJECTIVES: Assess the reliability of prenatal diagnosis of linear insertion of atrioventricular valves (Livav) by echocardiography as well as estimate Livav's prevalence in a population without Down syndrome. PATIENTS: One hundred and twenty-three fetuses of whom 113 were explored before and after birth and 631 consecutive out-patients explored in cardiopediatric unit. METHODS: Determination of the likehood ratio (LHR+ and LHR-) of Livav prenatal diagnosis. Evaluation of the consistency between pre- and postnatal diagnoses as well as between two observers after birth (Kappa index). Prevalence study according to the presence of Down syndrome, cardiac malformation or others abnormalities. RESULTS: LHR+ value was 6.17 and LHR- value was 0.30 for echographic Livav prenatal diagnosis. Consistency was low between pre- and postnatal diagnoses (Kappa = 0.57) and higher between two observers after birth (Kappa = 0.79). Livav prevalence was 2 to 5% in a population without Down syndrome but 15% when associated with a cardiac malformation. Seventy-eight percent Down syndromes had either Livav or AVSD. CONCLUSION: Livav echographic prenatal diagnosis is difficult, for it generates many false positives. Livav is not specific of Down syndrome and can be found relatively frequently in other subjects.

Influence of ultrasonographers training on prenatal diagnosis of congenital heart diseases: a 12-year population-based study.

OBJECTIVE: Since 1998, French multidisciplinary prenatal diagnosis centers (CPDPN) offer a training opportunity to first-level screening sonographers. This study measures the impact of this training on prenatal detection rates of congenital heart diseases (CHDs). METHODS: We analyzed the sensitivity of screening sonographers by comparing CHD prenatal diagnoses and CHDs observed after birth in the area of Angers from 1994 to 2006. Two groups of sonographers were compared, those who attended the training (n=19) and those who did not (control group. n=21). The evolution of CHD detection rate was compared between two successive periods of 6 years each. RESULTS: Of 947 CHDs, 438 (46%) were detected prenatally. The control group sensitivity was 16 versus 37% for the sonographers who had attended the training course (p<0.001).Between the two study periods, detection rates for all CHDs and significant CHDs remained unchanged in the control group, whereas they improved significantly in the other group (respectively 54% vs 33% and 75% vs 38%, p<0.05). CONCLUSION: This study supports the hypothesis of a beneficial effect of CPDPN on prenatal diagnosis of CHDs. These centers not only fulfill their primary purpose but also operate as learning centers in which screening sonographers may improve their practice.

Prenatal diagnosis of absence of the septum pellucidum associated with septo-optic dysplasia.

Septo-optic dysplasia (SOD; De Morsier syndrome) is a rare congenital disorder characterized by the absence of the septum pellucidum (SP), hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. We report on two fetuses with absence of the SP diagnosed by ultrasound examination at 29 and 30 gestational weeks. In the first case the diagnosis of SOD was suspected in utero and confirmed postnatally; to the best of our knowledge this is the first report of the prenatal diagnosis of SOD. In the second case absence of the SP appeared to be isolated and no visual or endocrine impairment were detected after birth.

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.

[Is ultrasound screening for ovarian cancer possible in 1998?]. / Le dépistage échographique du cancer de l'ovaire est-il possible en 1998?

Ovarian cancer is the most common cause of gynecologic cancer death, as most patients present with advanced disease, in which the prognosis is poor. Five year-survival is only 35% for all stages, while it exceeds 90% in stage I. Consequently, there has been heightened interest in the development of screening modalities that can detect ovarian cancer at an early stage to reduce the mortality of this disease. Unfortunately, transvaginal sonography and color Doppler imaging still have a high false positive rate and low specificity increasing the number of surgical procedures, even among women with a strong family history of ovarian cancer. Psychological impact and economical cost has also to be discussed when considering such programs.

[Apert syndrome. Ultrasonic diagnosis, obstetrical management]. / Syndrome d'Apert. Diagnostic échographique, prise en charge obstétricale.

We report two observations of antenatal diagnosis of Apert syndrome. This uncommon genetic disorder suggest an autosomal dominant inheritance, but almost all cases described are sporadic; the responsible gene is yet not located. Ultrasonographic detection is difficult, based on the following signs: brachycephalic skull (unusually detected), flat facial profile with a nasal bridge depression, tall appearance of the forehead (inconstant), total bilateral and symmetrical syndactylies of the hands and feet. At last we present our arguments for medical abortion, when this disorder is detected.

[Antenatal prognostic factors in sacrococcygeal teratomas]. / Facteurs pronostiques anténatals des tératomes sacro-coccygiens.

The authors report 5 cases of sacrococcygeal teratoma, 4 of which were diagnosed by routine ultrasonography. In view of the poor prognosis of sacrococcygeal teratomas discovered antenatally, certain ultrasonographic severity criteria have been defined. The following are felt to be relevant in this light of present knowledge: a tumour size greater than the biparietal diameter of the fetus at the time of diagnosis; rapid tumour growth. This latter parameter summarises in itself the criteria taken into account in the past: placentomegaly, hydramnios, anasarca. Colour coded Doppler should make it possible in the future to identify a group which might benefit from treatment in utero.