RESUMEN

Recent literature has established a strong foundation examining the associations between socioeconomic/demographic characteristics and outcomes for congenital heart disease. These associations are found beginning in fetal life and influence rates of prenatal detection, access to timely and appropriate delivery room and neonatal interventions, and surgical and other early childhood outcomes. This review takes a broad look at the existing literature and identifies gaps in the current body of research, particularly as it pertains to disparities in the prenatal detection of congenital heart disease within the United States. It also proposes further research and interventions to address these health disparities.

RESUMEN

BACKGROUND: The aim of this study was to review our institution's experience with truncus arteriosus from prenatal diagnosis to clinical outcome. METHODS: and results: We conducted a single-centre retrospective cohort study for the years 2005-2020. Truncus arteriosus antenatal echocardiographic diagnostic accuracy within our institution was 92.3%. After antenatal diagnosis, five parents (31%) decided to terminate the pregnancy. After inclusion from referring hospitals, 16 patients were offered surgery and were available for follow-up. Right ventricle-to-pulmonary artery continuity was preferably established without the use of a valve (direct connection), which was possible in 14 patients (88%). There was no early or late mortality. Reinterventions were performed in half of the patients at latest follow-up (median follow-up of 5.4 years). At a median age of 5.5 years, 13 out of 14 patients were still without right ventricle-to-pulmonary artery valve, which was well tolerated without signs of right heart failure. The right ventricle demonstrated preserved systolic function as expressed by tricuspid annular plane systolic excursion z-score (-1.4 ± 1.7) and fractional area change (44 ± 12%). The dimensions and function of the left ventricle were normal at latest follow-up (ejection fraction 64.4 ± 6.2%, fractional shortening 34.3 ± 4.3%). CONCLUSIONS: This study demonstrates good prenatal diagnostic accuracy of truncus arteriosus. There was no mortality and favourable clinical outcomes at mid-term follow-up, with little interventions on the right ventricle-to-pulmonary artery connection and no right ventricle deterioration. This supports the notion that current perspectives of patients with truncus arteriosus are good, in contrast to the poor historic outcome series. This insight can be used in counselling and surgical decision-making.

RESUMEN

OBJECTIVE: To characterize patterns in the geospatial distribution of pre- and postnatally diagnosed congenital heart disease (CHD) across 6 surgical centers. STUDY DESIGN: A retrospective, multicenter case series from the Fetal Heart Society identified patients at 6 centers from 2012 through 2016 with prenatally (PrND) or postnatally (PoND) diagnosed hypoplastic left heart syndrome (HLHS) or d-transposition of the great arteries (TGA). Geospatial analysis for clustering was done by the average nearest neighbor (ANN) tool or optimized hot spot tool, depending on spatial unit and data type. Both point location and county case rate per 10 000 live births were assessed for geographic clustering or dispersion. RESULTS: Of the 453 CHD cases, 26% were PoND (n = 117), and 74% were PrND (n = 336). PrND cases, in all but one center, displayed significant geographic clustering by the ANN. Conversely, PoND cases tended toward geographic dispersion. Dispersion of PoND HLHS occurred in 2 centers (ANN = 1.59, P < .001; and 1.47, P = .016), and PoND TGA occurred in 2 centers (ANN = 1.22, P < .05; and ANN = 1.73, P < .001). Hot spot analysis of all CHD cases (TGA and HLHS combined) revealed clustering near areas of high population density and the tertiary surgical center. Hot spot analysis of county-level case rate, accounting for population density, found variable clustering patterns. CONCLUSION: Geographic dispersion among postnatally detected CHD highlights the need for a wider reach of prenatal cardiac diagnosis tailored to the specific needs of a community. Geospatial analysis can support centers in improving the equitable delivery of prenatal care.

Asunto(s)

RESUMEN

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings. CONCLUSION: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.

Asunto(s)

RESUMEN

OBJECTIVE: To investigate the overall and type-specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. METHODS: This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases-10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. RESULTS: A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8-78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type-specific DRs for the entire period were 56.4% (95% CI, 45.0-67.6%) for unilateral CL; 76.6% (95% CI, 71.7-82.9%) for unilateral CLP; 70.5% (95% CI, 52.1-87.6%) for bilateral CL; 82.3% (95% CI, 70.6-93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6-5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations. CONCLUSIONS: The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Asunto(s)

RESUMEN

Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition. Awareness of presentation and prompt diagnostic workup are crucial for early identification and proper management. In this case report, we discuss a case of Primrose syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient exhibited classic phenotypic features, including a high hairline, high-arched palate, and brachycephaly at birth, as well as an absent corpus callosum observed on postnatal MRI and genotypic findings of a pathogenic variant in ZBTB20.

