Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Purpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.

Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).

One Hundred Years of Colposcopy: Reconciling Its Auschwitz Past.

The centennial anniversary of Hans Hinselmann's initial publication describing colposcopy is approaching. In the 100 years since the inventor's seminal paper, colposcopy has become indispensable in the diagnosis and management of cervical cancer. It remains central in diagnosing precancerous and cancerous cervical lesions and has dramatically reduced cervical cancer incidence and mortality since the mid-20th century.

Quantification of circulating microRNAs by droplet digital PCR for cancer detection.

Objective: Circulating cell-free microRNAs (miRNAs) which consist of short-sequence RNAs are released from cells into the blood stream and has emerged as new biomarkers in the clinical cancer diagnosis and treatment. For instance, ovarian cancer comprises one of the three major malignant tumor types in the female reproductive system. The mortality rate of this cancer is the highest among all gynecological tumors, with ovarian cancer metastasis constituting an important cause of death.

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience.

Objective: Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect.

Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.

Introduction: the use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy.

Case Report: a couple came to our Reproductive Medicine Centre for a preconceptional genetic consultation and for advice regarding secondary infertility.

Reference charts for fetal corpus callosum length: a prospective cross-sectional study of 2950 fetuses.

Objectives: The purpose of this study was to establish reference charts for fetal corpus callosum length in a convenience sample.

Methods: A prospective cross-sectional study was conducted at the Artemisia Fetal-Maternal Medical Center between December 2008 and January 2012. Among 16,975 fetal biometric measurements between 19 weeks and 37 weeks 6 days' gestation, 3438 measurements of the corpus callosum (20.

Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

Objectives: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine.

Methods: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008.

Effect of vaginally administered DHA fatty acids on pregnancy outcome in high risk pregnancies for preterm delivery: a double blinded randomised controlled trial.

Objectives: to verify whether vaginally intake of docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid, would improve length of gestation and newborn birth weight in high risk pregnancies for preterm delivery.

Methods: this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 eligible women, 31 refused to participate and 34 were enrolled and randomized with equal chance of selection, 22 were assigned to treatment group and 21 were assigned to the control group, and received placebo.

Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH.

Objective: a fetus with a ring chromosome 20 is presented.

Methods: at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety.

Thyroid physiology and common diseases in pregnancy: review of literature.

Thyroid diseases are common during pregnancy and an adequate treatment is important to prevent adverse maternal and fetal outcomes. Subclinical diseases are very frequent but not easily recognized without specific screening programs. In this article we try to summarize the knowledge on the physiologic change of the thyroid and pathological function during pregnancy; we also try to describe the best way of diagnosis and treatment of thyroid dysfunction.

Epidemiology and risk factors of amniotic band syndrome, or ADAM sequence.

Amniotic band sequence (ABS) is the term applied to a wide range of congenital anomalies, most typically limb and digital amputations and constriction rings, that occur in association with fibrous bands (1). These alterations may be associated or not with cutaneous and visceral abnormalities.This work, which is a literature review, examines several studies that relate to cases of amniotic band syndrome (SBA).

Uterine fibroids and risk for complications following second-trimester amniocentesis.

Objective: To compare the abortion rate and preterm premature rupture of membranes (PPROM) after amniocentesis in women who have undergone antibiotic prophylaxis with uterine fibroids and control.

Study Design: Retrospective study using the Antibiotic Prophylaxis before Second-Trimester Genetic Amniocentesis trial database carried out between January 1999 and December 2005 at the Artemisia Fetal-Maternal Medical Center (Rome, Italy). All women underwent antibiotic prophylaxis before amniocentesis.

Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.

A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed.

The role of ultrasonography in the diagnosis of fetal isolated complete agenesis of the corpus callosum: a long-term prospective study.

Objective: To evaluate the role of a dedicated neurosonographer in prenatal diagnosis of isolated complete agenesis of the corpus callosum (iCACC) and to asses the postnatal outcome of these infants.

Methods: Prospective study between January 2004 to December 2004 at Fetal Maternal Medical Centre 'Artemisia', Rome, Italy. A detailed ultrasound scan was performed in fetuses affected by iCACC by a dedicated fetal neurosonographer (CG).

Reference interval for fetal biometry in Italian population.

Objectives: To validate new references charts and equations for fetal biometry in an Italian unselected population.

Methods: A cross-sectional study involving 4896 women with singleton viable pregnancies, at Artemisia Fetal Maternal Medical Centre between May 2009 and December 2009. Each woman was scanned only once, between 14+0 and 40+0 weeks of gestation.

Ultrasound Scanning in Fetal Renal Pelvis Dilatation: not only Hydronephrosis.

Pelvic dilatation is the alteration of the urinary tractmost frequently detected by maternal-fetalultra-sound. Hydronephrosis is not a diagnosis; it is an imagefinding. The diagnosis is the cause that produces it.

Pregnancy outcome during haemodialysis: a case report.

Objective: Successful pregnancy outcome is an uncommon occurrence in women requiring chronic dialysis treatment.

Methods: We reported the course and outcome of a case of pregnancy occurred in a woman affected by lupus erythematosus on chronic hemodialysis.

Results: At 33rd gestational week the woman underwent to caesarean section because of starting labour.

Addison's disease and pregnancy: case report.

Objective: Addisonian crises, a rare but life-threatening event in pregnant women, may accompany stressful conditions such as labor, puerperium, infection, hyperemesis gravidarum or surgery.

Methods: A 36-year-old woman, primigravida, with Addison's disease, diagnosed when she was 10 year-old and treated with cortisone and fludrocortisone. The therapy was regulated to avoid adrenal crisis during pregnancy.

A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.

Objective: Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases.

Methods: We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele

Conclusion: First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination.

Antibiotic prophylaxis before second-trimester genetic amniocentesis (APGA): a single-centre open randomised controlled trial.

Objective: To compare procedure-related pregnancy loss after second-trimester genetic amniocentesis in women given an antibiotic prophylaxis and controls.

Methods: Prospective, open randomised controlled single-centre study between January 1999 and December 2005 at Artemisia Fetal Maternal Medical Centre. A follow-up within 4 weeks after the procedure was done.

An isolated fetal cor triatriatum dexter during a targeted anatomic survey at 22 weeks' gestation.

Objective: Cor triatriatum dexter is a rare cardiac malformation characterized by division of the right atrium into two compartments by a usually fenestrated membrane, whose degree of partitioning or septation is responsible for different clinical manifestations.

Methods: We report the first case of an isolated fetal cor triatriatum dexter that was diagnosed during ultrasound screening at 22 weeks of gestation.

Results: The sonographic examination of the fetal cardiac morphology revealed the presence of a membrane stretched between the medial and lateral walls of right atrium in the apical four-chamber view.