Angiogenic imbalance in pregnancies with preterm prelabor rupture of membranes between 34 and 37 weeks of gestation.

INTRODUCTION: This study aimed to identify whether microbial invasion of the amniotic cavity and/or intra-amniotic inflammation in women with late preterm prelabor rupture of membranes (PPROM) was associated with changes in concentrations of soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF) and its ratio in maternal serum, and whether placental features consistent with maternal vascular malperfusion further affect their concentrations. MATERIAL AND METHODS: This historical study included 154 women with singleton pregnancies complicated by PPROM between gestational ages 34+0 and 36+6 weeks. Transabdominal amniocentesis was performed as part of standard clinical management to evaluate the intra-amniotic environment. Women were categorized into two subgroups based on the presence of microorganisms and/or their nucleic acids in amniotic fluid (determined by culturing and molecular biology method) and intra-amniotic inflammation (by amniotic fluid interleukin-6 concentration evaluation): (1) those with the presence of microorganisms and/or inflammation (at least one present) and (2) those with negative amniotic fluid for infection/inflammation (absence of both). Concentrations of sFlt-1 and PlGF were assessed using the Elecsys® sFlt-1 and Elecsys® PlGF immunoassays and converted into multiples of medians. RESULTS: Women with the presence of microorganisms and/or inflammation in amniotic fluid had lower serum concentrations of sFlt-1 and sFlt-1/PlGF ratios and higher concentrations of PlGF compared with those with negative amniotic fluid. (sFlt-1: presence: median 1.0 multiples of the median (MoM), vs negative: median: 1.5 MoM, P = 0.003; PlGF: presence: median 0.7 MoM, vs negative: median 0.4 MoM, P = 0.02; sFlt-1/PlGF: presence: median 8.9 vs negative 25.0, P = 0.001). Higher serum concentrations of sFlt-1 and sFlt-1/PlGF ratios as well as lower concentrations of PlGF were found in the subsets of women with maternal vascular malperfusion than in those without maternal vascular malperfusion. CONCLUSIONS: Among women experiencing late PPROM, angiogenic imbalance in maternal serum is primarily observed in those without both microbial invasion of the amniotic cavity and intra-amniotic inflammation. Additionally, there is an association between angiogenic imbalance and the presence of maternal vascular malperfusion.

Coronary Sinus Defect, Premature Restriction of Foramen Ovale and Cysto-Colic Peritoneal Band.

Background: Unroofed coronary sinus is a congenital cardiac anomaly usually associated with persistent left superior vena cava. Premature restriction or closure of foramen ovale is described in association with hypoplastic left heart syndrome. Abdominal peritoneal bands when present manifest clinically. Case report: A 27 years, gravida 2, presented with intrauterine fetal death at 24 weeks gestation due to fetal congestive cardiac failure, cardiomegaly and hydrops. Perinatal autopsy showed absent coronary sinus with cardiac veins draining directly into the heart. There was no persistent left superior vena cava. The foramen ovale was restricted prematurely. The ductus arteriosus was present and non-restrictive. Abdomen showed a cysto-colic peritoneal band. Conclusion: This is the first report showing a triad of (1) complete absence of coronary sinus without left superior vena cava (type-II); (2) premature restriction of foramen ovale without hypoplastic left heart; and (3) a cysto-colic peritoneal band between the gall bladder and colon.

A Non-Lethal Osteogenesis Imperfecta Type II Mutation.

BACKGROUND: We discuss the ethical decision points in a case report that describes a novel COL1A1 mutation associated to Osteogenesis Imperfecta type II, but with a non-lethal outcome. CASE: A 33-year-old female underwent a 21-week ultrasound that revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Amniotic fluid testing revealed a novel COL1A1 mutation (c.1840G>A; p.Gly614Arg). OI Type II diagnosis was made. A previously reported mutation of the same gene but different locus (c.1840G>C; p.Gly614Arg) led to a lethal form of OI type II. The newborn was delivered via a cesarean delivery and intravenous bisphosphonates (Zaledronic acid) was administered every 3 months. Currently the infant is 22 months old, is growing, with mild bilateral conductive hearing loss. CONCLUSION: The unexpected clinical outcome should serve as a reminder that phenotypic variability can occur with genetic mutations. Our case shows that the diagnosis of the type of OI should be based not only on clinical findings and genetic investigations but also on the clinical course over time.

