Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.

Molar pregnancies are benign trophoblastic diseases associated with a risk of malignant transformation. If aetiology remains mostly unknown, the risk of recurrent molar pregnancy is around 1.5% after one molar pregnancy and around 25% after 2 molar pregnancies. In the later situation, genetic mutations have been described, increasing hugely this risk. In case of mutations, probability to obtain a normal pregnancy is estimated around 1.8%. We report the case of a Caucasian 30-year-old woman whose previous five spontaneous pregnancies had a negative outcome: a spontaneous miscarriage and then 4 complete hydatidiform moles. Genetic testing revealed that the patient carried two heterozygous mutations in the NLRP7 gene (c.2982-2A > G and Y318CfsX7). According to this, counselling was conducted to advocate for oocyte donation in order to obtain a normal pregnancy. This technique enabled a complication-free, singleton pregnancy that resulted in a healthy term live birth of a 2900 g female. Few months after delivery, the patient presented a new complete hydatidiform mole. Women presented with mutations in the NLRP7, KHDC3L or PADI6 genes are unlikely to obtain normal pregnancies, with a major risk of reproductive failure. In such a context, oocyte donation may be the best option. Only 4 normal pregnancies and deliveries have been published in this situation through this technique to our knowledge.

Giant neonatal hydronephrosis of the upper pole of a complete duplicated renal system.

Ureteropelvic junction obstruction (UPJO) in the upper pole of a complete duplicated renal system is extremely rare. We report a case that was diagnosed prenatally and we review 10 cases published in the literature. Diagnoses of adrenal hematoma and cystic neuroblastoma were suspected on prenatal ultrasound, based on the severity of dilatation and the difficulty of identifying the exact origin of this anomaly. Neonatal magnetic resonance imagery (MRI) was subsequently able to show a normal adrenal gland. Surgical management is similar to that of a single-system pyeloureteral junction obstruction. Since this situation is very rare, we believe cystoscopy can be useful to confirm diagnosis of UPJO associated with complete duplication, especially in the absence of preoperative MRI. Among the 11 surgical cases previously published, seven patients underwent pyeloplasty and four heminephrectomy.

General practitioners and endometriosis: Level of knowledge and the impact of training.

OBJECTIVE: To assess general practitioners' (GPs') knowledge of and practice in the diagnosis and management of endometriosis following the publication of updated French national guidelines in 2017. MATERIALS AND METHODS: A descriptive, anonymous, epidemiological survey of 102 GPs in the Picardie region of France. RESULTS: Only 25% of the GPs considered that they knew enough about endometriosis for their routine clinical practice. This proportion was 58.9% amongst GPs with an university diploma in gynaecology and 31.4% amongst those participating in continuing medical education courses on gynaecology. Only 19.6% of the GPs were aware of the updated French national guidelines. With regard to five main suggestive, localizing signs of endometriosis, dyspareunia, dysmenorrhoea and infertility were mentioned as being of diagnostic value by 55.9%, 37.3% and 43.1% of the GPs, respectively; in contrast, functional urinary tract disorders and painful defecation were not mentioned very often. GPs with a qualification in gynaecology and those participating in continuing medical education in gynaecology knew more about treating endometriosis. CONCLUSION: In the Picardie region of France, GPs appear to be only moderately aware of how to manage endometriosis; this probably contributes to the diagnostic delay associated with this condition. GPs with a university diploma in gynaecology and those participating in continuing medical education in gynaecology appeared to have a better grasp of the subject. Continuing medical education on this topic should therefore be promoted and expanded.