Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

RING Finger Protein 113 A (RNF113A, MIM 300951) is a highly conserved gene located on chromosome Xq24-q25, encoding a protein containing two conserved zinc finger domains involved in DNA alkylation repair and premessenger RNA splicing. To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009. Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. This variant was then shown to alter DNA alkylation repair, providing an additional argument supporting its pathogenicity and important clues about the underlying pathophysiology of nonphotosensitive trichothiodystrophy. Using exome sequencing, we identified exactly the same RNF113A variant in two fetuses affected with abnormalities similar to those previously reported by Corbett et al. To our knowledge, this is the second report of a RNF113A pathogenic variant in humans.

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

OBJECTIVE: To evaluate prenatal ultrasound parameters as prognostic factors for complex and vanishing gastroschisis. METHODS: Retrospective multicentre study of 200 gastroschisis over 13 years (2000-2013). Collection of prenatal ultrasound evaluation on maternal and fetal growth parameters, intra- and extra-abdominal bowel and stomach dilation, abdominal wall defect diameter and changes in bowel appearance. Correlation of these factors with the presence of mechanical intestinal complications at birth, named 'complex gastroschisis'. RESULTS: Fifty-two patients (26%) had complex gastroschisis (CG), including ten vanishing gastroschisis. The presence of intra-abdominal bowel dilation at the second (T2) or third (T3) trimester ultrasound was predictive for CG, with odds ratios at 6.69 (95%CI 2.41-18.55) and 4.72 (95%CI 2.16-10.28), respectively, with a cut-off value at the last examination of >19 mm. A small abdominal wall defect diameter was also predictive for CG, with cut-off values of <9.2 mm at T2 and <12.5 mm at T3. Vanishing gastroschisis recorded earlier intra-abdominal bowel dilation diagnosis, associated with a small wall defect and no extra-abdominal dilation. CONCLUSION: Intra-abdominal bowel dilation and a small abdominal wall defect diameter accurately predict CG and could be a first sign of vanishing gastroschisis when they occur early. © 2016 John Wiley & Sons, Ltd.

The correlation between prenatal ultrasound and MRI in isolated periventricular pseudocysts: Analysis of 10 years' experience at the University Hospital of Angers.

BACKGROUND: Periventricular cysts are one of the most extensively documented antenatal brain lesions found through fetal ultrasound at the University Hospital of Angers. The main purpose of our study was to determine the contribution of fetal magnetic resonance imaging (MRI) and postnatal transfontanellar ultrasound (TFU) in the assessment of isolated periventricular cysts found on antenatal ultrasound at the University Hospital of Angers. METHODS: This retrospective, descriptive study was carried out over a 10-year period. Overall, 82 cases were included, divided into two groups according to the type of cysts found on the ultrasound: 13 cases of subependymal pseudocysts (SEPC) and 69 cases of frontal horn cysts (FHC). In all, 43 children underwent a postnatal TFU: seven in the SEPC group and 36 in the FHC group. RESULTS: Our study found excellent agreement between antenatal ultrasound and fetal MRI in the FHC group concerning classification of the cysts (approval rate [TA]: 98.60%; kappa coefficient [κ]: 0.85), their location (TA: 98.80%; κ: 0.91), their number (TA: 78.20%; κ: 0.73), and the detection of FHC (TA: 81.10%; κ: 0.74), as well as a good agreement concerning the detection of SEPC and temporal horn cysts (THC; TA: 99.40% and 95.60%, respectively). Fetal MRI proved to be better in the SEPC group for cyst classification (TA: 66.70%; κ: 0.33), their location (TA: 60%; κ: 0.41), and their number (TA: 53, 30%; κ: 0.45) and the detection of SEPC (TA: 23.10%; κ: 0.14). In both groups, postnatal TFU did not provide additional information compared to MRI. CONCLUSION: The finding of periventricular cysts in antenatal ultrasound should lead to a reference ultrasound, a key procedure for distinguishing between SEPC and FHC. In our study, no additional benefit from MRI and TFU was established for the evaluation of FHC. These findings should be considered as normal variants, thus limiting pre- and postnatal investigations. The visualization of SEPC, THC, or a parenchymal abnormality on the reference ultrasound should lead to an additional MRI being performed and a personalized follow-up of the child.

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.

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism. Here, we report a case for which whole exome sequencing allowed early prenatal diagnosis of Desbuquois dysplasia before the detection of characteristic ultrasound signs of the disease.

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.

Uterine Artery Embolization for Retained Products of Conception with Marked Vascularity: A Safe and Efficient First-Line Treatment.

OBJECTIVE: To report our clinical practice regarding a case series of retained products of conception (RPOC) with marked vascularity (MV) managed with selective uterine artery embolization (UAE) as first-line treatment. METHODS: This was a monocentric, retrospective study of 31 consecutive cases of RPOC with MV diagnosed by Doppler ultrasound in the context of postpartum/postabortal bleeding. The primary outcome was the absence of rebleeding following embolization. RESULTS: RPOC with MV occurred after abortion in 27 out of 31 patients (87%). The time elapsed between delivery/abortion and UAE ranged from 1 to 210 days (mean 55.7 ± 45 days). Primary clinical success was achieved in 23 women (74.2%) following a single embolization. In total, 27 out of 31 women (87%) had been exclusively managed by UAE with conservative success. Although procedural success was achieved in this number, six women had a further procedure to evacuate RPOC despite procedural success. Large uterine arteriovenous (AV) shunts associated with RPOC were observed in five cases (16.1%), among which two were successfully treated after a single UAE and one after two UAEs, while hysterectomy was performed in the last two cases despite two and three UAE procedures respectively. RPOC was histologically proven in ten cases (32.2%) including four out of five cases of uterine AV shunt. CONCLUSION: RPOC with MV can present with large uterine AV shunt, particularly in case of late management. Uterine artery embolization is an effective and safe first-line treatment, and should be evaluated for this indication in larger prospective trials.

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.

[Placenta accreta: Frequency, prenatal diagnosis and management]. / Placenta accreta : fréquence, dépistage prénatal, prise en charge.

In the last 30 years, incidence of placenta accreta has dramatically increased to reach an alarming rate of more than one in 2500 deliveries. The rate of placenta accreta increased in conjunction with cesarean deliveries. 2D-ultrasonography is an useful tool to diagnose placenta accreta. The most reliable sign is the presence of abnormal placental lacunae. The lack of visualization of the echolucent area between the placenta and the myometrium with no other ultrasound finding has a poor sensitivity and positive predictive value. 3D power Doppler is useful to increase the diagnostic performance of 2D-ultrasonography. The presence of at least two ultrasound findings decreases the number of false-positive diagnosis and increases the performance of both 2D-ultrasonography and 3D power Doppler. Magnetic resonance imaging in cases with inconclusive ultrasound features optimizes diagnostic accuracy. In cases of prenatal diagnosis of placenta accreta, extirpative method should be to date abandoned. Advantages and disadvantages of both cesarean-hysterectomy and conservative treatment should be clearly explained to the patient and her partner, who have to be involved in the decision process. Currently, it seems to be reasonable to propose a cesarean-hysterectomy to multiparous patients with no desire of future pregnancy. In young women who want the option of future pregnancy and who agree to close follow-up monitoring, conservative treatment should be preferred. When placenta accreta is diagnosed during the delivery, the two options remain possible only if attempts of removal of the placenta are stopped before the occurrence of a severe postpartum hemorrhage. In cases of placenta percreta with bladder involvement, conservative treatment may be the optimal management.

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.