Claudio Giorlandino

• MD
• Head of Department at ALTAMEDICA Fetal–Maternal Medical Centre

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...

Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping...

Background. The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported as 2 in 10,000 births, and the etiology has been attributed to genetic causes. Case Presentation. The present s...

Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2–3% of live births and 20% of spontaneous miscarriages. This study aims to identify the genetic cause of ultrasound anomalies through clinical exome se...

A routine methodologies to detect germline copy number variants (CNVs) are ArrayCGH, and SNParray, while clinical exome sequencing (CES) it is not a standard methods used in clinical settings. This study aims to investigate the efficiency of CNVs identification by CES in the diagnosis of Autism spectrum disorder (ASD) based on a Italian cohort. In...

There is evidence that complex disease and mortality are associated with DNA methylation (DNAm) and age acceleration. Numerous epigenetic clocks, including Horvath, Hannum, DNA PhenoAge, DNA GrimAge, and DunedinPoAm continue to be developed in this young scientific field. The most well-known epigenetic clocks are presented here, along with informat...

Coronavirus disease 2019 (COVID-19), caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapidly resulted in a pandemic constituting a global health emergency. As an indicator of long-term immune protection from reinfection with the SARS-CoV-2 virus, the presence of memory B cells (MBCs) should be evaluated. Since the...

Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalance...

Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a small oral aperture with or without a tongue hypoplasia. Its incidence is reported as 1 in 70,000 births and its...

Since 2020, the COVID-19 pandemic has spread worldwide, causing health, economic, and social distress. Containment strategies rely on rapid and consistent methodology for molecular detection and characterization. Emerging variants of concern (VOCs) are currently associated with increased infectivity and immune escape (natural defence mechanisms and...

The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal dele...

The novel Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) and the associated disease Coronavirus Disease 2019 (COVID-19) continues to spread throughout the world, causing millions of infections and dead. One major question in predicting the course of the COVID-19 pandemic is how well and how long the immune response protect the host fr...

Advanced ovarian cancer is one of the most lethal gynecological tumor, mainly due to late diagnoses and acquired drug resistance. MicroRNAs (miRNAs) are small-non coding RNA acting as tumor suppressor/oncogenes differentially expressed in normal and epithelial ovarian cancer and has been recognized as a new class of tumor early detection biomarkers...

The novel severe acute respiratory syndrome coronavirus (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) continue to spread throughout the world, causing more than 120 million infections. Several variants of concern (VOCs) have emerged and spread with implications for vaccine efficacy, therapeutic antibody treatments, and possibl...

Background: Since 2020, the COVID-19 pandemic spread worldwide causing health, economic, and social distresses. Containment strategy relay on rapid and consistent methodology for molecular detection and characterization. The emerging variants of concern (VOCs) are currently associated with increased infectivity, and immune escape (natural defense m...

Background Since 2020, the COVID-19 pandemic spread worldwide causing health, economic, and social distresses. Containment strategy relay on rapid and consistent methodology for molecular detection and characterization. The emerging variants of concern (VOCs) are currently associated with increased infectivity, and immune escape (natural defense me...

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 abe...

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...

Prenatal testing has been moving towards non-invasive methods to determine fetal risk for genetic disorders. Numerous studies have focused the attention on common trisomies; although the detection rate (DR) for trisomy 21 is high (over 95%), the accuracy regarding the DR for trisomies 13 and 18 has come under scrutiny. The testing has been applied...

Objective: A novel type of Coronavirus was identified in China in December 2019. The first cases of a form of pneumonia of unknown etiology were detected at the beginning of that month in Wuhan. The virus is believed to have emerged at the Wuhan Huanan Seafood Market, where transmission of a zoonotic pathogen to humans occurred. Patients and meth...

The need for timely establishment of a complete diagnostic protocol of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is demanded worldwide. We selected 15 positive novel coronavirus disease 19 (COVID-19) patients with mild or no symptom. Initially, fecal samples were negative in the 67% (10/15) of the cases, while 33% (5/10) of the c...

Introduction Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chrom...

Objective : Noninvasive 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 aber...

The need for timely establishment of diagnostic assays of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is demanded in laboratories worldwide. We evaluated the performance of a flow immunoassay which can detect IgM an IgG antibodies simultaneously against SARS-CoV-2 virus in human blood within 15 min. Among the 132 positive novel Cor...

During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represented by the cell-free fetal DNA (cffDNA), constituting an accessible source for noninvasive prenatal genetic screening. The coexistence of the maternal DNA, the dominant fraction of cell-free DNA, together with the cffDNA component and the scarcity of th...

