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1.
Ultrasound Obstet Gynecol ; 59(2): 220-225, 2022 Feb.
Article in English | MEDLINE | ID: mdl-33998077

ABSTRACT

OBJECTIVE: To evaluate corpus callosum (CC) size by neurosonography (NSG) in fetuses with an isolated major congenital heart defect (CHD) and explore the association of CC size with the expected pattern of in-utero oxygen supply to the brain. METHODS: A total of 56 fetuses with postnatally confirmed isolated major CHD and 56 gestational-age-matched controls were included. Fetuses with CHD were stratified into two categories according to the main expected pattern of cerebral arterial oxygen supply: Class A, moderately to severely reduced oxygen supply (left outflow tract obstruction and transposition of the great arteries) and Class B, near normal or mildly impaired oxygenated blood supply to the brain (other CHD). Transvaginal NSG was performed at 32-36 weeks in all fetuses to evaluate CC length, CC total area and areas of CC subdivisions in the midsagittal plane. RESULTS: CHD fetuses had a significantly smaller CC area as compared to controls (7.91 ± 1.30 vs 9.01 ± 1.44 mm2 ; P < 0.001), which was more pronounced in the most posterior part of the CC. There was a significant linear trend for reduced CC total area across the three clinical groups, with CHD Class-A cases showing more prominent changes (controls, 9.01 ± 1.44 vs CHD Class B, 8.18 ± 1.21 vs CHD Class A, 7.53 ± 1.33 mm2 ; P < 0.05). CONCLUSIONS: Fetuses with major CHD had a smaller CC compared with controls, and the difference was more marked in the CHD subgroup with expected poorer brain oxygenation. Sonographic CC size could be a clinically feasible marker of abnormal white matter development in CHD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.


Subject(s)
Brain/blood supply , Corpus Callosum/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Ultrasonography, Prenatal/methods , Case-Control Studies , Cerebrovascular Circulation/physiology , Corpus Callosum/embryology , Female , Fetal Development/physiology , Fetus/diagnostic imaging , Heart Defects, Congenital/physiopathology , Humans , Oxygen Consumption/physiology , Pregnancy
2.
Ultrasound Obstet Gynecol ; 58(1): 83-91, 2021 07.
Article in English | MEDLINE | ID: mdl-32672395

ABSTRACT

OBJECTIVES: Fetal cardiac function can be evaluated using a variety of parameters. Among these, cardiac cycle time-related parameters, such as filling time fraction (FTF) and ejection time fraction (ETF), are promising but rarely studied. We aimed to report the feasibility and reproducibility of fetal FTF and ETF measurements using pulsed-wave Doppler, to provide reference ranges for fetal FTF and ETF, after evaluating their relationship with heart rate (HR), gestational age (GA) and estimated fetal weight (EFW), and to evaluate their potential clinical utility in selected fetal conditions. METHODS: This study included a low-risk prospective cohort of singleton pregnancies and a high-risk population of fetuses with severe twin-twin transfusion syndrome (TTTS), aortic stenosis (AoS) or aortic coarctation (CoA), from 18 to 41 weeks' gestation. Left ventricular (LV) and right ventricular inflow and outflow pulsed-wave Doppler signals were analyzed, using valve clicks as landmarks. FTF was calculated as: (filling time/cycle time) × 100. ETF was calculated as: (ejection time/cycle time) × 100. Intraclass correlation coefficients (ICC) were used to evaluate the intra- and interobserver reproducibility of FTF and ETF measurements in low-risk fetuses. The relationships of FTF and ETF with HR, GA and EFW were evaluated using multivariate regression analysis. Reference ranges for FTF and ETF were then constructed using the low-risk population. Z-scores of FTF and ETF in the high-risk fetuses were calculated and analyzed. RESULTS: In total, 602 low-risk singleton pregnancies and 54 high-risk fetuses (nine pairs of monochorionic twins with severe TTTS, 16 fetuses with AoS and 20 fetuses with CoA) were included. Adequate Doppler traces for FTF and ETF could be obtained in 95% of low-risk cases. Intraobserver reproducibility was good to excellent (ICC, 0.831-0.905) and interobserver reproducibility was good (ICC, 0.801-0.837) for measurements of all timing parameters analyzed. Multivariate analysis of FTF and ETF in relation to HR, GA and EFW in low-risk fetuses identified HR as the only variable predictive of FTF, while ETF was dependent on both HR and GA. FTF increased with decreasing HR in low-risk fetuses, while ETF showed the opposite behavior, decreasing with decreasing HR. Most recipient twins with severe TTTS showed reduced FTF and preserved ETF. AoS was associated with decreased FTF and increased ETF in the LV, with seemingly different patterns associated with univentricular vs biventricular postnatal outcome. The majority of fetuses with CoA had FTF and ETF within the normal range in both ventricles. CONCLUSIONS: Measurement of FTF and ETF using pulsed-wave Doppler is feasible and reproducible in the fetus. The presented reference ranges account for associations of FTF with HR and of ETF with HR and GA. These time fractions are potentially useful for clinical monitoring of cardiac function in severe TTTS, AoS and other fetal conditions overloading the heart. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Subject(s)
Fetal Heart/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/embryology , Ultrasonography, Doppler, Pulsed/statistics & numerical data , Ultrasonography, Prenatal/statistics & numerical data , Aortic Coarctation/diagnostic imaging , Aortic Coarctation/embryology , Aortic Valve Stenosis/diagnostic imaging , Aortic Valve Stenosis/embryology , Feasibility Studies , Female , Fetal Heart/embryology , Fetal Heart/physiopathology , Fetal Weight , Fetofetal Transfusion/diagnostic imaging , Fetofetal Transfusion/embryology , Gestational Age , Heart Rate , Heart Ventricles/diagnostic imaging , Heart Ventricles/embryology , Humans , Pregnancy , Pregnancy, Twin , Prospective Studies , Reference Values , Regression Analysis , Reproducibility of Results , Stroke Volume , Twins , Ultrasonography, Doppler, Pulsed/methods , Ultrasonography, Prenatal/methods
3.
Molecules ; 24(19)2019 Sep 30.
Article in English | MEDLINE | ID: mdl-31575030