Unguarded tricuspid orifice---a rare cause of fetal right atrial dilatation with characteristic color doppler sign: Case report with review of literature.

The anatomic causes for fetal right atrial dilatation with tricuspid regurgitation include Ebstein anomaly, tricuspid dysplasia, unguarded tricuspid orifice, and Uhl anomaly. Unguarded tricuspid orifice is characterized by complete or partial agenesis of the tricuspid valvular and subvalvular structures. It is commonly associated with pulmonary atresia. Its prenatal diagnosis is usually associated with unfavorable prognosis. We present a prenatally diagnosed case of fetal unguarded tricuspid orifice with description of its diagnostic workup, along with a review of literature, to enhance the understanding of this rarely reported entity. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:370-374, 2017.

Familial Apple Peel Jejunal Atresia with Helical Umbilical Cord Ulcerations in Three Consecutive Pregnancies.

Apple peel deformity is a rare form of upper intestinal atresia of unknown etiology. Umbilical cord ulcers can occur secondary to reflux of gastric juice and bile as a result of the atresia and can cause lethal intrauterine hemorrhage. The authors report 3 instances of congenital apple peel jejunal atresia with helical umbilical cord ulcers afflicting all female offspring in consecutive pregnancies in a single nonconsanguineous family. There was no hemorrhage from the cord ulcers, but all 3 pregnancies resulted in perinatal death. Although familial occurrence is known, our case series is probably the 1st from the Indian subcontinent and warrants further research into the genetic mechanisms and possible ethnic differences of congenital upper intestinal atresia. The causation of sudden fetal demise in the absence of antecedent cord hemorrhage remains elusive.

Chorangioendothelioma of the Placenta: A Myth or Reality?

Chorangiomas of the placenta are often discovered incidentally and, although they are not common (1 in 9000 to 1 in 50 000 placentas), these tumors may be found in 0.5% to 1% of carefully examined placentas. The vast majority are of no clinical importance and complications are seen only in association with tumors measuring more than 4 cm in diameter. In contrast, hemangioendotheliomas are vascular tumors with varying grades of malignant potential and hardly ever involve the placenta. Here we describe a large placental chorangioma causing fetal hydrops and demonstrating distinctive intravascular luminal endothelial proliferation and tufting. To the best of our knowledge, this is probably only the second case of a placental hemangioendothelioma reported in the literature.

Malignant Transformation of Pelvic Endometriosis: Case Series and Review of the Literature.

Endometriosis affects 4% to 13% of all women of reproductive age although its true incidence is unknown. The ability of endometriosis to transform into malignancy, first described by Sampson in 1925, is a rare occurrence affecting 1% of lesions with ovary being the primary site in 79%. The authors describe 3 premenopausal women without risk factors for malignancy presenting with ovarian and/or extraovarian endometrioid adenocarcinoma. All of them demonstrated features of pre-/coexisting endometriosis but malignancy was preoperatively suspected in only 1 instance. Postsurgical follow-up of the cases did not document any recurrence. The propensity for malignant conversion occurring in women 10 to 20 years younger vis-a-vis those affected by de novo ovarian cancer, destruction of the endometriotic foci, and underreporting vindicate close follow-up and scrutiny of women with endometriosis and ovarian endometriomas.

Bilateral ovarian metastatic squamous cell carcinoma arising from the uterine cervix and eluding the Mullerian mucosa.

