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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., (© 2020 John Wiley & Sons Ltd.)

Objective: The aim of the study was to evaluate the feasibility of obtaining the three-vessel and trachea view (3VTV) in an unselected population undergoing first trimester screening for aneuploidy, and to investigate its role in the early detection of congenital heart defects (CHD)., Methods: Cardiac examination was performed by expert sonographers. Abnormal findings of 3VTV were classified in three different subgroups: number, size and spatial relationship of the vessels., Results: We enrolled 6350 consecutive singleton pregnancies and included 5343 cases. Examination of 3VTV was feasible in 94% of cases. Fifty-seven (1%) CHD were present in the study period; 24 cases were excluded because parents opted for termination of pregnancy. Of the remaining 33 cases, 25 were suspected at the first trimester and eight were detected only at the mid-trimester. An abnormal 3VTV was suspected in 22 cases, and it was confirmed in 21. Five cases that were erroneously classified in the subgroup of abnormal vessel number were actually characterized by a diminutive size of one of the great arteries. The detection rate for CHD, including 4-CV and 3VTV, was 75.8%., Conclusions: Our study demonstrates that 3VTV is an easy plane to obtain by expert sonographers in an unselected population during first trimester. Typical suspicions include detection of abnormal number, size or spatial relationship of the vessels. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Objective: The objective of this study was to investigate a strategy for clinical implementation of cell-free DNA (cfDNA) testing in high-risk pregnancies after first-trimester combined screening., Methods: In 259 singleton pregnancies undergoing invasive testing after first-trimester combined screening, a maternal blood sample was sent to the laboratory Natera for cfDNA testing using a single-nucleotide polymorphism-based methodology., Results: The cfDNA test provided a result in 249 (96.1%) pregnancies and, among these, identified as being at high risk 35 of 36 cases of trisomy 21, 13 of 13 with trisomy 18, five of five with trisomy 13 and three of four with sex chromosome aneuploidies. A policy of performing an invasive test in women with a combined risk of ≥1 in 10 or NT ≥4 mm and offering cfDNA testing to the remaining cases would detect all cases of trisomy 21, 18 or 13, 80% of sex aneuploidies and 62.5% of other defects and would avoid an invasive procedure in 82.4% of euploid fetuses., Conclusion: In high-risk pregnancies after combined screening, a policy of selecting a subgroup for invasive testing and another for cfDNA testing would substantially reduce the number of invasive procedures and retain the ability to diagnose most of the observed aneuploidies., (© 2016 John Wiley & Sons, Ltd.)

Objective: The aim of this retrospective study was to describe the sonographic appearance of the posterior brain anatomy in normal fetuses at 11 to 14 weeks of pregnancy and to determine the fetal outcome when one of the posterior brain anatomical space is not recognized., Methods: Two groups of patients were included in the study: a control group of consecutive 311 healthy fetuses with a normal sonogram and a study group of 21 fetuses with absence of one of the three posterior brain spaces. In each fetus, images of the mid-sagittal view of the fetal face and brain at 11 to 14 weeks of gestation were obtained., Results: In all fetuses with absence of one of the three posterior brain spaces, a severe anomaly, including open spina bifida, cephalocele, Dandy-Walker complex, and chromosomal aberrations, was associated., Conclusion: Our study indicates that the sonographic finding characterized by the absence of one of the three posterior brain spaces seems to facilitate not only the detection of open spina bifida, as previously reported, but also of other neural tube defects, such as cephalocele, and is an important risk factor for cystic posterior brain anomalies, and/or chromosomal abnormalities. Thus it seems a poor prognostic finding for major fetal abnormalities., (© 2015 John Wiley & Sons, Ltd.)

Objectives: To evaluate the feasibility of examining aberrant right subclavian artery (ARSA) at first and second trimester gestation, its prevalence and associations in an unselected population., Methods: Right subclavian artery (RSA) was prospectively evaluated in 6617 routine patients. When ARSA was detected, fetal echocardiography was offered and fetal karyotyping was discussed. If invasive testing was performed with normal karyotype, fluorescence in situ hybridization for 22q11.2 microdeletion and additionally, in case of nuchal translucency (NT) measurement above the 99(th) centile, oligo array-based comparative genomic hybridization, were offered. In all aneuploidies, NT and first trimester additional ultrasonographic (US) markers assessment (nasal bone, tricuspid valve, ductus venosus) were recorded., Results: RSA assessment was feasible in 85.3% and 98% of first and second trimester examinations, respectively (overall feasibility 94%). There were detected 89 ARSA (1.42% of the feasible cases), of which 66 in the first trimester. More than 20% were associated to other abnormalities: 10 aneuploidies; 2 microdeletions (15q11.2 and 22q11.2); in the euploid fetuses, 8 associated abnormalities were observed, 4 of which were cardiac defects. In the case of 22q11.2 microdeletion, ARSA was associated only with increased NT., Conclusion: Prenatal routine US assessment of the RSA is feasible by highly experienced operators in first trimester screening. There is an important association of ARSA detected in unselected population with fetal abnormalities, including aneuploidies, cardiac defects and genetic anomalies. In trisomy 21 fetuses, ARSA can be the only first trimester US marker or, when associated to increased NT, it can represent the only 'additional' marker., (© 2012 John Wiley & Sons, Ltd.)

Objective: The aim of this study was to evaluate the detection rate of congenital heart diseases (CHD) in a low-risk population by performing cardiac evaluation during the first-trimester screening for chromosomal abnormalities. In this context, the role of four-chamber view, tricuspid regurgitation and abnormal ductus venosus flow in the screening for cardiac anomalies in a low-risk population was also investigated., Method: The cardiac examination was performed by obstetricians with extensive experience in first- and second-trimester ultrasound (US). Follow-up US evaluations during the second and third trimesters were offered to all patients. In case of abnormal findings during routine assessment, fetal echocardiography was performed by a fetal cardiologist., Results: Among the 4445 fetuses included in the study, 42 CHD were detected (39 diagnosed prenatally and 3 postnatally). In 27 cases, the fetal cardiologist confirmed the type of CHD diagnosed at US screening. In 1 case, the diagnosis was slightly different in the second trimester, and in 3 of the 26 correctly diagnosed in the first-trimester cases, the CHD developed and progressed in severity. A significant association of major CHD and US first-trimester markers was observed., Conclusions: First-trimester assessment of the fetal heart is feasible in a low-risk population when performed by experienced obstetricians. However, although most types of CHD can be diagnosed early in pregnancy, some may become apparent later in gestation., (Copyright © 2011 John Wiley & Sons, Ltd.)

Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies. Corpus callosum agenesis and septo-optic dysplasia are disorders of prosencephalic midline development, and usually have less severe presentations but still, affected subjects may suffer from neurodevelopmental retardation, and/or endocrinologic and visual disorders. In this article we report an up-to-date of pathogenesis, prenatal sonographic findings, differential diagnosis and prognosis of the aforementioned anomalies.