ABSTRACT

The Pd-catalyzed intramolecular carbene C-H insertion of α-diazo-α-(methoxycarbonyl)acetamides to prepare oxindoles as well as ß-lactams was studied. In order to identify what factors influence the selectivity of the processes, we explored how the reactions are affected by the catalyst type, using two oxidation states of Pd and a variety of ligands. It was found that, in the synthesis of oxindoles, ((IMes)Pd(NQ))2 can be used as an alternative to Pd2(dba)3 to catalyze the carbene CArsp2-H insertion, although it was less versatile. On the other hand, it was demonstrated that the Csp3-H insertion leading to ß-lactams can be effectively promoted by both Pd(0) and Pd(II) catalysts, the latter being most efficient. Insight into the reaction mechanisms involved in these transformations was provided by DFT calculations.


Subject(s)
Acetamides/chemistry , Diazonium Compounds/chemistry , Palladium/chemistry , Catalysis , Models, Molecular , Molecular Structure , Oxindoles/metabolism , Palladium/metabolism , beta-Lactams/metabolism
4.
Chemistry ; 25(43): 10239-10245, 2019 Aug 01.
Article in English | MEDLINE | ID: mdl-31169338

ABSTRACT

A synthetic method to prepare tetrahydroquinoline-4-carboxylic acid esters has been developed through the transition-metal-catalyzed intramolecular aromatic C-H functionalization of α-diazoesters. Both [{Pd(IMes)(NQ)}2 ] (IMes=1,3-dimesitylimidazol-2-ylidene, NQ=1,4-naphthoquinone) and the first-generation Grubbs catalyst proved effective for this purpose. The ruthenium catalyst was found to be the most versatile, although in a few cases the palladium complex afforded better yields or selectivities. According to DFT calculations, Pd0 - and RuII -catalyzed sp2 -CAr -H functionalization proceeds through different reaction mechanisms. Thus, the Pd0 -catalyzed reaction involves a Pd-mediated 1,6-H migration from the sp2 -CAr -H bond to the carbene carbon atom, followed by a reductive elimination process. In contrast, electrophilic addition of the ruthenacarbene intermediate to the aromatic ring and subsequent 1,2-proton migration are operative in the Grubbs catalyst promoted reaction.

5.
Chem Commun (Camb) ; 55(8): 1160-1163, 2019 Jan 25.
Article in English | MEDLINE | ID: mdl-30632555

ABSTRACT

Grubbs catalysts are described as a useful alternative to promote intramolecular carbene C-H insertion from α-diazoesters. Moreover, no competition arises from the possible metathesis reactions on substrates bearing alkene and alkyne moieties. DFT calculations were also carried out to gain insight into the reaction mechanism involved in these transformations.

6.
IEEE Trans Neural Syst Rehabil Eng ; 26(10): 2062-2069, 2018 10.
Article in English | MEDLINE | ID: mdl-30334742

ABSTRACT

Quantitative assessment of movement impairment in Huntington's disease (HD) is essential to monitoring of disease progression. This paper aimed to develop and validate a novel low cost, objective automated system for the evaluation of upper limb movement impairment in HD in order to eliminate the inconsistency of the assessor and offer a more sensitive, continuous assessment scale. Patients with genetically confirmed HD and healthy controls were recruited to this observational study. Demographic data, including age (years), gender, and unified HD rating scale total motor score (UHDRS-TMS), were recorded. For the purposes of this paper, a modified upper limb motor impairment score (mULMS) was generated from the UHDRS-TMS. All participants completed a brief, standardized clinical assessment of upper limb dexterity while wearing a tri-axial accelerometer on each wrist and on the sternum. The captured acceleration data were used to develop an automatic classification system for discriminating between healthy and HD participants and to automatically generate a continuous movement impairment score (MIS) that reflected the degree of the movement impairment. Data from 48 healthy and 44 HD participants was used to validate the developed system, which achieved 98.78% accuracy in discriminating between healthy and HD participants. The Pearson correlation coefficient between the automatic MIS and the clinician rated mULMS was 0.77 with a p-value < 0.01. The approach presented in this paper demonstrates the possibility of an automated objective, consistent, and sensitive assessment of the HD movement impairment.