Background: The aim of this study is to evaluate the role of "soft markers" in the prediction of Down syndrome (DS). Methods: This study includes an unselected population of 1999 pregnant women who requested a fetal karyotype test using amniocentesis at gestational ages ranging from 15 to 20 weeks. Before performing the amniocentesis, an ultrasound...

Gastroschisis is a congenital abdominal wall defect and its management remains an issue. We performed a review of the literature to summarize its evaluation, management and outcome and we describe a new type of surgical reduction performed in our center without anesthesia (GA), immediately after birth, in the delivery room. Between January 2002 and...

Gastroschisis is a congenital abdominal wall defect and its management remains an issue. We performed a review of the literature to summarize its evaluation, management and outcome and we describe a new type of surgical reduction performed in our center without anesthesia (GA), immediately after birth, in the delivery room. Between January 2002 and...

Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, an...

Purpose: Maternal age is a crucial factor in fetal aneuploidy screening, resulting in an increased rate of false-positive cases in older women and false-negative cases in younger women. The absolute risk (AR) is the simplest way to eliminate the background maternal age risk, as it represents the amount of improvement of the combined risk from the...

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...

Purpose: Low levels of plasmatic pregnancy-associated plasma protein-A (PAPP-A) and high levels of free-beta human chorionic gonadotropin (beta-hCG) could influence the outcome of pregnancy. The objective of this study is to assess the correlation between PAPP-A and free beta-hCG and birth weight. Materials and methods: Prospective follow-up stu...

Introduction: Since the introduction of the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE/ESGE) classification of Mullerian anomalies, various authors have raised major concern about its clinical implications, as specific diagnostic criteria that clearly correlate to pregnancy have not ye...

Objective To evaluate the accuracy of ultrasound in visualizing placental cord insertion (PCI) at different gestational ages in order to recommend the most feasible period during pregnancy to identify it. Secondary aim was to propose a predictive algorithm for PCI visualization. Methods We performed a single-center, prospective cohort study. We en...

Ectopic pregnancy is characterized by implantation of an embryo outside the uterine cavity and usually is located in the distal portion of the fallopian tube. The common triade of symptoms includes: abdominal pain, vaginal bleeding and amenorrhea. The ectopic pregnancy is still considered an important cause of death in the first trimester of pregna...

Objective: To establish reference charts for fetal cerebellar vermis height in an unselected population. Methods: A prospective cross-sectional study between September 2009 and December 2014 was carried out at ALTAMEDICA Fetal-Maternal Medical Centre, Rome, Italy. Of 25203 fetal biometric measurements, 12167 (48%) measurements of the cerebellar...

Objectives: The purpose of this study was to estimate the rate of incomplete fetal anatomic surveys during a second-trimester scan due to an unfavorable fetal position in a nonobese population. Methods: All pregnant women who came to the Altamedica Fetal-Maternal Medical Center, a specialized center for prenatal diagnosis, for a routine second-t...

What's already known about this topic? To date, a great effort has been made to introduce NGS prenatal diagnosis, both in noninvasive prenatal testing for the detection of aneuploidy associated to chromosomes 21, 18 and 13 and, in the latest studies, for single gene disorder analysis, and in invasive prenatal diagnosis for single gene disorder and...

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 Ce...

Introduction: recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly fro...

Objective: Nuchal translucency (NT) seen ultrasonographically at 11-14 weeks' gestation is a sensitive marker for Down syndrome. Despite its important role for Down syndrome screening, its use is still considered controversial due to high false-positive rates. We speculated that progesterone could lead to abnormal blood flow patterns and, subseque...

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...

In the last decades cesarean section rates increased in many countries becoming the most performed intraperitoneal surgical procedure. Despite its worldwide spread, a general consensus on the most appropriate technique to use has not yet been reached. The operative technique performed is made chiefly on the basis of the individual experience and pr...

fallopian tube choriocarcinoma coexistent with viable intrauterine pregnancy is an extremely rare condition. we present the first case reported in literature of tubal choriocarcinoma coexistent with viable intrauterine pregnancy detected at early gestational age (20 weeks) and successfully managed by seriate monitoring of maternal and fetal health...

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. a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum par...

prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies...

to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trimester genetic amniocentesis. Patients were excluded from the study gro...

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. this study was a randomized, double-blind, controlled, clinical trial, including women at high risk for preterm delivery. Of 74 elig...

placental mesenchymal dysplasia (PMD) is a rare placental anomaly characterized by placentomegaly and grape-like vesicles which resemble molar pregnancy. we report the case of 33-year-old woman (1-gravid) who visited our clinic at 11 weeks of gestation due to a suspected molar pregnancy. Ultrasound examination showed an enlarged placenta with multi...

