Congenital Nasal Bones Agenesis: Report of a Rare Malformation.

Congenital arhinia and hyporhinia are rare facial anomalies whose knowledge usually comes from case reports. The severity of each case described in literature is variable; it also depends on associated malformations too. Since the newborns are obligate nasal breathers, babies with arhinia or hyporhinia usually have respiratory distress and need airway stabilization.

Investigating the Paracrine Role of Perinatal Derivatives: Human Amniotic Fluid Stem Cell-Extracellular Vesicles Show Promising Transient Potential for Cardiomyocyte Renewal.

Cardiomyocyte renewal represents an unmet clinical need for cardiac regeneration. Stem cell paracrine therapy has attracted increasing attention to resurge rescue mechanisms within the heart. We previously characterized the paracrine effects that human amniotic fluid-derived stem cells (hAFSC) can exert to provide cardioprotection and enhance cardiac repair in preclinical models of myocardial ischemia and cardiotoxicity.

The Human Fetal and Adult Stem Cell Secretome Can Exert Cardioprotective Paracrine Effects against Cardiotoxicity and Oxidative Stress from Cancer Treatment.

Cardiovascular side effects are major shortcomings of cancer treatments causing cardiotoxicity and late-onset cardiomyopathy. While doxorubicin (Dox) has been reported as an effective chemotherapy agent, unspecific impairment in cardiomyocyte mitochondria activity has been documented. We demonstrated that the human fetal amniotic fluid-stem cell (hAFS) secretome, namely the secreted paracrine factors within the hAFS-conditioned medium (hAFS-CM), exerts pro-survival effects on Dox-exposed cardiomyocytes.

Comprehensive Profiling of Secretome Formulations from Fetal- and Perinatal Human Amniotic Fluid Stem Cells.

We previously reported that c-KIT+ human amniotic-fluid derived stem cells obtained from leftover samples of routine II trimester prenatal diagnosis (fetal hAFS) are endowed with regenerative paracrine potential driving pro-survival, anti-fibrotic and proliferative effects. hAFS may also be isolated from III trimester clinical waste samples during scheduled C-sections (perinatal hAFS), thus offering a more easily accessible alternative when compared to fetal hAFS. Nonetheless, little is known about the paracrine profile of perinatal hAFS.

Supporting data on in vitro cardioprotective and proliferative paracrine effects by the human amniotic fluid stem cell secretome.

The data and information presented here refer to the research article entitled: "Reactivating endogenous mechanisms of cardiac regeneration via paracrine boosting with the human amniotic fluid stem cell secretome" (Balbi et al., 2019, Apr 04). This dataset illustrates the in vitro paracrine effect exerted by the human amniotic fluid stem cell secretome on rodent neonatal cardiomyocytes, human endothelial progenitors and different subsets of cardiac progenitor cells.

Reactivating endogenous mechanisms of cardiac regeneration via paracrine boosting using the human amniotic fluid stem cell secretome.

Background: The adult mammalian heart retains residual regenerative capability via endogenous cardiac progenitor cell (CPC) activation and cardiomyocyte proliferation. We previously reported the paracrine cardioprotective capacity of human amniotic fluid-derived stem cells (hAFS) following ischemia or cardiotoxicity. Here we analyse the potential of hAFS secretome fractions for cardiac regeneration and future clinical translation.

Fetal surgery: an overview.

In utero fetal surgery interventions are currently considered in selected cases of congenital diaphragmatic hernia, cystic pulmonary abnormalities, amniotic band sequence, selected congenital heart abnormalities, myelomeningocele, sacrococcygeal teratoma, obstructive uropathy, and complications of twin pregnancy. Randomized controlled trials have demonstrated an advantage for open fetal surgery of myelomeningocele and for fetoscopic selective laser coagulation of placental vessels in twin-to-twin transfusion syndrome. The evidence for other fetal surgery interventions, such as tracheal occlusion in congenital diaphragmatic hernia, excision of lung lesions, fetal balloon cardiac valvuloplasty, and vesicoamniotic shunting for obstructive uropathy, is more limited.

Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.

Purpose: We sought to compare measurements of circulating cell-free DNA as well as Down syndrome test results in women with naturally conceived pregnancies with those conceived using assisted reproductive technologies.