Subject(s)
Huntington Disease/physiopathology , Movement Disorders/physiopathology , Accelerometry , Adult , Aged , Automation , Disease Progression , Female , Healthy Volunteers , Humans , Huntington Disease/complications , Male , Middle Aged , Movement Disorders/etiology , Regression Analysis , Reproducibility of Results , Signal Processing, Computer-Assisted , Upper Extremity/physiopathology
7.
Ultrasound Obstet Gynecol ; 51(3): 349-356, 2018 Mar.
Article in English | MEDLINE | ID: mdl-28295792

ABSTRACT

OBJECTIVES: To define the pattern of fetal echocardiographic changes associated with isolated pulmonary valve stenosis (PS) and to correlate the echocardiographic findings with neonatal outcome and the need for postnatal pulmonary valvuloplasty within the first 12 months postpartum. METHODS: This was a prospective cohort study between January 2009 and October 2015 of 16 fetuses with isolated PS and 48 controls matched by gestational age at ultrasound examination (± 2 weeks) evaluated at the Fetal Cardiology Unit at BCNatal (Barcelona). Standard fetal ultrasound and comprehensive echocardiography, which included cardiovascular morphometric parameters, and systolic and diastolic functional and timing measurements, were performed in all cases. Baseline characteristics and perinatal outcome were retrieved from clinical records. Cases were followed up until 12 months of age, and admission to intensive care unit, days of hospitalization, need for prostaglandins and requirement for postnatal surgery were reviewed. Fetal PS cases were analyzed according to the need for postnatal pulmonary valvuloplasty. RESULTS: The study groups were similar in terms of baseline, fetal ultrasound and perinatal characteristics. Median gestational age at diagnosis of PS was 33.4 (range, 20.0-36.5) weeks. Most cases corresponded to mild or moderate PS; only three fetuses had reversed flow in the ductus arteriosus before delivery. Six (37.5%) newborns, including all three with reversed flow in the ductus arteriosus prenatally, required postnatal pulmonary valvuloplasty. Fetuses with PS presented with larger and more globular hearts, with increased myocardial wall thickness in the third trimester. Despite preserved right ventricular (RV) ejection fraction and systolic longitudinal motion, PS cases showed increased right cardiac output and signs of diastolic dysfunction, with higher ductus venosus pulsatility index (0.72 ± 0.32 vs 0.53 ± 0.16, P = 0.004) and tricuspid E/E' ratio (7.52 ± 3.07 vs 5.76 ± 1.79, P = 0.022). In addition, fetuses with PS displayed a compensatory increase in left ventricular (LV) radial and longitudinal motion, as shown by a higher ejection fraction (79.3 ± 8.23% vs 67.6 ± 11.3%, P = 0.003) and mitral annular-plane systolic excursion (5.94 ± 1.38 vs 5.0 ± 1.22 mm, P = 0.035). Finally, fetuses requiring postnatal pulmonary valvuloplasty showed a different pattern of echocardiographic findings from those not requiring valvuloplasty, with a significantly smaller RV and pulmonary valve diameter, reduced tricuspid annular-plane systolic excursion (5.08 ± 1.59 vs 8.07 ± 1.93 mm, P = 0.028), increased LV cardiac output (340 ± 16 vs 176 ± 44 mL/min/kg, P = 0.003) and more pronounced signs of LV diastolic dysfunction (mitral E' velocity, 5.78 ± 0.90 vs 8.16 ± 1.58 cm/s, P = 0.008). CONCLUSIONS: Fetuses with PS present with more hypertrophic, larger and more globular hearts in the third trimester of pregnancy, associated with a higher right cardiac output and impaired biventricular relaxation. In addition, signs of increased LV contraction were observed. Our data suggest that RV and LV functional parameters could be useful for predicting the need for postnatal pulmonary valvuloplasty. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Subject(s)
Echocardiography , Heart Ventricles/physiopathology , Pulmonary Valve Stenosis/physiopathology , Ultrasonography, Prenatal , Adult , Balloon Valvuloplasty , Female , Gestational Age , Heart Ventricles/diagnostic imaging , Heart Ventricles/embryology , Humans , Infant, Newborn , Predictive Value of Tests , Pregnancy , Prospective Studies , Pulmonary Valve Stenosis/diagnostic imaging , Pulmonary Valve Stenosis/embryology , Treatment Outcome , Vascular Remodeling , Ventricular Remodeling
8.
Angew Chem Int Ed Engl ; 55(22): 6467-70, 2016 05 23.
Article in English | MEDLINE | ID: mdl-27079473

