Françoise Boussion

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

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).

Fetal tachycardia: a role for amiodarone as first- or second-line therapy?

BACKGROUND Fetal tachycardias result in serious prenatal and postnatal morbidity and mortality. Intrauterine treatment can improve prognosis dramatically and the therapeutic protocol is well defined. Currently, amiodarone is used as third-line therapy and is reserved for refractory cases. AIMS Our aim was to review the management and outcome of fetal tachycardia, giving particular consideration to the efficacy and safety of amiodarone therapy. METHODS This was a retrospective study of 24 consecutive cases of sustained fetal tachycardia, treated mainly with digoxin and/or amiodarone administered by the transplacental route. RESULTS The 24 fetal tachycardias comprised 16 supraventricular tachycardias with 1:1 atrioventricular conduction, seven atrial flutters and one ventricular tachycardia. Seven fetuses were hydropic and eight experienced less severe cardiac failure. Digoxin monotherapy converted 5/12 non-hydropic fetuses and 0/2 hydropic fetuses, with one intrauterine death. Amiodarone monotherapy converted 5/5 fetuses, including two hydropic fetuses: one ventricular tachycardia, two atrial flutters and two supraventricular tachycardias. When administered with digoxin, amiodarone converted all but two fetuses (7/9). No deaths were associated with amiodarone, but there was moderate morbidity, with six transient elevations of thyroid stimulating hormone at birth, two of which required short-term thyroid hormonal substitution therapy. CONCLUSION Maternal oral amiodarone seems to be effective and relatively safe, even in hydropic fetuses. We suggest that this treatment could be used earlier than is currently advised.

Rupture of an aneurysm of the ovarian artery following delivery and endovascular treatment

We report a case of spontaneous rupture of an ovarian artery aneurysm, 5 days after delivery. Severe abdominal pain justified a computed tomography scan, which revealed a massive retroperitoneal hematoma. Arteriography showed the rupture of an ovarian artery aneurysm that was successfully embolized using microcoils.

Relationship between ovarian cysts and infertility: what surgery and when?

The relationship between ovarian cysts and infertility is a subject of debate, mainly because it is difficult to determine the real impact of the cyst and its treatment on later fertility. For a long time it was hoped that surgical treatment could prevent potential complications (such as rupture or malignancy). For presumed benign ovarian tumors, fertility sparing should be the main concern. The goal of this survey of current knowledge on the subject is to thoroughly explore the potential relationship between cysts, their treatment, and infertility. Our study is based on a review of the literature dealing with the epidemiology of ovarian cysts and the effects of their surgical management in relation to infertility. Analysis of the epidemiologic data, drawn mainly from comparative studies and cohorts, shows that the role of cysts in infertility is controversial and that the effects of surgical treatment are often more harmful than the cyst itself to the ovarian reserve. Surgery does not seem to improve pregnancy rates. When a surgical option is nonetheless chosen, a conservative laparoscopic approach is more suitable. Besides excision, sclerotherapy and plasma vaporization are promising, offering a greater preservation of the ovarian parenchyma, especially in endometriomas. These techniques must be better defined. The context of the infertility is essential, and surgeons and specialists in reproductive medicine should decide management jointly.

Prévention de la prématurité spontanée chez les grossesses gémellaires asymptomatiques

Resume Objectifs Determiner les procedes utiles pour predire et prevenir l’accouchement premature spontane chez les patientes asymptomatiques et enceintes de jumeaux. Methode Recherche bibliographique effectuee par consultation des banques de donnees PubMed, Embase et Cochrane. Resultats La tocographie et le depistage d’une vaginose bacterienne ne permettent pas d’identifier une population a risque d’accouchement premature (respectivement NP2 et NP3). Les donnees actuelles de la litterature sont contradictoires et insuffisantes pour determiner, respectivement, si la recherche de fibronectine fœtale dans les secretions cervico-vaginales et le toucher vaginal sont des facteurs predictifs de l’accouchement premature. Seuls les antecedents obstetricaux (antecedent d’accouchement premature) (NP4) et surtout l’echographie endovaginale (NP2) par la mesure de la longueur cervicale sont des facteurs predictifs de prematurite. Cependant, il n’existe aucune etude ayant montre que l’identification d’un groupe a risque d’accouchement premature par l’echographie endovaginale permettait de diminuer la frequence de celui-ci chez les patientes enceintes de jumeaux et asymptomatiques. Le repos strict, l’utilisation de tocolytiques par voie orale a visee prophylactique, l’administration de progesterone, et le cerclage prophylactique chez les patientes avec ou sans modifications cervicales ne permettent pas de diminuer la prematurite (NP1). Conclusions Les moyens de prevention de l’accouchement premature spontane chez les patientes enceintes de jumeaux et asymptomatiques sont actuellement tres limites.

Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia

There have been only 10 cases reported of the association of anophthalmia/microphthalmia and esophageal atresia (AMEA) [Rogers, 1988; Arroyo et al., 1992; Sandler et al., 1995; Ulman et al., 1996; Shah et al., 1997; Imaizumi et al., 1999;Menetrey et al., 2002;Messina et al., 2003]. Although the etiology and the mode of inheritance of this condition are still unknown, the report of a newpatient reinforces the notion that AMEA is a nonrandom combination of malformation. We performedaFISHanalysiswithBACclones spanning the locus of SOX2, a gene recently implicated in anophthalmia/microphthalmia [Fantes et al., 2003]. The patient, a 30-year-old woman, had been referred for genetic counselling during her first pregnancy. In the neonatal period, she had been operated on for type III esophageal atresia. At the age of 6 years, she had received an ocular prosthesis for colobomatous microphthalmia of the right eye. The left eyewasnormal. At birth, shehadanasymmetric facies suggestive of the Goldhenhar syndrome although no epibulbar dermoids were present. Skeletal radiograph showed fusion of the 4th and 5th ribs on the right, and fusion of the 1st and 2nd ribs on the left, without any vertebral abnormalities. Ultra sonographic examination of the kidneys was normal. There was no family history of similar malformations, and the patient’s mother had taken no drugs during her pregnancy. The patient’s karyotype (650 bands) was normal. Since deletions of chromosome 3q27-28, involving the SOX2 gene, have been described in anophthalmia/microphthalmia [Male et al., 2002], a FISH analysis was performed using three BAC clones, encompassing the SOX2 locus (3q26.33), obtained from theENSEMBLgenomedatabase.No deletionwas found either with BACRP11-43F17, specifically containing the SOX2 gene, orwith two otherBACs, namelyRP11-416O18 andRP11-2J10, flanking the SOX2 locus. The patient’s pregnancywas followedwith serial ultrasound evaluations. No signs of esophageal or eye malformation were evidenced and a normal baby boy was delivered at term. This patient with AMEA is the 11th case, thus far reported. It is only the third concerning an affected female and unique because of her pregnancy. Although this disorder is referred to as anophthalmia and esophageal atresia in the OMIM database (600992), the spectrumof eyemalformations is not limited to anophthalmia but also includes colobomatous microphthalmia, which may be bilateral or unilateral. Anophthalmia/ micropthalmia has been associated with deletion or translocation involving chromosome 3q27-q28 3 [for a review, see Male et al., 2002] and, recently,mutations of theSOX2 gene, present at this locus have been reported in individuals with anophthalmia [Fantes et al., 2003]. In the present case, the SOX2 locus was not deleted, but the search for SOX2 mutations was not performed.

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family

CHARGE syndrome comprises ocular coloboma (C), heart malformation (H), choanal atresia (A), retardation of growth and/or anomalies of the central nervous system (R), genital anomalies (G) and ear anomalies (E). Prenatal diagnosis of CHARGE syndrome may be suspected in the presence of specific major anomalies at ultrasound examination. We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family.

What prenatal ultrasound features are predictable of complex or vanishing gastroschisis? A retrospective study

To evaluate prenatal ultrasound parameters as prognostic factors for complex and vanishing gastroschisis.

Travail originalInsertion linéaire des valves auriculoventriculaires (Ilvav) : fiabilité du diagnostic échographique et prévalence dans une population sans trisomie 21Linear insertion of atrioventricular valves (Livav): Echocardiographic diagnosis reliability and prevalence in general population

OBJECTIVES Assess the reliability of prenatal diagnosis of linear insertion of atrioventricular valves (Livav) by echocardiography as well as estimate Livavs 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.

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 Livavs 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.