RESUMEN

PURPOSE: To analyze the learning curves of ultrasound novices in fetal echocardiography during structured simulation-based ultrasound training (SIM-UT) including a virtual, randomly moving fetus. METHODS: 11 medical students with minimal (< 10 h) prior obstetric ultrasound experience underwent 12 h of structured fetal echocardiography SIM-UT in individual hands-on sessions during a 6-week training program. Their learning progress was assessed with standardized tests after 2, 4, and 6 weeks of SIM-UT. Participants were asked to obtain 11 fetal echocardiography standard planes (in accordance with ISUOG and AHA guidelines) as quickly as possible. All tests were carried out under real life, examination-like conditions on a healthy, randomly moving fetus. Subsequently, we analyzed the rate of correctly obtained images and the total time to completion (TTC). As reference groups, 10 Ob/Gyn physicians (median of 750 previously performed Ob/Gyn scans) and 10 fetal echocardiography experts (median of 15,000 previously performed Ob/Gyn scans) were examined with the same standardized tests. RESULTS: The students showed a consistent and steady improvement of their ultrasound performance during the training program. After 2 weeks, they were able to obtain > 95% of the standard planes correctly. After 6 weeks, they were significantly faster than the physician group (p < 0.001) and no longer significantly slower than the expert group (p = 0.944). CONCLUSION: SIM-UT is highly effective to learn fetal echocardiography. Regarding the acquisition of the AHA/ISUOG fetal echocardiography standard planes, the students were able to reach the same skill level as the expert group within 6 weeks.

RESUMEN

INTRODUCTION: To investigate the performance of the second-trimester ultrasound scan regarding ultrasound-detectable congenital malformations in a Danish region. The study sample was population-based, with 6 months of postnatal follow-up. Hospital records and autopsy reports were reviewed in each case to validate the prenatal ultrasound diagnosis. MATERIAL AND METHODS: This population-based cohort study included all fetuses (n = 19.367) alive at the second-trimester scan in four hospitals in a Danish region. The final diagnosis of the malformations was based on hospital records during the 6-month postnatal follow-up. In case of termination or stillbirth, the result from the autopsy report was used to validate the prenatal ultrasound diagnosis. RESULTS: The detection rate of congenital malformations in the prenatal screening program was 69%, where 18% was detected on the first-trimester scan and 51% on the second-trimester scan. Another 8% was detected in the third trimester. Specificity was 99.9%. The positive predictive value of the screening program was 94.5%, and the negative predictive value was 99.5%. The overall prevalence of malformations was 16.8 per 1000 fetuses, most frequently in the heart and the urinary tract. CONCLUSIONS: This study shows that the national screening program for congenital malformations can detect many severe malformations and is an effective screening test for malformations.

Asunto(s)

RESUMEN

INTRODUCTION: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program. MATERIALS AND METHODS: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation. RESULTS: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p < 0.05). Median gestational age at detection was 19 + 6 (interquartile range [IQR] 15 + 4 - 20 + 5) in group 1 versus 20 + 3 (IQR: 20 + 0 - 21 + 1) in group 2 (p < 0.001). In group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rate in group 1 and group 2 were 48% and 27%, respectively (p < 0.01). Median gestational age at termination did not differ between the two groups. CONCLUSION: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.

Asunto(s)

RESUMEN

OBJECTIVE: To investigate the national prevalence and prenatal detection rate (DR) of major congenital heart disease (mCHD) in twin pregnancies without twin-to-twin transfusion syndrome (TTTS)-associated CHD in a Danish population following a standardized prenatal screening program. METHODS: This was a national registry-based study of data collected prospectively over a 10-year period. In Denmark, all women with a twin pregnancy are offered standardized screening and surveillance programs in addition to first- and second-trimester screening for aneuploidies and malformation, respectively: monochorionic (MC) twins every 2 weeks from gestational week 15 and dichorionic (DC) twins every 4 weeks from week 18. The data were retrieved from the Danish Fetal Medicine Database and included all twin pregnancies from 2009-2018, in which at least one fetus had a pre- and/or postnatal mCHD diagnosis. mCHD was defined as CHD requiring surgery within the first year of life, excluding ventricular septal defects. All pregnancy data were pre- and postnatally validated in the local patient files at the four tertiary centers covering the entire country. RESULTS: A total of 60 cases from 59 twin pregnancies were included. The prevalence of mCHD was 4.6 (95% CI, 3.5-6.0) per 1000 twin pregnancies (1.9 (95% CI, 1.3-2.5) per 1000 live births). The prevalences for DC and MC were 3.6 (95% CI, 2.6-5.0) and 9.2 (95% CI, 5.8-13.7) per 1000 twin pregnancies, respectively. The national prenatal DR of mCHD in twin pregnancies for the entire period was 68.3%. The highest DRs were in cases with univentricular hearts (100%) and the lowest with aortopulmonary window, total anomalous pulmonary venous return, Ebstein's anomaly, aortic valve stenosis and coarctation of the aorta (0-25%). Mothers of children with prenatally undetected mCHD had a significantly higher body mass index (BMI) compared to mothers of children with a prenatally detected mCHD (median, 27 kg/m2 and 23 kg/m2 , respectively; P = 0.02). CONCLUSIONS: The prevalence of mCHD in twins was 4.6 per 1000 pregnancies and was higher in MC than DC pregnancies. The prenatal DR of mCHD in twin pregnancies was 68.3%. Maternal BMI was higher in cases of prenatally undetected mCHD. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Asunto(s)