ABSTRACT

A palladium-catalyzed carbene insertion into C(sp(3) )-H bonds leading to pyrrolidines was developed. The coupling reaction can be catalyzed by both Pd(0) and Pd(II) , is regioselective, and shows a broad functional group tolerance. This reaction is the first example of palladium-catalyzed C(sp(3) )-C(sp(3) ) bond assembly starting from diazocarbonyl compounds. DFT calculations revealed that this direct C(sp(3) )-H bond functionalization reaction involves an unprecedented concerted metalation-deprotonation step.

9.
Ultrasound Obstet Gynecol ; 47(3): 345-9, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26148097

ABSTRACT

OBJECTIVE: To evaluate the incidence of chorioamniotic membrane separation (CMS) after fetoscopy in monochorionic diamniotic (MCDA) twins and its impact on pregnancy outcome. METHODS: The study group comprised a consecutive series of 338 women with an MCDA pregnancy complicated by twin-twin transfusion syndrome (TTTS) or selective intrauterine growth restriction (sIUGR) treated with selective laser photocoagulation of communicating vessels (SLPCV) or cord occlusion (CO). Data obtained included cervical length, gestational age at procedure, type and duration of surgery and placental location. The incidence of CMS, the rates of miscarriage and preterm prelabor rupture of membranes (PPROM), gestational age at delivery and neonatal survival were recorded. RESULTS: Of the study population of MCDA pregnancies, 270 (79.9%) had TTTS and 68 (20.1%) had sIUGR. SLPCV was performed in 252 (74.6%) cases and CO in 86 (25.4%). Postoperative CMS was observed in 70 (20.7%) cases. Patients with CMS had higher rates of miscarriage (14.3% vs 7.1%; P = 0.049), PPROM before 32 weeks (43.3% vs 13.7%; P < 0.001) and preterm delivery before 32 weeks (53.3% vs 26.1%; P < 0.001) and a lower rate of neonatal survival of at least one twin (81.7% vs 93.6%; P = 0.003). Multivariate analysis showed that gestational age at surgery was the only independent predictor, with the highest proportion of CMS occurring in cases that underwent surgery before 18 weeks' gestation (odds ratio, 2.941 (95% CI, 1.640-5.275); P < 0.001). There was no influence of cervical length, placental location, duration of surgery or type of surgery on the risk of CMS. CONCLUSIONS: CMS complicated one-fifth of all MCDA pregnancies that underwent fetoscopy. It appeared to be more common in those who underwent surgery before 18 weeks' gestation and was associated with poorer outcomes. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.


Subject(s)
Fetal Membranes, Premature Rupture/epidemiology , Fetofetal Transfusion/epidemiology , Fetoscopy/adverse effects , Twins, Monozygotic , Female , Fetal Growth Retardation/epidemiology , Fetal Membranes, Premature Rupture/etiology , Fetofetal Transfusion/etiology , Fetofetal Transfusion/surgery , Gestational Age , Humans , Incidence , Infant, Newborn , Laser Coagulation/methods , Pregnancy , Pregnancy Complications/epidemiology , Pregnancy Outcome , Spain/epidemiology
10.
Ultrasound Obstet Gynecol ; 47(1): 65-73, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26053596

ABSTRACT

OBJECTIVES: Fetuses with congenital heart disease (CHD) show evidence of abnormal brain development before birth, which is thought to contribute to adverse neurodevelopment during childhood. Our aim was to evaluate whether brain development in late pregnancy can be predicted by fetal brain Doppler, head biometry and the clinical form of CHD at the time of diagnosis. METHODS: This was a prospective cohort study including 58 fetuses with CHD, diagnosed at 20-24 weeks' gestation, and 58 normal control fetuses. At the time of diagnosis, we recorded fetal head circumference (HC), biparietal diameter, middle cerebral artery pulsatility index (MCA-PI), cerebroplacental ratio (CPR) and brain perfusion by fractional moving blood volume. We classified cases into one of two clinical types defined by the expected levels (high or low) of placental (well-oxygenated) blood perfusion, according to the anatomical defect. All fetuses underwent subsequent 3T-magnetic resonance imaging (MRI) at 36-38 weeks' gestation. RESULTS: Abnormal prenatal brain development was defined by a composite score including any of the following findings on MRI: total brain volume < 10(th) centile, parietoccipital or cingulate fissure depth < 10(th) centile or abnormal metabolic profile in the frontal lobe. Logistic regression analysis demonstrated that MCA-PI (odds ratio (OR), 12.7; P = 0.01), CPR (OR, 8.7; P = 0.02) and HC (OR, 6.2; P = 0.02) were independent predictors of abnormal neurodevelopment; however, the clinical type of CHD was not. CONCLUSIONS: Fetal brain Doppler and head biometry at the time of CHD diagnosis are independent predictors of abnormal brain development at birth, and could be used in future algorithms to improve counseling and targeted interventions. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.


