Early fetal echocardiography: a new challenge in prenatal diagnosis

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

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Prenatal diagnosis of tuberous sclerosis: The use of fetal echocardiography

Prenatal Diagnosis ◽

10.1002/pd.1970070606 ◽

1987 ◽

Vol 7 (6) ◽

pp. 407-411 ◽

Cited By ~ 16

Author(s):

Lawrence D. Platt ◽

Greggory R. Devore ◽

Janet Horenstein ◽

Zdena Pavlova ◽

Bruce Kovacs ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Tuberous Sclerosis ◽

Fetal Echocardiography

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Psychological effects of prenatal diagnosis: The example of fetal echocardiography

Current Psychology ◽

10.1007/bf02686635 ◽

1987 ◽

Vol 6 (1) ◽

pp. 57-68 ◽

Cited By ~ 6

Author(s):

T. Barton ◽

R. Harris ◽

J. Weinman ◽

L. Allan ◽

D. Crawford

Keyword(s):

Prenatal Diagnosis ◽

Fetal Echocardiography ◽

Psychological Effects

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Prenatal Diagnosis of Ostium secundum Atrial Septal Defect by M-Mode Fetal Echocardiography

Gynecologic and Obstetric Investigation ◽

10.1159/000009910 ◽

1998 ◽

Vol 45 (1) ◽

pp. 68-70 ◽

Cited By ~ 4

Author(s):

Mustafa Salih ◽

L. Cem Demirel ◽

Gülay Kurtay

Keyword(s):

Prenatal Diagnosis ◽

Atrial Septal Defect ◽

Septal Defect ◽

Fetal Echocardiography ◽

Secundum Atrial Septal Defect

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A Case of Prenatal Diagnosis of Congenital Total AV Block on VSD and PDA with Ultrasound

JOURNAL OBGIN EMAS ◽

10.25077/aoj.5.2.244-253.2021 ◽

2021 ◽

Vol 5 (2) ◽

pp. 244-253

Author(s):

Prof. Dr. dr. Hj. Yusrawati SpOG(K)-KFM ◽

Nanda Tri Wahdini ◽

Hauda El Rasyid ◽

Muhammad Riendra

Keyword(s):

Prenatal Diagnosis ◽

Left Ventricular Function ◽

Ventricular Function ◽

Fetal Echocardiography ◽

Pregnancy Termination ◽

Good Condition ◽

Left Ventricular ◽

X Rays ◽

Av Block ◽

Fetal Bradycardia

Objective : To report the diagnosis and management of congenital total AV block on VSD and PDA in pregnancy.Method : A case reportCase : A 37-year-old multiparous woman G4P3A0H2 24- 25 weeks of preterm pregnancy with fetal bradycardia, VSD, PDA with ultrasonography and CTG results was FHR 70 bpm. At 37- 38 weeks of pregnancy, termination of pregnancy was performed by cesarean delivery with preparation for complication of fetal AV block. A male baby was born with weight 2600 gram and APGAR score of 8/9. Immediate echocardiography result was situs solitus, VSD PM LR shunt, PDA LR shunt, good left ventricular function, left aortic arch and EF 74%. ECG result was sinus bradycardia, total AV block with junctional escape rhythm. Sternotomy and PPM implantation was performed by cardiothoracic surgeon three hours after the baby was born. Post PPM implantation, ECG results was HR 165 bpm and chest X- rays interpretation was cardiomegaly with plethora. Mother and baby came home in good condition on the 6th day of treatment. On the next baby’s control at 4.5 months obtained a weight of 5.4 kg with the echocardiography results was solitus, VSD PM LàR shunt, VSD muscular multiple 3 pieces LàR shunt, PDA LàR shunt, good right and left ventricular function, and left arch. The child got captopril 2x1.5 mg and planned for a 6-month repeat echocardiography.Conclusion : Congenital of total AV block on VSD and PDA is confirmed by prenatal diagnosis and preparation for comprehensive multidisciplinary management.Keywords: congenital total AV block, fetal bradycardia, fetal echocardiography, PPM, ultrasound

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Assessment of the accuracy in prenatal diagnosis of congenital malformations. Analysis of 101 questionnaires filled in by parents of neonates hospitalized in the Department of Congenital Malformations Polish Mother's Memorial Research Institute

Prenatal Cardiology ◽

10.1515/pcard-2015-0003 ◽

2015 ◽

Vol 5 (4) ◽

pp. 19-25

Author(s):

Iwona Strzelecka ◽

Maciej Słodki ◽

Andrzej Zieliński ◽

Iwona Maroszyńska ◽

Maria Respondek-Liberska

Keyword(s):

Prenatal Diagnosis ◽

Biochemical Markers ◽

Congenital Malformations ◽

Digestive System ◽

Fetal Echocardiography ◽

Perinatal Care ◽

Pediatric Intensive Care ◽

Skeletal System ◽

System 2 ◽

High Level

Abstract Introduction: Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry Materials and methods: Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations. Results: 101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations. Conclusions: 1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation. 2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations. 3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities. 4. Biochemical exams had a positive result in only one case of Down Syndrome.

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