Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.

Purpose/aim of the study: We report a rare case of autosomal dominant genetic syndrome "Pfeiffer", which is part of the group of acrocephalosyndactyly, with an annual incidence <1/100,000. Three forms are known. Type I is the less common form and it is characterized by moderate-severe mediofacial hypoplasia usually with normal cognitive development. Conversely, types 2 and 3 are more common and they are associated with more severe signs and complications with a more unfavorable prognosis. The type 3 form due to the presence of a cloverleaf skull distinguishes type 2.Materials and methods: Thirty-eight-year-old primigravida was referred to our center, at 28 weeks of gestation due to borderline ventriculomegaly, macrocrania, and a short femur. First trimester screening for chromosomopathies and CF-DNA was low risk; II trimester screening ultrasound showed the presence of "short femur" and macrocrania.Result: Our ultrasound evaluation, assisted by 3D ultrasound, showed cloverleaf skull, turricephaly, moderate ventriculomegaly (13 mm), hypertelorism and exophthalmos, low ear implantation, mild rhizomelia. Ultrasound depicts Pfeiffer syndrome or other acrocephalosyndactyly syndromes (Apert syndromes, Saethre-Chotzen) or other syndromic forms of craniosynostosis like Crouzon syndrome. The NGS panel for molecular analysis of genes involved in skeletal dysplasias showed the mutation of the FGFR2 gene, de novo.Conclusions: Using three-dimensional (3D) ultrasound, it is easier to distinguish rare syndromes characterized by facial dysmorphisms such as exophthalmos, mediofacial hypoplasia, and craniosynostosis.

Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study.

OBJECTIVE: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. METHOD: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonography had been performed. The primary outcome was the rate of additional CNS anomalies detected exclusively at fetal MRI within two weeks from neurosonography. Subgroup analyses according to gestational age at MRI (

Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies.

OBJECTIVE: To examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cfDNA test for common trisomies. METHODS: In 486 singleton pregnancies undergoing invasive testing after combined screening, a detailed first trimester ultrasound assessment was carried out and a maternal blood sample was sent for cfDNA analysis. Ultrasound and cfDNA data were analyzed in relation to fetal karyotype. RESULTS: Invasive testing demonstrated a chromosomal abnormality in 157 (32.3%) of 486 fetuses. In 348 cases with a low-risk cfDNA test for common trisomies, NT ≥ 3.5 mm and/or a major structural defect were observed in 92 (26.4%) fetuses. A chromosomal abnormality was found in 17 (18.5%; 95%CI 10.55-26.41) of these pregnancies, including 1 (1.1%) case of trisomy 21 and 16 (17.4%) fetuses with abnormalities different from common trisomies. The respective incidence in the 256 cases with a low-risk cfDNA test result and no ultrasound anomalies was 2.3% (95% CI 0.49-4.20; n = 6). CONCLUSIONS: In fetuses with first trimester ultrasound anomalies and a low-risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies.

Tetralogy of Fallot and Outlet Ventricular Septal Defect with Anterior Malalignment Detected at Early Fetal Echocardiography.

OBJECTIVES: To examine the evolution of tetralogy of Fallot (TOF) and outlet ventricular septal defect (VSD) with anterior malalignment (am) from the initial diagnosis at early fetal echocardiography through the gestation and to evaluate the impact of the first-trimester scan on the outcome. METHODS: We identified cases of TOF or outlet VSD with am diagnosed before 16 weeks' gestation. For all cases, prenatal data and pregnancy outcomes were evaluated. In continuing pregnancies, the evolution in severity of the disease was assessed. RESULTS: Fifty-one fetuses with TOF or outlet VSD with am were diagnosed at early fetal echocardiography. Parents opted for termination of pregnancy in all 23 cases associated with additional anomalies. In 2 of 28 continuing pregnancies, there was an intrauterine death. In the remaining 26, there was progression in severity in 7 (by 20-22 weeks in 3 cases and during the third trimester in the remaining 4). CONCLUSIONS: TOF and outlet VSD with am diagnosed before 16 weeks' gestation can progress in severity throughout pregnancy in over one-quarter of cases. In addition, a high proportion of cases diagnosed in the first trimester may have associated extracardiac anomalies, with a significant impact on clinical management and on the rate of early termination of pregnancy.