Subject(s)
Brain/abnormalities , Head/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Nervous System Malformations/diagnostic imaging , Adult , Brain/embryology , Brain/pathology , Cephalometry , Cohort Studies , Echocardiography , Echoencephalography , Female , Head/anatomy & histology , Heart Defects, Congenital/complications , Humans , Logistic Models , Magnetic Resonance Imaging , Middle Cerebral Artery/diagnostic imaging , Nervous System Malformations/complications , Nervous System Malformations/pathology , Pregnancy , Pregnancy Trimester, Second , Pregnancy Trimester, Third , Prospective Studies , Pulsatile Flow , Ultrasonography, Doppler, Transcranial , Ultrasonography, Prenatal
11.
Fetal Diagn Ther ; 38(1): 77-80, 2015.
Article in English | MEDLINE | ID: mdl-25613991

ABSTRACT

We report the successful use of fetoscopy to treat a case of severe low urinary tract obstruction (LUTO) secondary to a congenital megalourethra. A second trimester male fetus presented at 21 weeks of gestation with massive dilatation of the penile urethra. In addition, bilateral hydronephrosis, an enlarged and hypertrophic bladder, with progressive oligohydramnios were found, suggesting poor prognosis. Extensive counselling was performed and, after the approval from the local ethics committee and informed consent, patients accepted fetal therapy by fetoscopy. The procedure consisted in fetoscopic identification of the tip of the penis and confirmation of the complete absence of the urethral meatus. Thereafter, under combined endoscopic and ultrasound guidance a perforation of the tip of the penis was performed with contact diode laser, until an opening into the urethra was achieved. After the operation, resolution of the cystic penile dilation, with reduction of the penile size, and normalization of the amniotic fluid volume were observed. The pregnancy continued uneventfully and a normal male infant was born at term at the local hospital. The baby was developing normally with normal renal function at 6 months of age. Our report demonstrates that fetoscopic decompression of a distal urethra obstruction can achieve neonatal survival in the rare event of congenital megalourethra.


Subject(s)
Fetoscopy/methods , Penis/surgery , Urethra/surgery , Urethral Obstruction/surgery , Adult , Female , Humans , Male , Penis/abnormalities , Pregnancy , Treatment Outcome , Urethra/abnormalities , Urethral Obstruction/congenital
12.
Ultrasound Obstet Gynecol ; 45(2): 205-10, 2015 Feb.
Article in English | MEDLINE | ID: mdl-24706444

ABSTRACT

OBJECTIVE: To assess fetal cardiac function in first-trimester trisomy-21 fetuses as compared with fetuses with other aneuploidies, euploid fetuses with cardiac defects or isolated increased nuchal translucency (NT) and controls. METHODS: During a 2.5-year period, NT, ductus venosus (DV) blood flow, diastolic filling time, early filling time, tricuspid flow, tricuspid and mitral valve E/A velocity ratios, left ventricle shortening fraction, left myocardial performance index and fetal heart rate were assessed in fetuses with a crown-rump length between 45 and 84 mm undergoing chorionic villus sampling at our center. Cardiac parameters among study groups were compared with the use of 95% CIs. RESULTS: The study population comprised 28 fetuses with trisomy 21, 25 with other aneuploidies, 94 euploid fetuses with abnormal findings (27 with cardiac defects, 31 with other structural anomalies and 36 with isolated increased NT) and 271 controls. Trisomy-21 fetuses showed signs of diastolic dysfunction such as increased DV pulsatility index and E/A ratios together with a higher prevalence of tricuspid regurgitation. However, no differences were found in euploid fetuses with cardiac defects or isolated increased NT. CONCLUSIONS: No signs of cardiac dysfunction were observed in euploid fetuses with increased NT or cardiac defects, while in trisomy-21 fetuses signs of diastolic dysfunction could be potentially attributed to volume overload.


