In prenatal cardiology center 3 cases of anomalous pulmonary venous return with pulmonary venous stenosis were diagnosed on the basis of continues Doppler blood flow (V max >100 cm/sec). In each of 3 cases left heart defect was diagnosed at 29th, 35th and 36th week of gestation. In each case newborn died on the 1st or 2nd day of life before qualification to cardiac surgery. At present, anomalous pulmonary venous return with pulmonary venous stenosis and complex heart defect in fetus seems to be lethal cardiac defect.
Twin gestations are higher risk pregnancies for fetal mortality especially when associated with genetic disorder and congenital heart defect which significantly increases the complication risk in the co-twin including fetal loss, premature delivery, and organ damage. In this report, we present a case of dichorionic twins in 41 years old woman. A trisomy 21 was diagnosed in one twin associated with uncharacteristic congenital heart defect resulting in single twin demise in mid-gestation. The effect of regular care and proper management was delivery of healthy surviving twin.
In the Polish National Registry for Fetal Cardiac Pathology d-TGA ranked in 5th place on the list of most common heart defects after HLHS, AVSD, VSD and TOF and accounted for 3,5% of all registered cardiac malformations. The following increase in the detection of d-TGA in Poland was observed: 8 fetuses in 2006, 20 fetuses in 2008, 30 fetuses in 2012 (p<0,05, McNemara test).
The aim of this study was to analyze selected fetal and neonatal data in a group of 55 patients with d-TGA in the years 1997-2012 in the single reference prenatal cardiology center, type C (> 120 prenatal CHD per year). Mean gestational age was 28,2+/-4,7 weeks, which decreased from 36st week (in 2007) to 30th week (in 2012) (p=0,006; ANOVA & post hoc NIR test).
Demise in utero, termination of pregnancy, demise before cardiac surgery (4%) and postoperative deaths (2%) were taken into account (p >0,05 test χ2). Rashkind procedure during 48h after delivery was performed in 36% of neonates.
Conclusion: In the past 12 years we have observed a tendency to better detection of prenatal d-TGA (p <0,05) and to identify d-TGA at earlier gestational age (p=0,006). “Hidden mortality” (before surgery) was higher than postoperative mortality in the neonatal period, however statistically the difference was not significant (p>0,05).
At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap.
Material & Method:
Amniotic fluid samples or chorionic villi from:
137 fetuses with abnormalities in two or more organ systems
96 fetuses with nuchal translucency above 3.5 mm (99th centile),
85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies.
In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found.
The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.
This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.
The Polish National Registry for Fetal Cardiac Pathology, which has been in existence since 2004, is one of the unique organisational achievements of the Polish prenatal cardiology. Now that the calendar year 2012 is over, we are setting about working on the summary of our work to chart its new directions.
Materials and methods:
Standard data reports from the year 2012 have been analysed and compared with data published in the Prenatal Cardiology quarterly in 2011 and other data collected between 2004 and 2010.
538 new records were entered in the Registry in 2012. Consequently, the total number of examinations registered between 2004 and 2012 amounts to 5297 records. 72% (n = 388) of all the patients entered in the Registry were examined by C-type centres, i.e. Warsaw (186), Łódź (150) and Ruda Śląska (79). The commonest heart defects included hypoplastic left heart syndrome (n = 81), tetralogy of Fallot (n = 51) and AVSD (n = 49): atrial & ventricular components (n = 49). The data collected between 2004 and 2010, in 2011 and 2012 were compared. In 2011 544 foetuses with cardiologic problems were registered, while in 2012 there were 538 of them. In 2011, there were 24 centres in the Registry. Last year, there were 27 of them. As in the previous years, HLHS was the most frequently registered foetus heart defect in 2012. In 2012 the second one was TOF. In 2012, LSF and PBU were the two major prenatal cardiology centres in Poland and registered over 100 foetuses every year. In 2012, the number of doctors diagnosing over five cases of foetal heart defects a year reached 10%. The majority of the doctors (89%) diagnosed such cases rarely (< 5 cases a year). In 2011, the percentage of the pregnant women who decided to terminate the pregnancy was larger than between 2004 and 2010, but smaller than in 2012; it was < 7%.
The data included in the 2012 in The Polish National Registry for Fetal Cardiac Pathology is similar to the data collected in the previous years. The classification of foetal heart defects is imperfect and interpreted in various ways by particular centres. This needs to be changed in the future; the way the classification is interpreted must be made uniform.