Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

PURPOSE: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy. METHODS: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy. RESULTS: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes. CONCLUSION: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants.

Immediate postpartum assessment of the anal sphincter by endovaginal ultrasound: An experimental study.

INTRODUCTION AND HYPOTHESIS: Obstetric anal sphincter injuries are frequently missed and carry a significant risk for the development of anal incontinence. Immediate postpartum endoanal ultrasound increases identification of these injuries but is rarely employed. We hypothesize that endovaginal ultrasound could be a feasible and easily available alternative sonographic tool to improve early diagnosis of anal sphincter tears. METHODS: We conducted a prospective experimental study including 160 primiparous women. Shortly after vaginal delivery, patients underwent clinical and sonographic perineal examinations. We analyzed the feasibility of anal sphincter assessment by endovaginal ultrasound and its potential contribution in the early diagnosis of anal sphincter injuries. RESULTS: Sonographic assessment of the anal sphincter was analyzable for 136 patients (85.0%). Causes of non-analyzability included air artifacts (6.9%), lack of distinction between the external anal sphincter and surrounding tissues (9.4%) and distortion artifacts (9.4%). Patients in the non-analyzable ultrasound subgroup were less likely to have delivered in a dorsal lithotomy position (62.5% vs. 85.3 %) and more likely to have had an episiotomy (33.3% vs. 14.0%), and their risk of sphincter injury was more frequently classified as "improbable" on clinical examination (91.7% vs. 61.0%). Ultrasounds were analyzable for 96.4% of patients clinically reported as having "possible" or "certain" sphincter injuries. The incidence of anal sphincter injury was 16.9% for clinical observation and 20.0% with associated sonographic examination. CONCLUSIONS: Endovaginal ultrasound could be used as a complementary tool in assessment of the anal sphincter in high-risk patients. Its feasibility and easy availability make this technique a promising tool for improving the management of anal sphincter tears.

Immediate postpartum assessment of the anal sphincter by endovaginal ultrasound: a new technical approach.

INTRODUCTION AND HYPOTHESIS: In this study we described a new technical approach to adapt endovaginal ultrasound scanning of the anal sphincter complex to the immediate postpartum period. METHODS: We analyzed the clinical and ultrasonographic examinations of 18 primiparous women presenting deep perineal tears with potential or clearly identified lesions of the anal sphincter. Potential anal sphincter lesion was defined as a second degree perineal tear extending close to the anal sphincter with exposition of its capsule or muscular fibers. We reported interesting ultrasonographic images explaining our technique in a video. RESULTS: We reported clinical and ultrasonographic features in nine cases of grade 2, four cases of grade 3a, four cases of grade 3b and one case of grade 3c perineal tears. The ultrasonographic examination confirmed the intact state of the anal sphincter complex in all patients with clinical grade 2 tears except one in which a grade 3b lesion was detected. We were not able to identify external anal sphincter lesions on ultrasound in any of the patients with clinical grade 3a tears. In patients with clinical grade 3b tears, the ultrasound confirmed the external anal sphincter lesion in all cases, but revealed additional involvement of the internal anal sphincter in 1 case (grade 3c). CONCLUSION: Immediate postpartum endovaginal ultrasound could be a promising technique to improve the management of perineal traumas after vaginal delivery.

Maternal outcomes in first and second trimester termination of pregnancy: which are the risk factors?

AIMS: To evaluate maternal complications of first trimester and second trimester termination of pregnancy (TOP) performed after first or second trimester positive prenatal diagnosis (PD). RESULTS: We performed a retrospective study from January 2007 to December 2011, on 844 patients, who underwent a TOP after positive amniocentesis or chorionic villus sampling (CVS) for foetal aneuploidies, performed for maternal age ≥35 years of age, positive prenatal screening (PS) or for genetic reasons. Exclusions criteria were gestational age >22+0 weeks, twin pregnancy and co-existing maternal pathologies. We compared maternal complications of first trimester and second trimester TOP and we established which risk factors were correlated to higher maternal complications (haemorrhages, transfusion, repeated uterine curettage and infections). Maternal complications were significantly higher in second trimester TOP. Previous uterine surgery is a significant risk factor for maternal complications in second trimester TOP, but not in first trimester TOP. Six uterine ruptures and three hysterectomies occurred, all in multiparous women with second trimester TOP. All uterine ruptures occurred in women with previous caesarean sections. CONCLUSIONS: First trimester TOP in women with risks factors for maternal complications guarantees better maternal outcomes and less health costs. Thus, in these women we should prefer a first trimester PS and PD.

Fertility-sparing surgery for borderline ovarian Brenner tumor and subsequent childbirth: First case report and a literature review.

Borderline ovarian Brenner tumors are rare malignancies mainly diagnosed after menopause. A first pregnancy after fertility-sparing surgery by laparoscopic unilateral salpingo-oophorectomy was reported in a previous article. We now report the first baby birth after unilateral salpingo-oophorectomy for a borderline ovarian Brenner tumor and a review of the literature.

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.

In cases of fetal hydrops, searching for an etiology is essential to evaluate the fetal prognosis and propose the most appropriate management.

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.

Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

Ultrasound accuracy in prenatal diagnosis of abnormal placentation of posterior placenta previa.

OBJECTIVES: To evaluate the accuracy of ultrasound in prenatal diagnosis of Placenta accrete spectrum disorders in patients with posterior placenta previa, and to assess the impact of prenatal diagnosis in our population. STUDY DESIGN: We prospectively enrolled 198 women with posterior placenta previa from 2011 to 2017. We performed transabdominal and transvaginal ultrasound examinations (Grey-scale and colour/power Doppler). The diagnosis of placenta accreta spectrum disorders was based on detection of at least two of the following criteria: loss of retroplacental clear zone, interruption of uterine serosa-bladder wall interface, turbulent placental lacunae with high velocity flow, myometrial thickness <1 mm, increased vascularity of uterine serosa-bladder wall interface, loss of vascular arch parallel to basal plate and/or irregular intraplacental vascularization. Definitive diagnosis was made at delivery with Caesarean section. Furthermore, we compared maternal outcomes in cases diagnosed antenatal versus that one's diagnosed at delivery. RESULTS: There were 20/198 cases of placenta accreta spectrum disorders. The two-criteria system identified 12 cases of placenta accreta, providing a 60.0% of sensitivity, 98.8% of specificity, 85.7% of positive and 95.7% of negative predictive value. Maternal outcomes were better in women with prenatal diagnosis of placenta accreta spectrum disorders, although not statistical significant. CONCLUSIONS: Our data showed that grey-scale and Color-Doppler ultrasound evaluation for detecting placenta accreta spectrum disorders on posterior placenta previa have high specificity, positive and negative predictive value, but a low sensitivity. Nevertheless, an antenatal diagnosis of placenta accreta spectrum disorders for posterior placenta previa should be encouraged.

Unusual association of brain hemorrhage and digestive tract occlusion: about two prenatal cases.

We report two prenatal cases of an exceptional association of digestive tract atresia or perforation with brain hemorrhage. This combination worsens the prognosis leading to termination of pregnancy in one case. We outline the importance of a careful fetal brain examination on imaging in cases of prenatal "acute" abdominal insults.