Subject(s)
Arrhythmias, Cardiac/physiopathology , Down Syndrome/physiopathology , Aneuploidy , Arrhythmias, Cardiac/diagnostic imaging , Case-Control Studies , Crown-Rump Length , Down Syndrome/diagnostic imaging , Echocardiography , Female , Heart Rate, Fetal , Humans , Nuchal Translucency Measurement , Pregnancy , Pregnancy Trimester, First , Prospective Studies , Risk Factors
14.
Ultrasound Obstet Gynecol ; 44(2): 182-7, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24687311

ABSTRACT

OBJECTIVES: To evaluate the associations between congenital heart disease (CHD) and head biometry and cerebrovascular blood flow dynamics at the time of diagnosis of CHD in the second trimester of pregnancy. METHODS: This was a study of 95 consecutive fetuses diagnosed with CHD. At the time of diagnosis, fetal biometry was performed and brain perfusion was assessed by middle cerebral artery pulsatility index (MCA-PI), cerebroplacental ratio (CPR) and fractional moving blood volume (FMBV). The results were compared with those of 95 normal fetuses matched for gestational age. RESULTS: Median gestational age at diagnosis was 22 + 3 (range, 20 + 0 to 23 + 5) weeks. Fetuses with CHD showed significantly lower MCA-PI and CPR Z-scores (-0.23 vs 0.34 and -0.37 vs 0.30, respectively; both P < 0.001) and higher FMBV Z-scores (2.35 vs 0.15; P < 0.001). FMBV > 95(th) percentile was observed in 81.1% of cases as compared with 10.5% in controls (P < 0.001). Moreover, cases showed significantly smaller biparietal diameter (BPD) and head circumference (HC) Z-scores (-1.61 vs -0.43 and -0.89 vs 0.09, respectively; both P < 0.001), with a higher proportion of BPD and HC measurements below the 5(th) percentile compared with controls (51.6% vs 13.7% and 26.3% vs 4.2%, respectively; both P < 0.001). These findings were more pronounced in those cases with types of CHD associated with compromised oxygenated blood delivery to the brain, such as left outflow tract obstruction and transposition of the great arteries. CONCLUSIONS: A high proportion of fetuses with CHD have a smaller head and increased brain perfusion already in the second trimester, suggesting an early onset of the mechanisms leading to poorer neurodevelopment later in life.


Subject(s)
Brain/blood supply , Brain/embryology , Fetal Diseases/physiopathology , Head/embryology , Heart Defects, Congenital/physiopathology , Adult , Biometry/methods , Blood Flow Velocity , Case-Control Studies , Cerebrovascular Circulation/physiology , Echocardiography, Doppler, Pulsed , Female , Fetal Diseases/diagnostic imaging , Head/anatomy & histology , Head/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Hemodynamics , Humans , Middle Cerebral Artery/diagnostic imaging , Middle Cerebral Artery/embryology , Pregnancy , Pregnancy Trimester, Second
15.
Ultrasound Obstet Gynecol ; 43(1): 65-71, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23733584

ABSTRACT

OBJECTIVES: To evaluate, in a cohort of 248 fetuses seen at a tertiary referral center, the frequency of isolated ventricular septal defects (VSD) among all congenital heart defects (CHD), the association with chromosomal and postnatal anomalies and the rate of spontaneous closure. METHODS: This was a 6-year study on 10,800 women referred for fetal echocardiography, with 995 confirmed cases of CHD. The prevalence and characteristics of VSDs were analyzed, including follow-up until 1 year of age. Multivariate binary logistic regression analysis was performed to test the independent contribution of the ratio of the diameter of the VSD to that of the aorta (VSD/aorta ratio) (< 0.5 or ≥ 0.5) and location of VSD (perimembranous or muscular) in the prediction of spontaneous closure before the age of 1 year. RESULTS: Two hundred and forty-eight VSDs (24.9% of all CHDs) were diagnosed, of which 216 (87.1%) were muscular and 32 (12.9%) perimembranous. Median gestational age at diagnosis was 30.4 (range, 17-41) weeks and mean size 2.6 ± 0.77 mm. Clinically relevant chromosomal anomalies were found in one (3.1%) perimembranous VSD compared with none in 216 muscular defects (P = 0.12). Postnatal malformations were diagnosed in eight of the 211 cases (3.8%) evaluated at 12 months postpartum. Spontaneous closure occurred prenatally in 13 fetuses (5.2%) and postnatally in 151 of the 198 infants (76.3%) who had an open VSD at birth. Closure was predicted by the VSD/aorta ratio (odds ratio (OR) 0.445 (95% CI, 0.216-0.914); P < 0.03) and location (OR 0.385 (95% CI, 0.160-0.926); P < 0.03). CONCLUSIONS: In our fetal cardiology unit, isolated muscular VSD is today the most prevalent CHD. In contrast to the findings of postnatal studies, muscular VSDs were more common than perimembranous VSDs. Perimembranous VSDs were associated with a higher risk of chromosomal anomalies than were muscular VSDs, which had a similar risk to those of normal pregnancies. Spontaneous closure of the VSD was frequent and occurred in most cases postnatally.