RESUMEN

Fetal echocardiogram aids in prenatal identification of neonates at high risk for congenital heart defects (CHD). Prenatal detection rates for CHD have increased with improved ultrasound technology, the use of the early fetal echocardiography, and standardization of the performance of the fetal echocardiogram. Accurate prenatal detection of CHD, particularly complex CHD, is an important contributor to improved survival rates for patients with CHD. Early detection allows for families to choose whether or not to continue with pregnancy, referral to pediatric cardiology specialists for patient education, and delivery planning. Better psychosocial supports are needed for families with CHD.

Asunto(s)

RESUMEN

Non-invasive prenatal testing (NIPT) is based on the detection and characterization of circulating cell-free fetal DNA (ccffDNA) in maternal plasma and aims to identify genetic abnormalities. At present, commercial NIPT kits can detect only aneuploidies, small deletions and insertions and some paternally inherited single-gene point mutations causing genetic diseases, but not maternally inherited ones. In this work, we have developed two NIPT assays, based on the innovative and sensitive droplet digital PCR (ddPCR) technology, to identify the two most common ß thalassemia mutations in the Mediterranean area (ß+IVSI-110 and ß039), maternally and/or paternally inherited, by fetal genotyping. The assays were optimized in terms of amplification efficiency and hybridization specificity, using mixtures of two genomic DNAs with different genotypes and percentages to simulate fetal and maternal circulating cell-free DNA (ccfDNA) at various gestational weeks. The two ddPCR assays were then applied to determine the fetal genotype from 52 maternal plasma samples at different gestational ages. The diagnostic outcomes were confirmed for all the samples by DNA sequencing. In the case of mutations inherited from the mother or from both parents, a precise dosage of normal and mutated alleles was required to determine the fetal genotype. In particular, we identified two diagnostic ranges for allelic ratio values statistically distinct and not overlapping, allowing correct fetal genotype determinations for almost all the analyzed samples. In conclusion, we have developed a simple and sensitive diagnostic tool, based on ddPCR, for the NIPT of ß+IVSI-110 and ß039 mutations paternally and, for the first time, maternally inherited, a tool, which may be applied to other single point mutations causing monogenic diseases.

Asunto(s)

RESUMEN

It is estimated that 2-4% of live births will have a birth defect (BD). The availability of biomarkers for the prenatal detection of BDs will facilitate early risk assessment, prompt medical intervention and ameliorating disease severity. miRNA expression levels are often found to be altered in many diseases. There is, thus, a growing interest in determining whether miRNAs, particularly extracellular miRNAs, can predict, diagnose, or monitor BDs. These miRNAs, typically encapsulated in exosomes, are released by cells (including those of the fetus and placenta) into the extracellular milieu, such as blood, urine, saliva and cerebrospinal fluid, thereby enabling interaction with target cells. Exosomal miRNAs are stable, protected from degradation, and retain functionality. The observation that placental and fetal miRNAs can be detected in maternal serum, provides a strong rationale for adopting miRNAs as noninvasive prenatal biomarkers for BDs. In this mini-review, we examine the current state of research involving the use of miRNAs as prognostic and diagnostic biomarkers for BD.

