No abstract

Introduction Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. Case report We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra‐uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. Review A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.

The role of ultrasound (US) during pregnancy is well established. However many diseases and syndromes have manifestations throughout pregnancy and life, but are not always clarified by the US which generate difficulties in counselling. Case report: 27-year-old, 2G0P (1 spontaneous abortion). Normal 1st trimester US, low-risk combined screening but low PAPP-A (0,23MoM). At 20 weeks' US showed female genitalia, an inlet perimembranous ventricular septal defect (VSD), right cardiac cavities disproportion, hyperechogenic foci on the left ventricle, persistence of the right umbilical vein, femur on the 5th centile and umbilical cord with 2 vessels. Uterine mean pulsatility index >95th centile. Fetus with both normal karyotype and array-cGH. Infectious screening was negative. Fetal echocardiogram confirmed previous cardiac findings. At 24 weeks' US, beside cardiac anomalies, long bones were below 5th centile. After genetic counselling (GC) it was decided to do a whole-exome sequence (WES) that was normal. At 28 weeks' US, type 1 fetal growth restriction (FGR) was diagnosed (2,7th centile). Currently she is 32 weeks pregnant, fetus with type 1 FGR (0,3th centile), hypoplasia of long bones, normal fetal flowmetry and abnormal placental flowmetry with cardiopathy (VSD with 4.7mm and disproportion of great vessels with a suspicion of aorta coartation). Antenatal counselling is difficult and the prognosis is uncertain, which must be shared with couple. In conclusion, this case highlights the difficulty in GC. Genetic tests were promptly performed. As the pregnancy was evolving, we came across different malformations-cardiac malformation, placental dysfunction and short long bones. At this point, WES would be important to exclude not only skeletal dysplasia, but also more complex syndromes that could help to explain the various sonographic findings. However, even with adequate GC, it is not always possible to find the explanation to US findings and predict neonatal outcome.

No abstract

Abstract“Morbidly adherent placenta” is a term that describes the continuum of placenta accreta, increta, and percreta. Placenta accreta is the least invasive form, whereas placenta percreta represents a complete penetration of the trophoblast through the uterus that reaches the serosal surface and potentially invades the bladder, rectal wall, and pelvic vessels. Leaving the placenta in situ in the setting of abnormally invasive placenta is now widely practiced. We herein present three cases of abnormal placental implantation diagnosed by antenatal ultrasound and magnetic resonance imaging, in which uterine artery embolization was performed to induce placental infarction and eventually rapid regression but most importantly to minimize peripartum and postpartum bleeding. As we do this, we sought to review the risks of placenta accreta, increta, and percreta and evaluate the role of endovascular therapy to improve maternal outcomes when abnormal placental implantation occurs.