Subject(s)
Chromosome Aberrations/embryology , Echocardiography, Doppler, Color , Genetic Counseling , Heart Septal Defects, Ventricular/diagnostic imaging , Karyotyping , Echocardiography, Doppler, Color/methods , Female , Follow-Up Studies , Gestational Age , Heart Septal Defects, Ventricular/embryology , Humans , Infant , Infant, Newborn , Male , Pregnancy , Pregnancy Outcome , Prevalence , Remission, Spontaneous , Ultrasonography, Prenatal
16.
Ultrasound Obstet Gynecol ; 43(5): 520-4, 2014 May.
Article in English | MEDLINE | ID: mdl-24006271

ABSTRACT

OBJECTIVE: To investigate whether increased nuchal translucency (NT) in fetuses with a crown-rump length (CRL) below 45 mm needs to be re-evaluated at a later stage, or whether the early NT measurement can be used effectively as an aneuploidy marker. METHODS: This was a prospective cohort study including all singleton fetuses with a CRL between 28 and 44 mm, scanned in our center during 2002-2012. The CRL, NT, fetal karyotype (when available) and pregnancy outcome were recorded. NT reference ranges were constructed using the Lambda-Mu-Sigma (LMS) method in non-referred pregnancies after exclusion of chromosomal anomalies. The 95(th) percentile was used to calculate detection rates for chromosomally abnormal fetuses. RESULTS: NT was successfully measured in 643 of 672 fetuses with a CRL of 28-44 mm. Subsequent cytogenetic analysis revealed 11 cases of trisomy 21, 14 cases of trisomy 13 or 18, three cases of monosomy X, three sex trisomies, three triploidies and 12 balanced anomalies. NT was above the 95(th) percentile in 64% of the fetuses with trisomy 21, in 71% with trisomy 13 or 18 and in all three cases of monosomy X. CONCLUSION: NT appears to be useful as a marker for the early detection of fetal trisomies at 9-10 weeks' gestation (28-44 mm CRL).


Subject(s)
Aneuploidy , Crown-Rump Length , Nuchal Translucency Measurement , Biomarkers , Cohort Studies , Female , Gestational Age , Humans , Male , Maternal Age , Nuchal Translucency Measurement/methods , Practice Guidelines as Topic , Predictive Value of Tests , Pregnancy , Pregnancy Trimester, First , Prospective Studies , Regional Blood Flow
17.
Fetal Diagn Ther ; 34(2): 77-84, 2013.
Article in English | MEDLINE | ID: mdl-23886794

ABSTRACT

OBJECTIVE: Congenital high airway obstruction syndrome (CHAOS) normally has a dire prognosis due to laryngeal atresia and association with other anomalies. However, rare cases with an isolated tracheal membrane have been described. We assessed systematically the larynx and vocal cords in fetuses with CHAOS, with the goal of identifying such cases and attempting fetoscopic deobstruction. METHODS: Between 2008 and 2012, 7 cases of CHAOS were referred to our institution. The ultrasonographic aspect of the larynx and trachea was assessed. We report the ultrasound findings, necropsy findings of 6 cases and perinatal outcome in 1 case undergoing therapy. RESULTS: In 6 cases, laryngeal atresia was presumed by ultrasound and confirmed by necropsy after termination of pregnancy. In 1 case, normal appearance of the vocal cords led to suspicion of a possible isolated tracheal web completely occluding the trachea. Fetoscopy confirmed the finding, thus the membrane was perforated. Lung size normalized and hydrops resolved. A normal fetus was delivered at term, requiring no respiratory support. At 9 months of age, the infant showed a normal laryngoscopy and was developing well. CONCLUSIONS: Systematic ultrasound assessment of the vocal cords can be performed in fetuses with CHAOS. We report the first case of long-term intact survival after fetoscopic airway deobstruction.


Subject(s)
Airway Obstruction/surgery , Vocal Cords/diagnostic imaging , Adult , Airway Obstruction/congenital , Airway Obstruction/diagnostic imaging , Diagnosis, Differential , Female , Fetoscopy , Humans , Male , Pregnancy , Prenatal Diagnosis , Prognosis , Syndrome , Ultrasonography
18.
Ultrasound Obstet Gynecol ; 42(1): 51-7, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23152003

ABSTRACT

OBJECTIVE: To assess the best method of combining fetal nuchal translucency (NT) and ductus venosus (DV) blood flow measurements in the detection of major cardiac defects in chromosomally normal fetuses during the first-trimester scan. METHODS: During an 8-year period NT and DV blood flow were routinely assessed at 11-14 weeks' gestation. Only chromosomally normal singleton pregnancies were included in the study. When a cardiac defect was suspected, or when increased fetal NT and/or absent or reversed (AR) A-wave in the DV was observed, early fetal echocardiography was offered. Data on routine second- and third-trimester scans, neonatal follow-up or postmortem examination were obtained from hospital records. The detection and false-positive rates for all major cardiac defects were calculated for several screening strategies, including: NT or DV pulsatility index for veins (DV-PIV) above a fixed normal centile; AR A-wave; risk based on NT and DV-PIV or A-wave velocity above a fixed normal centile; and combinations of these strategies. RESULTS: The study population included 37 chromosomally normal fetuses with a major cardiac defect and 12 799 unaffected pregnancies. Fetal NT above the 95(th) or the 99(th) centile and AR A-wave was observed in 40, 27 and 39% of the fetuses with major cardiac defects, respectively. A 47% detection rate with a 2.7% false-positive rate was obtained when AR A-wave or NT above the 99(th) centile was used as the selection criterion. CONCLUSIONS: Half of major fetal cardiac defects could be detected in the first trimester if NT and DV Doppler are used to select 2.7% of the general pregnant population for extended fetal echocardiography.