Bilateral ovarian metastasis from invasive squamous cell carcinoma of the cervix is a rare phenomenon with very few clinically significant cases described in the literature. Ovarian metastases when present are usually seen in association with bulky, advanced cervical squamous cell carcinomas with extensive involvement of the uterus.We describe a 48 year old woman with clinically normal cervix whose hysterectomy and bilateral salpingo-oophorectomy performed for abnormal uterine bleeding, demonstrated high grade squamous intraepithelial lesion, moderately differentiated squamous cell carcinoma involving the deeper stroma of the uterus and bilateral ovarian metastases. Gross examination of the cervical canal and the uterine cavity did not show tumor while well circumscribed pearly white metastatic deposits were distinguished within the parenchyma of both the ovaries. Microscopy ascertained high grade squamous intraepithelial lesion with malignant cells invading the deeper cervical stroma and disseminating further as lymphovascular tumor emboli within the myometrium of the corpus uteri without involving the endometrium. Both the fallopian tubes exhibited lymphovascular tumor emboli without epithelial involvement while the parenchyma of both the ovaries showed metastatic deposits.Although an isolated case of endophytic squamous cell carcinoma of the cervix with extensive lymphovascular invasion of the corpus uteri, both the fallopian tubes and bilateral ovarian deposits without involving either the endometrium or the tubal mucosa does not form a paradigm, this case brings to light the capricious behavior of cervical squamous cell carcinoma. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1214687069122755.

Polypoid endometriosis of the cervix: a case report and review of the literature.

BACKGROUND: Giant and multilobular endocervical polyps are rare and need to be differentiated from cervical neoplastic lesions. CASE REPORT: The authors report a 29-year-old sexually inactive woman presenting with a prolapsed giant endocervical polyp, associated with malodorous discharge and menorrhagia. The wide-based polyp originated in part from the posterior lip of the exocervix and in part from the endocervix. This trilobular pedunculated mass (90 × 50 × 35 mm) had small cysts on the surface and focal areas of haemorrhage. Microscopic examination revealed areas with classic endocervical mucosal polyp histology intimately mixed with expanses of endometrial stroma and occasional endometrial glands. Immunohistochemically the endometrial stroma showed strong CD10 positivity, glands were oestrogen and progesterone receptor positive and Ki-67 proliferation index was low. CONCLUSION: Polypoid endometriosis of the cervix is a distinct form of endometriosis that may be mistaken for a neoplasm. Five earlier reports of this entity have not described a prolapsed polyp assuming gigantic proportions. We conclude that this condition be considered in the differential diagnosis of polypoid lesions of the cervix.

Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation.

Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females presenting with hydrometrocolpos and/or vaginal atresia. Fetal autopsy findings on a 39 weeks' gestation including demonstration of corticotroph deficiency in the pituitary, along with the review of literature is being presented here. None of the earlier literature pertaining to PHS with hydrometrocolpos and/or vaginal atresia describes an intrauterine fetal demise due to corticotroph deficiency.

Bilateral intravesical ureterocele associated with unilateral partial duplication of the ureter and other anomalies: proposal of a new variant to the classification of ureterocles based on a perinatal autopsy, review of the literature and embryology.

The aims of this study were to demonstrate a case of bilateral intravesical ureterocele associated with megacystis and mega-ureters, unilateral partial duplication of the ureter and unilateral segmental renal dysplasia of the upper pole and an accessory spleen and to propose an addition of the new variant to the classification of ureteroceles. A perinatal necropsy was conducted on the 21-week fetus by employing the Rokitansky procedure with evisceration performed in blocks. The autopsy revealed the aforementioned abnormalities without cardiac or neural anomalies. The amniocentesis report was normal. Ureterocele is a saccular expansion of the distal ureter. It is most commonly observed in females and children and usually affects the upper moiety of a complete pyeloureteral duplication. Four types of ureteroceles are described: (A) ureterocele with single ureter (10%); (B) ureterocele with total duplication and intravesical development (10%); (C) ureterocele with total duplication and extravesical development (62%); and (D) ureterocele with ectopic ureter (3%). One case in a new born with bilateral intravesical ureterocele associated with hydrouretero-nephrosis and hyperechogenic spots in kidneys has been reported, but bilateral intravesical ureterocele with unilateral incomplete pyeloureteral duplication has never been described in the literature.