Methods: Data regarding assisted reproductive technologies were readily available from seven enrollment sites participating in an external clinical validation trial of nested case/control design. Measurements of circulating cell-free fetal and total DNA, fetal fraction (ratio of fetal to total DNA), chromosome-specific z-scores, and karyotype results were available for analysis.

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study.

Purpose: Neural tube defects, including spina bifida and anencephaly, are the second most common birth defects with an incidence in Italy of 0.4-1/1,000. Information on factors playing a role in the pathogenesis of spina bifida is based on populations with different exposures, lifestyle, social and cultural habits compared to Italian people.

Stepwise sequential screening for trisomy 21 in assisted reproduction pregnancies.

We offered a modified stepwise sequential integrated screening for Down syndrome to 72 singleton and 16 twin pregnancies obtained with assisted reproductive techniques, observing no cases of trisomy 21 and obtaining a false positive rate of 10% in singleton and 7% in twin pregnancies. In our population, this approach for regulating access to invasive karyotyping can avoid a substantial number of unnecessary procedures, comparing favourably with current practice even in spontaneous pregnancies.

Acute premature constriction of the ductus arteriosus after maternal self-medication with nimesulide.

Objective: To describe clinical findings in a case of premature ductal constriction associated with maternal use of nimesulide, a cyclo-oxygenase type-2 inhibitor.

Methods: Case report.

Results: A mother self-administered nimesulide at 39 weeks of gestation due to lower back pain.

Association between birth weight and first-trimester free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A.

Study Objective: To assess the relationship between first-trimester maternal serum PAPP-A and free beta-hCG and birth weight.

Design: Observational study.

Setting: Teaching hospital.

Correlation between first-trimester uterine artery Doppler indices and maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A.

Objective: To assess the correlation between first-trimester uterine artery Doppler measurements and maternal serum levels of free beta-hCG and pregnancy-associated plasma protein A (PAPP-A).

Design: Observational study.

Setting: Teaching hospital.

Correlation between first trimester fetal bone length and maternal serum pregnancy-associated plasma protein-A (PAPP-A).

Background: Pregnancy-associated plasma protein-A (PAPP-A) is produced by the embryo and placenta during pregnancy, and its maternal serum concentrations are related to subsequent fetal growth. Evidence from animal models and in vitro experiments suggests that PAPP-A is particularly involved in the regulation of bone development. The aim of this study was to assess the correlation between late first trimester fetal bone length and maternal serum levels of PAPP-A.

Prenatal MR imaging of dural sinus malformation: a case report.

Objective: To describe prenatal magnetic resonance imaging (MRI) findings of dural sinus malformation (DSM), a very rare, congenital form of dural arteriovenous shunt (DAVS), typically affecting newborns.

Methods: Ultrasound (US) and MRI were performed at 34 weeks' gestation, and the findings of these examinations were compared with postnatal MRI studies performed at 2 days and 1 month.

Results: US showed an anechoic, midline posterior fossa collection with irregular internal echodensities.

First-trimester fetal nuchal translucency and inherited metabolic disorders.

Objectives: To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements.

Methods: The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed.

Results: NT was found to be within the normal range in all of the 13 affected fetuses, which included three with Gaucher disease, two with glycogenosis type II, two with mucopolysaccharidosis type I and six others with Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, Niemann-Pick A disease, Pelizaeus-Merzbacher disease and sialidosis, respectively.

Early vaginal bleeding and first-trimester markers for Down syndrome.

Objectives: To assess the effect of early vaginal bleeding on first-trimester markers for Down syndrome.

Methods: A retrospective study was conducted on 2330 normal singleton fetuses who underwent first-trimester combined screening for Down syndrome based on ultrasound and maternal serum markers. Fetal nuchal translucency (NT), maternal serum pregnancy-associated plasma protein A (PAPP-A), free beta-hCG and the false-positive rate of the test were compared between pregnancies with (n = 253) and without (n = 2077) a history of early vaginal bleeding.

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans, with a frequency of 1/16,000 live births. Different genes are implicated in the pathogenesis of HPE; these include SHH, ZIC2, SIX3, TGIF, and human DKK1. We describe here a family with recurrence of autosomal dominant HPE in different members showing a wide clinical variability.