Subject(s)
Blood Flow Velocity , Fetal Heart/diagnostic imaging , Heart Defects, Congenital/diagnosis , Nuchal Translucency Measurement/methods , Female , Fetal Heart/abnormalities , Fetal Heart/physiopathology , Gestational Age , Heart Defects, Congenital/embryology , Heart Defects, Congenital/genetics , Heart Defects, Congenital/physiopathology , Humans , Predictive Value of Tests , Pregnancy , Pregnancy Trimester, First , Regional Blood Flow , Reproducibility of Results , Ultrasonography, Prenatal , Veins/diagnostic imaging
19.
Fetal Diagn Ther ; 33(1): 69-74, 2013.
Article in English | MEDLINE | ID: mdl-22814202

ABSTRACT

This is the first report of fetoscopy to successfully treat a case of bilobar bronchial atresia presenting in the form of a massive right lung tumor causing severe thoracic compression with mediastinal shift, pulmonary hypoplasia and eventually fetal hydrops. The presence of an echolucent tubular structure in the pulmonary hilum was identified as the intrapulmonary continuation of the interrupted main bronchus, and led to the diagnosis of main bronchial atresia. After extensive discussion and counseling, a fetoscopic operation was designed and indicated. The procedure consisted of a fetal tracheoscopy and access to the right main bronchus, which was perforated with a diode laser until a communication with the dead end of the intrapulmonary main bronchus was achieved. After the operation a significant reduction in size was observed, hydrops and mediastinal shift disappeared and O/E LHR increased to 85%. The fetus was born at term and lobectomy of two dysplastic pulmonary lobes was performed. The infant is developing well at 14 months of age. This report demonstrates that fetoscopic airway decompression can achieve fetal survival in the rare event of main bronchus atresia.


Subject(s)
Fetal Diseases/surgery , Lung Neoplasms/surgery , Bronchoscopy , Decompression, Surgical , Female , Fetoscopy , Humans , Hydrops Fetalis/etiology , Hydrops Fetalis/surgery , Infant, Newborn , Lung Neoplasms/complications , Pregnancy , Young Adult
20.
Fetal Diagn Ther ; 32(1-2): 79-86, 2012.
Article in English | MEDLINE | ID: mdl-22759646

ABSTRACT

OBJECTIVE: To establish normal reference intervals of the fetal left modified myocardial performance index (MPI) with the use of stringent criteria for delimitation of the time periods. STUDY DESIGN: A cohort of consecutive singleton fetuses was created including at least 20 fetuses for each completed week of gestation between 11 and 41 weeks. The isovolumetric contraction time (ICT), isovolumetric relaxation time (IRT), and ejection time (ET) were calculated using the clicks of the mitral and aortic valves as landmarks, and the MPI was calculated as follows: (ICT + IRT)/ET. Normal reference ranges for the MPI and its individual components were constructed by means of regression analysis of the mean and standard deviation against gestational age (GA). RESULTS: A total of 730 fetuses were included. After a natural logarithmic transformation, a third degree cubic polynomial model (log(e) mean MPI = 0.0477 × GA - 0.002565 × GA² + 0.000043 × GA³ -1.22, with GA measured in weeks) was selected to fit our data. There was a progressive increase in the mean MPI from 11 weeks (mean, 0.39; 95th centile, 0.51) to 41 weeks (mean, 0.55; 95th centile, 0.78) of gestation. While the mean ICT and IRT values increased with GA from 25 to 32 ms and from 39 to 51 ms, respectively, the ET showed an initial increase until 30 weeks and a progressive decrease thereafter. CONCLUSION: Normative references of left modified MPI from 11 to 41 weeks of gestation are provided, which could be useful in the assessment of cardiac function in fetuses.


Subject(s)
Fetal Development , Heart Ventricles/diagnostic imaging , Heart Ventricles/embryology , Myocardial Contraction , Ventricular Function , Adolescent , Adult , Cohort Studies , Cross-Sectional Studies , Echocardiography, Doppler , Female , Gestational Age , Humans , Middle Aged , Models, Cardiovascular , Pregnancy , Reference Values , Spain , Time Factors , Ultrasonography, Prenatal , Young Adult
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