Asunto(s)

RESUMEN

OBJECTIVE: We investigated the relationship between prenatal detection of significant congenital heart disease and elective termination of pregnancy over time in Nevada. METHODS: We identified those prenatally or post-natally diagnosed with significant congenital cardiovascular malformations in Nevada with birth dates or estimated delivery dates between July 2012 and June 2021. RESULTS: We identified 1246. Of 1246, 69 underwent fetal demise, 42 had elective termination, and 1135 were live-born. Of the 1135 live-born, 1090 had prenatal care, of which 718 (66%) overall had a prenatal diagnosis of significant congenital heart disease. However, prenatal detection statistically significantly increased over time from 45 to 82%, p = .00001. Termination of pregnancy averaged 10% of those identified within the legal timeframe, and the rate did not statistically significantly increase with increasing prenatal detection rates, p = .56. Of the 42 undergoing elective termination, 23 (55%) had syndromes or comorbidities vs. 280 (25%) of the 1135 live-births, p = .0003. CONCLUSIONS: In Nevada, despite a statistically significant increase in prenatal detection of significant congenital heart disease over time, termination of pregnancy rates did not increase. Nevertheless, those undergoing elective termination were more likely to have associated syndromes or comorbidities.

Asunto(s)

RESUMEN

OBJECTIVE: We reviewed our center's prenatal detection and surgical experience with high-risk, 2-ventricle patients, with complex congenital heart disease that underwent stage-1 hybrid palliation. METHODS: We retrospectively identified those born between March 2008 and March 2021 with 2-ventricle hearts, complex congenital cardiovascular malformations, and ductal-dependent systemic circulation that underwent stage-1 hybrid palliation consisting of surgical bilateral pulmonary artery banding and interventional catheterization placed ductus arteriosus stents. RESULTS: We identified 30 patients. Of the 30, 19 (63%) were male. For the 30, median gestational age was 35 weeks (29-39 weeks), and median birth weight was 2.2 kg (0.6-4.5 kg). Of the 30, 1 was transferred from an adjacent state, and 29 were born in Nevada. Of the 29 born in Nevada, overall statewide prenatal detection was 18 of 29 (62%); however, for 2008 to 2011 the prenatal detection rate was 3 of 10 (30%) and 15 of 19 (79%) for 2012 to 2021, P = .03. For the last 5 years, prenatal detection for Nevada-born patients was 8 of 8 (100%). Two full-term newborns, without a prenatal diagnosis, presented postnatally in extremis. For the 30 patients, there were 0 stage-1 hybrid palliation mortalities, 1 subsequent repair mortality, and 3 late nonsurgical deaths. CONCLUSIONS: Stage-1 hybrid palliation may result in excellent surgical outcomes for high-risk, 2-ventricle patients. Additionally, high rates of population-wide prenatal detection are possible for high-risk congenital heart disease, allowing prenatal planning and possibly reducing postnatal extremis presentations.

Asunto(s)

RESUMEN

OBJECTIVE: We reviewed our center's experience with common arterial trunk. METHODS: We included those with common arterial trunk in Nevada with estimated delivery dates or birth dates between June 2006 and May 2021. We excluded patients with functionally univentricular hearts. RESULTS: We identified a total of 39: 32 prenatally and 7 postnatally. Of the 32 prenatally detected, 2 had elective termination, 2 had fetal demise, and 28 were live-born. Of the 7 postnatally diagnosed, 6 had prenatal care without a fetal echocardiogram, and 1 had no prenatal care. Overall, live-born prenatal detection was 28/34 (82%). Prenatal detection for 2006-2009 was 2/6 (33%) and for 2010-2021 was 26/28 (93%) p = .049. Of the 35 live-born infants, 1 died preoperatively, and 34 underwent neonatal surgery. Of the 34, 8 had palliation (birth weight 1.9±0.7 kg, range 0.8-2.6 kg), and 26 had a primary repair (birth weight 3.0±0.3 kg, range 2.6-4.0 kg) p = .0004. For all 34 neonatal surgical procedures, there were 2 (5.9%) deaths; however, there were no subsequent surgical or interventional catheterization mortalities. CONCLUSIONS: In Nevada, current state-wide, general population prenatal detection of the common arterial trunk was more than 90%. By employing a combination of neonatal palliation and primary repair, surgical mortality was less than 6% in a cohort that included those with birth weights less than 2.5 kg, truncal valve surgery, and interrupted aortic arches.

Asunto(s)

RESUMEN

Late diagnosis of critical congenital heart disease (CCHD) is associated with higher levels of morbidity and mortality in neonates. Nearly all states have passed laws mandating universal pulse oximetry screening (POxS) of newborns to improve early detection rates of CCHD. We performed a retrospective chart review of all transthoracic echocardiograms (TTEs) interpreted by our institution on patients between 0 and 30 days of life in the years 2010 (prior to POxS) and 2015 (after POxS). Between 2010 and 2015, the number of neonatal TTEs interpreted by our institution decreased by 18.2%. In 2015, there were 46 neonates diagnosed with CCHD with a 78% prenatal detection rate. There was only one case of a true-positive POxS. Our study demonstrated that the initiation of POxS coincided with a significant decrease in neonatal TTEs, suggesting universal POxS may impart reassurance to primary providers leading to a decrease in TTE utilization.