Spontaneous miscarriage is the commonest complication of pregnancy. It occurs in up to 20% of clinical pregnancies. Most miscarriages occur as a result of a chromosomal or genetic problems in the developing embryo. In a sense they are nature's way of dealing with a pregnancy where the baby is likely to be born with serious physical or mental handic...

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...

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...

a fetus with a ring chromosome 20 is presented. at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was exte...

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. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16)] and array comparat...

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. Retrospective study using the Antibiotic Prophylaxis before Second-Trimester Genetic Amniocentesis trial database carried out between January 1999 and December 2005...

Physiologic concentration in amniotic fluid (AF) of several metabolites has not been established with certainty. In this study, we initially assayed purines, pyrimidines, and amino compounds in 1,257 AF withdrawn between the 15th and the 20th week of gestation from actually normal pregnancies (normal gestations, normal offspring). Results allowed t...

The present study aims to evaluate a set of oxidative stress biomarkers in the amniotic fluid (AF) of women carrying Down syndrome (DS) fetuses that could prove in vivo the early occurrence of oxidative damage in DS. To assess the extent of protein oxidation in DS AF, we measured protein carbonylation and protein-bound HNE by slot-blot analysis, to...

Prenatal diagnosis of urinomas has long been established with underlying obstructive uropathy generally responsible for urinary extravasation. Because urinoma formation represents a pop-off mechanism in cases of posterior urethral valves, the number of affected males greatly exceeds the number of females. Fetal urinoma has rarely been reported with...

Shoulder Dystocia (SD) is the nightmare of obstetricians. Despite its low incidence, SD still represents a huge risk of morbidity for both the mother and fetus. Even though several studies showed the existence of both major and minor risk factors that may complicate a delivery, SD remains an unpreventable and unpredictable obstetric emergency. When...

The aim of the study is to evaluate the role of Denaturing High Performance Liquid Chromatography (DHPLC) in the second level screening of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. A 9-month prospective study, between June 2008 and March 2009 at Artemisia Fetal Medical Centre, included 3829 samples of amniotic fluid colle...

The detection of limb abnormalities, using prenatal ultrasonography, is important to provide an appropriate genetic counceling. Limb abnormalities, isolated or associated with other abnormalities, can be the result of malformations, deformations or disruptions. When limb abnormalities are associated with other detectable abnormalities, they are mor...

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. Prospective study between January 2004 to December 2004 at Fetal Maternal Medical Centre 'Artemisia', Rome, Italy. A detailed ultrasound scan was performed in fe...

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

Oligohydramnios (OA) is nowadays regarded as one of the best markers of renal function (RF) impairment in bladder outlet obstruction (BOO) detected in utero. As such, its onset is usually early and progressive because of decline in fetal urine production. A series of acute OA complicating pregnancies with BOO has never been reported. Over a 7-year...

Amniotic fluid (AF), routinely used for prenatal diagnosis, contains large amounts of proteins produced by the amnion epithelial cells, fetal tissues, fetal excretions and placental tissuesAlthough many amniotic fluid proteins have been identified and are currently used to detect potential fetal anomalies, little is known about the functions of the...

To compare procedure-related pregnancy loss after second-trimester genetic amniocentesis in women given an antibiotic prophylaxis and controls. 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.Of 36,3...

Background/PurposeFetal ovarian cysts are frequently complicated by intracystic hemorrhage without associated clinical signs, which is often secondary to ovarian torsion leading to loss of the ovary. The aim of this study was to evaluate ovarian outcome and the place of prenatal management and surgery in the first few days of life in order to save...

Most ovarian disorders, are benign, with the majority being functional ovarian cysts and benign neoplasms. They are common in gynecologic practice. They can be found with a 7% prevalence in women more than 50 years old and asymptomatic premenopausal women. Transabdominal or transvaginal ultrasound examination can often aid in diagnosis and risk ass...

Congenital Heart Disease (CHD) is the most common severe congenital abnormality in the newborn and the cause of over half the deaths from congenital anomalies in childhood. Prenatal diagnosis, possible as early as 15 weeks of gestation, allows physicians and families the greatest number of therapeutic options, and can improve the postnatal outcome....

The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesi...

To compare fetal biometric measurements with standard growth charts for ultrasound parameters existing from the last 30 years. A preliminary prospective study. Artemisia Mean Centre of Perinatal Diagnosis, Rome,Italy. A cross sectional study involving 1000 pregnant women with uncomplicated singleton pregnancy between 14(th) and 41(th) weeks of gest...

The SCA-TEST, Prenatal Aneuploidies Screening, is an innovating program with very articulated and differentiated calculation potentials. It is a software which allows executing a sequence-like rational screening involving the ultrasound study of the first and second trimester. The program enables to execute a complete and different- levels combined...