The Value of Fetal Heart Evaluation in Fetuses with Rare Congenital Lymphangiomas: A Cohort Study from a Single Tertiary Center across Two Decades (Years 1999-2020).

Lymphangiomas are uncommon, benign (from a histopathology viewpoint) malformations of the lymphatic system with thin-walled vessels; however, these tumors may be dangerous for fetal or neonatal life. They are observed in 1:6000 newborns at birth and in 1:750 spontaneous abortions. We aimed to investigate the role of fetal echocardiography in the prognosis of lymphangioma. Selected data of 19,836 pregnant women studied between 1999 and 2020 were retrospectively analyzed. In total, 32 cases of lymphangioma meeting the following criteria were further analyzed: (1) ultrasound availability from the 1st trimester of pregnancy and (2) nuchal translucency ≤ 2.5 mm. Echocardiographic findings, karyotype, size, and location of the possible lesion were juxtaposed with the clinical follow-up. The statistical analysis was performed using Statistica 13.1 software (StatSoft, Tulsa, OK, USA). Lymphangioma in the analyzed material coexisted with abnormalities in fetal echo in 78% (n = 25) of cases, especially: heart defect in 50% (n = 16) and with normal heart structure with functional changes in 28% (n = 9). Karyotype was available in 50% of the analyzed cases (n = 16). Normal cytogenetic results were observed in 62.5% (n = 10) of cases. In the remaining cases, the following were observed: Turner Syndrome: 25% (n = 4) and Down Syndrome 12.5% (n = 2). The rate of alive newborns was significantly higher among fetuses with isolated lymphangioma in comparison to those with lymphangioma associated with abnormal ECHO examination: 38.46% (n = 5) vs. 15.38% (n = 2; p = 0.037). Abnormal ECHO exam was a poor prognostic sign for fetuses with lymphangioma; therefore, we think it is important to refer these cases for detailed echocardiography in tertiary centers. Moreover, it should be highlighted that in all lymphangioma cases there was an indication to perform the karyotype assessment, as there was a high risk of aneuploidy.

Detection screening and seasonality evaluation of hypoplastic left heart syndrome in the polish national registry for fetal cardiac anomalies from the years 2004 to 2016.

OBJECTIVES: To evaluate the incidence of hypoplastic left heart syndrome (HLHS) and the efficiency of the screening program using data from the Polish National Registry for Fetal Cardiac Anomalies. To investigate whether HLHS incident rates in Poland are seasonally variable. METHODS: Data on 791 cases of HLHS from the Registry collected between 2004 and 2016 was analyzed. RESULTS: The median gestational age for the 734 cases of HLHS detected was 23 weeks. Comparing the age at time of HLHS detection between 2004 and 2016, a decrease from 26 to 20.8 weeks was observed. We noted a rapid increase in HLHS incidence during the initial years of the Registry data, the annual percentage change during that period was 22.0% and this trend lasted until 2010. In the following years, the Registry became representative of the general population which has an estimated incidence of HLHS of 20.93 cases per 100 000 live births. We observed no clear seasonal patterns of HLHS incidence in our population. CONCLUSION: The Registry reached a plateau state in terms of diagnosing new cases of HLHS. No evidence of seasonality has been noted. The average gestational age of patients identified as having HLHS decreased significantly during the study period.

The significance of a prenatal diagnosis of right aortic arch.

OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in two referral centers. RESULTS: Right aortic arch was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13.1%, only extracardiac malformations. The most common noncardiac abnormalities were thymus hypoplasia/aplasia (7/17), of which six had deletion 22q.11.2. In another three fetuses, trisomy 21 was present. One intrauterine fetal death occurred at 41 weeks of pregnancy, and two fetuses died after birth. In six of 18 infants with known follow-up, symptoms of dysphagia were reported, of which four infants underwent surgical intervention. In 12 infants, an isolated RAA was clinically silent. CONCLUSIONS: The diagnosis of RAA is an indication for a detailed examination of cardiac and noncardiac structures, including the thymus. It is advisable to consider genetic testing, together with the assessment of deletion 22q11.2, especially in the case of accompanying defects. The prognosis depends on underlying cardiac and extracardiac anomalies and possibly coexisting genetic defects. Isolated anomalies are asymptomatic. © 2017 John Wiley & Sons, Ltd.