The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. No other HYLS1 variant has hitherto been implicated in HLS. We report two unrelated French fetuses presenting with a phenotype of HLS with brain abnormalities, limbs malformations with pre and postaxial hexadactyly and abnormal genitalia. These two fetuses have compound heterozygous variants in HYLS1. The first allele carries the same Finnish missense variant (NM_145014.2: c.632A > G, p.[Asp211Gly]) in both fetuses and the second allele carries a new missense variant (c.662G > C, p.[Arg221Pro]) in the first fetus, and a new nonsense variant (c.613C > T, p.[Arg205*]) in the second fetus. This is the first report of HYLS1 mutated cases outside Finland. Both cases presented here are consistent with HLS with additional malformations, allowing expansion of the phenotypic presentation previously described.

Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.

We described a new second case of fetoplacental discrepancy involving first trimester prenatal detection of mosaic isochromosome i (8) (q10). A 32-year-old woman underwent chorionic villous sampling because of increased fetal nuchal translucency. Analysis of direct chromosome preparations was performed by R-banding and FISH using subtelomeric, centromeric and whole chromosome painting probes for chromosome 8 showing the presence of an isochromosome 8q with a complex, female mosaic karyotype: mos 46,XX,i (8) (q10)[13]/46,XX,del (8) (p23)[10]. Cytogenetic analysis of cultured CVS showed an interstitial duplication with concomitant terminal deletion of the short arm of chromosome 8: 46,XX,der (8)del (8) (p23)dup (8) (p?)[18]. Array-CGH analysis from cultured trophoblasts and fetal tissues revealed a 6.69 Mb terminal deletion in 8p23.3p23.1 associated with a 31.49 Mb duplication in 8p23.1p11.1. FISH analysis confirmed the 8p inverted duplication deletion syndrome. Moreover, polymorphic DNA marker analysis demonstrated that the derivative chromosome 8 was of maternal origin. FISH analysis of cultured peripheral blood lymphocytes showed that the mother also carried a cryptic paracentric inversion inv (8) (p23). Our report contributes to expand the fetal phenotype of 8p inverted duplication deletion syndrome and also provides further insight into the underlying mechanism of this rare genomic disorder.

Angiographic findings and outcomes after embolization of patients with suspected postabortion uterine arteriovenous fistula.

INTRODUCTION: The purpose of this study is to assess the angiographic incidence of uterine arteriovenous fistula (UAVF) in women referred for a high ultrasonographic suspicion in a postabortion setting and to evaluate the safety, efficacy and impact on further fertility of uterine artery embolization (UAE) in this indication. MATERIALS AND METHODS: A monocentric retrospective study of 31patients managed by uterine artery embolization for suspected UAVF after spontaneous or induced first trimester abortion. The diagnosis of UAVF was confirmed when an early venous drainage was identified on the angiogram. Technical success was defined as complete exclusion of the vascular lesion. Clinical success was defined as the absence of bleeding during the clinical follow-up and during the surgery in case of hysteroscopic resection. Information about further fertility was gathered by phone calls to the patients. RESULTS: The mean age of the patients was 30.8 (±6.0) years. The diagnosis of UAVF was angiographically confirmed in 6 patients (19.4 %). Angiographic findings of retained product of conception (RPOC) with varying degrees of vascularity were observed in remaining patients. The technical success rate of UAE was 100 %, mostly through a proximal and bilateral embolization using a resorbable agent (27/31 patients, 87.1 %). The clinical success rate of UAE was 100 % in the group treated by a single UAE. We did not notice any bleeding during the surgery in the group of patients who needed a further hysteroscopic resection. 14 patients led at least one subsequent pregnancy to term without any difficulty. CONCLUSION: UAVF is a rare condition. We supposed it may constitute the ultimate stage in the natural history of the retained products of conception with "marked vascularity". UAE seems to be an effective and safe first-line treatment.

Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of placenta accreta.

PURPOSE: To evaluate the accuracy of ultrasonography and magnetic resonance imaging (MRI) in the diagnosis of placenta accreta and to define the most relevant specific ultrasound and MRI features that may predict placental invasion. MATERIAL AND METHODS: This study was approved by the institutional review board of the French College of Obstetricians and Gynecologists. We retrospectively reviewed the medical records of all patients referred for suspected placenta accreta to two university hospitals from 01/2001 to 05/2012. Our study population included 42 pregnant women who had been investigated by both ultrasonography and MRI. Ultrasound images and MRI were blindly reassessed for each case by 2 raters in order to score features that predict abnormal placental invasion. RESULTS: Sensitivity in the diagnosis of placenta accreta was 100% with ultrasound and 76.9% for MRI (P = 0.03). Specificity was 37.5% with ultrasonography and 50% for MRI (P = 0.6). The features of greatest sensitivity on ultrasonography were intraplacental lacunae and loss of the normal retroplacental clear space. Increased vascularization in the uterine serosa-bladder wall interface and vascularization perpendicular to the uterine wall had the best positive predictive value (92%). At MRI, uterine bulging had the best positive predictive value (85%) and its combination with the presence of dark intraplacental bands on T2-weighted images improved the predictive value to 90%. CONCLUSION: Ultrasound imaging is the mainstay of screening for placenta accreta. MRI appears to be complementary to ultrasonography, especially when there are few ultrasound signs.