Asunto(s)

RESUMEN

Prenatal detection of an isolated congenital coronary artery fistula (ICCAF) requires an examination of the affected fetal hemodynamic situation by the fistula. Early pediatric cardiological presentation is needed, since prenatal changes may have relevant postpartal consequences.

RESUMEN

Introducción: Las hemoglobinopatías se consideran errores monogénicos hereditarios y están caracterizados por defectos en la molécula de hemoglobina. En Cuba, la detección prenatal de hemoglobinopatías se realiza a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda: asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar la frecuencia de hemoglobinopatías en mujeres embarazadas residentes en Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar la frecuencia de hemoglobinopatías en 1 342 917 mujeres embarazadas captadas en el periodo 2009-2019. El método diagnóstico de la pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación se realizó por electroforesis de hemoglobina en gel de agarosa a pH ácido; ambos métodos mediante la tecnología HYDRASYS. Resultados: La frecuencia global de embarazadas con hemoglobinopatías fue de 3,5 por ciento. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El subprograma alcanzó 99,24 por ciento de cobertura en el país. Conclusión: La alta frecuencia de hemoglobinopatías en Cuba justifica la importancia de continuar el subprograma de detección de portadores para prevenir la aparición de las formas graves de la enfermedad(AU)

Introduction: Hemoglobinopathies are hereditary monogenic errors characterized by defects in the hemoglobin molecule. In Cuba, prenatal detection of hemoglobinopathies is performed by hemoglobin electrophoresis to identify high-risk couples. The program offers genetic counseling, prenatal molecular diagnosis and selective pregnancy termination in case of affected fetuses at the request of couples. Objective: Determine the frequency of hemoglobinopathies among pregnant women living in Cuba. Methods: A descriptive cross-sectional retrospective study was conducted to determine the frequency of hemoglobinopathies in 1 342 917 pregnant women recruited in the period 2009-2019. Screening was based on the diagnostic method of hemoglobin electrophoresis in alkaline pH agarose gels. Confirmation was performed with hemoglobin electrophoresis in acid pH agarose gel. Both methods used HYDRASYS technology. Results: Overall frequency of pregnant women with hemoglobinopathies was 3.5 percent. Hemoglobinopathies were detected in 47 465 women: 38 698 with variant S heterozygote, 8 706 with variants of hemoglobin C y 158 with other variants. 44 283 husbands with hemoglobinopathies and 3 099 high-risk couples were detected, and 2 689 prenatal molecular diagnostic tests were conducted. A total 522 affected fetuses were confirmed, and 382 couples requested pregnancy termination. The subprogram achieved 99.24 percent coverage in the country. Conclusion: The high frequency of hemoglobinopathies in Cuba justifies the importance of continuing the carrier detection subprogram to prevent the emergence of severe forms of the disease(AU)

Asunto(s)

RESUMEN

OBJECTIVES: We investigated the potential for improvement in prenatal detection of congenital heart disease (CHD) by routinely performing detailed fetal echocardiography (FE) in all pregnant women. METHODS: Following routine obstetric sonography, 1445 unselected pregnant women were prospectively subjected to FE at gestational ages between 16 and 24 weeks, or at first visit, if they presented later. Maternal or fetal factors, conventionally known to be associated with risk of CHD, were noted. The prevalence and detection rates of cardiac abnormalities were determined, and confirmation of findings by postnatal follow-up was done to ensure accuracy of FE. Prevalence of CHD was compared in pregnancies with or without conventional risk factors. RESULTS: The overall prevalence of CHD was 8.3 per 1000; only 2 CHD cases belonged to the high maternal risk group, while 10 cases were observed without maternal risk factors. Cardiac malformations were suspected in 14 fetuses during obstetric scan; but, only 5 of them had CHD, remaining 9 had structurally normal hearts. 50% of CHD cases occurred in pregnancies not associate with any (fetal or maternal) risk factor. The sensitivity, and specificity for prenatal CHD detection were 91.7% and 100% respectively. CONCLUSIONS: Our study indicates that a substantial proportion of CHD cases occur in women not having high risk of giving birth to children with CHD. FE is a highly sensitive and specific test with strong predictive values. We recommend that FE should be done in every pregnancy.

Asunto(s)