GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.

Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, GGCX and VKORC1, can lead to this disorder. We present the case of a male fetus with a brachytelephalangic chondrodysplasia punctata (CDP), absence of nasal bone, growth restriction, and bilateral ventriculomegaly at 18 weeks of gestation. Pathological examination showed a Binder phenotype, hypoplastic distal phalanges, stippled epiphyses, and brain abnormalities suggestive of a brain hemorrhage. Two GGCX pathogenic variants inherited respectively from the mother and the father were identified. To our knowledge, this is the first prenatal description of VKCFD. Even if it remains a rare etiology, which is mostly described in children or adult patients, VKCFD should be considered in fetuses with CDP.

Three-dimensional ultrasound in the management of bladder endometriosis.

STUDY OBJECTIVE: To assess the performance of three-dimensional (3D) ultrasound with color Doppler in the diagnosis of bladder endometriosis compared with magnetic resonance imaging (MRI) and cystoscopy. DESIGN: Canadian Task Force classification II-3. SETTING: Department of gynecology and obstetrics of a university hospital. PATIENTS: Eight women who reported urinary tract symptoms suggestive of bladder endometriosis between May 2012 and November 2013. INTERVENTIONS: For all cases, we assessed the size of the endometriotic nodule, its location on the bladder wall, and the distance between the lesion and the ureteral meatus, with pelvic 3D ultrasound (full bladder), uro-MRI, and cystoscopy. The results were compared with the postoperative histopathologic findings. MEASUREMENTS AND MAIN RESULTS: The pathology results differed from those produced by imaging by a mean ± SD of -3.5 ± 6.4 mm on transvaginal ultrasound (TVUS) and -5.75 ± 11.9 mm) for MRI. There was no significant difference between imaging and pathology findings (p = .20) or between the 2 imaging findings (TVUS and MRI) (p = .73). Results showed a trend toward better accuracy for 3D ultrasound than MRI with smaller SDs (p = .08). Cystoscopy and ultrasound were compared; however, without any tools to assess the distance in cystoscopy, no statistical result was possible. CONCLUSION: Ultrasound seems to be superior to cystoscopy and is at least as effective as MRI in diagnosing and planning the surgery for bladder endometriosis.

Predictive factors for severe placental damage in pregnant women with SARS-CoV-2 infection.

INTRODUCTION: SARS-Cov-2 infection during pregnancy can lead to severe placental lesions characterized by massive perivillous fibrin deposition, histiocytic intervillositis and trophoblast necrosis. Diffuse placental damage of this kind is rare, but can sometimes lead to obstetric complications, such as intrauterine fetal death (IUFD). The objectives of this study were to identify possible predictors of severe placental lesions. METHODS: We retrospectively studied 96 placentas from SARS-Cov-2 positive pregnant women who gave birth between March 2020 and March 2022. Cases with and without severe placental lesions were compared in terms of clinical and laboratory findings. RESULTS: Twelve of the 96 patients had severe placental lesions. There was no significant association with diabetes, obesity or severe clinical maternal disease. In contrast, presence of severe placental lesions was significantly associated with neonatal intensive care, cesarean section, prematurity, IUFD, intrauterine growth restriction (IUGR), gestational age, maternal hypofibrinogenemia and thrombocytopenia. No cases of severe placental lesions were observed in vaccinated patients or in those with the Omicron variant. DISCUSSION: In these patients, severe placental lesions due to SARS-Cov-2 were significantly associated with the presence of coagulation abnormalities (hypofibrinogenemia and thrombocytopenia), IUGR and gestational age. These results support laboratory and ultrasound monitoring of these parameters in pregnant women with SARS-Cov-2 infection, especially during the second trimester, to predict potential negative fetal outcomes.

[Metastatic screening before adjuvant chemotherapy in breast cancer]. / Intérêt du bilan d'extension dans le cancer du sein avant chimiothérapie adjuvante.

INTRODUCTION: Systematic metastasis staging in early breast cancer is no longer recommended. However, it is still performed before adjuvant chemotherapy. MATERIALS AND METHODS: We assessed metastasis screening of asymptomatic women with a local breast cancer without lymph node involvement when adjuvant chemotherapy was indicated. The screening result was classified in 3 groups: "non-metastatic", "metastatic" and "suspect". For suspect screening, we analyzed the checking period and the consequences on cares. RESULTS: Out of 1545 patients with possible indication of chemotherapy, 690 indications of chemotherapy were validated by multidisciplinary meeting. Six hundred and thirty-nine metastasis screening were done. Five hundred and fifty-five screenings (86.9 %) were "non-metastatic", 3 screenings (0.5 %) were "metastatic" and 81 screenings (12.7 %) were "suspect". Out of this 81 suspect screening, only 47 screening have been checked, using 61 further investigations. No breast cancer metastasis was finally identified. CONCLUSION: Low rate of metastasis suggest reassessing metastasis screening before adjuvant chemotherapy for patients without lymph node involvement.