Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.

Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in OCRL gene was identified, inherited from the mother, which led to the diagnosis of Lowe syndrome in the fetus. Conclusions: This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the OCRL gene.

Low-dose aspirin to prevent preeclampsia and growth restriction in nulliparous women identified by uterine artery Doppler as at high risk of preeclampsia: A double blinded randomized placebo-controlled trial.

INTRODUCTION: This trial evaluates whether daily low-dose aspirin initiated before 16 weeks of gestation can reduce preeclampsia and fetal growth restriction in nulliparous women identified by first-trimester uterine artery Dopplers as at high risk of preeclampsia. METHODS: This randomized, blinded, placebo-controlled, parallel-group trial took place in 17 French obstetric departments providing antenatal care. Pregnant nulliparous women aged ≥ 18 years with a singleton pregnancy at a gestational age < 16 weeks of gestation with a lowest pulsatility index ≥ 1.7 or a bilateral protodiastolic notching for both uterine arteries on an ultrasound performed between 11+0 and 13+6 weeks by a certified sonographer were randomized at a 1:1 ratio to 160 mg of low-dose aspirin or to placebo to be taken daily from inclusion to their 34th week of gestation. The main outcome was preeclampsia or a birthweight ≤ 5th percentile. Other outcomes included preeclampsia, severe preeclampsia, preterm preeclampsia, preterm delivery before 34 weeks, mode of delivery, type of anesthesia, birthweight ≤ 5th percentile and perinatal death. RESULTS: The trial was interrupted due to recruiting difficulties. Between June 2012 and June 2016, 1104 women were randomized, two withdrew consent, and two had terminations of pregnancies. Preeclampsia or a birthweight ≤ 5th percentile occurred in 88 (16.0%) women in the low-dose aspirin group and in 79 (14.4%) in the placebo group (proportion difference 1.6 [-2.6; 5.9] p = 0.45). The two groups did not differ significantly for the secondary outcomes. CONCLUSION: Low-dose aspirin was not associated with a lower rate of either preeclampsia or birthweight ≤ 5th percentile in women identified by their first-trimester uterine artery Doppler as at high risk of preeclampsia. TRIAL REGISTRATION: (NCT0172946).

Prenatal and postnatal evolution of isolated fetal splenic cysts.

OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal, and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0.3%) had a prenatal diagnosis of fetal splenic cysts. Median gestational age at diagnosis was 30.1 weeks. A unique cyst was present in 78.6%, whereas 2 cysts were observed in 14.3% and 3 cysts in 7.1%. During the pregnancy, cysts remained the same (78.6%) or disappeared (21.4%). Ultrasound scans at 6 months of age found total disappearance of the cysts (36.4%), spontaneous reduction from 2 to 1 cyst (18.2%) or persistence of the cysts (45.4%). CONCLUSION: Fetal splenic cysts are rare images, always isolated, usually unique and mainly found during third trimester of pregnancy. Their evolution is to disappear spontaneously during pregnancy or at 6 months of age leaving only half of them to remain beyond that age but without any symptoms.

Second- and third-trimester management of medical termination of pregnancy and fetal death in utero after prior caesarean section.

OBJECTIVES: To evaluate the results and risks of a protocol for second- and third-trimester termination of pregnancy after prior caesarean section. STUDY DESIGN: This is a retrospective study, conducted in a level 3 (university hospital) maternity unit between January 2001 and September 2008. 67 women with a history of caesarean section underwent second- and third-trimester termination of pregnancy. The protocol was administration of 600 mg mifepristone the first day and application of laminaria tents the second day. One the third day, 48 h after mifepristone, two 200 µg tablets of misoprostol were given orally every 3 h until delivery. Epidural analgesia was performed routinely. Complications analysed were uterine rupture, labour lasting over 12 h, and bleeding requiring blood transfusion. RESULTS: Delivery was vaginal in 64 cases (95.5%), a median 4 h 20 min (P25: 3 h 5 min, P75: 7 h 7 min) after administration of misoprostol (median number of tablets 2; P25: 2, P75: 4). The median number of tablets of misoprostol was significantly higher for termination of pregnancy than for fetal death in utero (4 vs. 2; p=0.002). The rate of uterine rupture was 4.8% [95% CI: 1.2-14.2]. Bleeding during delivery requiring a transfusion occurred in 2 cases (3.0%; 95% CI: 0.5-11.3). CONCLUSION: A high rate of vaginal delivery was achieved at low doses of misoprostol, with a short median induction-to-delivery interval, and a rate of uterine rupture higher than that observed during attempted vaginal delivery at term in a caesarean scar pregnancy. The rate of severe bleeding during delivery was low.

First report of a necrotising fasciitis of the breast following a core needle biopsy.

Necrotising fasciitis (NF) is the most aggressive form of soft tissue infection. We report the first case of NF of the breast following a core needle biopsy. Aggressive management including surgical debridement and vacuum therapy allowed wound healing and breast conservation.