In-office Hysteroscopic Treatment of Herlyn-Werner-Wunderlich Syndrome: A Case Series.

Herlyn-Werner-Wunderlich syndrome (HWWs) is a rare congenital malformation of the female urogenital track characterized by a triad consisting of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis. We report 5 consecutive cases of patients diagnosed with HWWs treated in our center. Imaging studies with 2-dimensional/3-dimensional ultrasound and abdominopelvic magnetic resonance imaging were obtained to confirm the diagnosis. The treatment consisted of a 1-step surgical in-office hysteroscopic incision of the vaginal septum using 5 Fr hysteroscopic bipolar electrodes. At the follow-up visit, between 1 and 2 months after the initial procedure, the patients underwent a diagnostic vaginoscopy with excision of exceeding vaginal tissue if needed, performed with a vaginal hysteroscopic approach. In-office hysteroscopic treatment of patients diagnosed with HWWs is a safe and effective, minimally invasive treatment modality that provides symptomatic relief and preserves fertility, avoiding the cost and risks of the use of general anesthesia in an operating room setting. We recommend shifting the management of this challenging condition to the office setting.

VBAC: antenatal predictors of success.

To determine antenatal factors that may predict successful vaginal birth after Caesarean section (VBAC), to develop a relevant antenatal scoring system and a nomogram for prediction of vaginal birth after caesarean delivery. A non recurring indication for previous Caesarean section (CS), such as breech presentation or foetal distress, is associated with a much higher successful VBAC rate than recurrent indications, such as cephalopelvic disproportion (CPD). Prior vaginal deliveries are excellent prognostic indicators of successful VBAC, especially if the vaginal delivery follows the prior CS. A low vertical uterine incision does not seem to adversely affect VBAC success rates as compared to a low transverse incision. Maternal obesity and diabetes mellitus adversely affect VBAC outcomes. Foetal macrosomia does not appear to be a contraindication to VBAC, as success rates exceeding 50% are achieved and uterine rupture rates are not increased. An inter-pregnancy interval of <24 months is not associated with a decreased success of VBAC. Success rates decrease when interval increases. Twin gestation does not preclude VBAC. Post-dates pregnancies may deliver successfully by VBAC in greater than two-thirds of cases. There are few absolute contraindications to attempted VBAC. Attempted VBAC will be successful in the majority of attempted cases.

Conservative treatment in early stage endometrial cancer: a review.

Endometrial Cancer (EC) is the commonest gynecological cancer and its incidence is increasing. The diagnosis of endometrial carcinoma in young women of childbearing age is rare. Indeed, only 4% of patients with endometrial carcinoma are <40 years of age. It's typically diagnosed in postmenopausal women. The standard approach for the management of endometrial cancer in young women of childbearing age is hysterectomy and bilateral salpingo-oophorectomy with or without lymphadenectomy but is not ideal for women interested in future fertility. We reviewed the published literature to clarify in fertile women who have not yet fulfilled their desire for motherhood, what are the strategies, the risks of a conservative treatment of early stage of Endometrial Cancer and what are the obstetric outcomes in this patients. Recently, several studies have reported encouraging results on fertility-sparing management of EC with high dose of progestins in selected women associated or not with hysteroscopic resection.

Ultrasound diagnosis of uterine myomas.

Myomas represent a large part of benign gynecological pathology, widely spread in fertile female population. First step to diagnose fibroids is ultrasound (US) that can be 2-dimensional (2D), 3-dimensional (3D), Color Doppler (CD) and sonohysterography (SHG). This review develops according to MUSA's sonographic features (Morphological Uterus Sonographic Assessment). One of the main topic of interest for ultrasonographer today is endo/myometrial junctional zone (JZ), because it may be useful to discern a diagnosis of myoma and adenomyosis. Another important aspect of ultrasound is the analysis of vascularization in front of a uterine lesion. Indeed, vascular pattern can be used to make differential diagnosis between myoma-adenomyosis and leiomyosarcomas. Myomas should be described accurately according to sonographic guidelines. Sonographic features correlated with symptoms should guide an appropriate surgical or medical treatment.