What do we know about isolated VSD in fetuses?

  • Dr Anna Kaplanska, Perinatology and Perinatal Cardiology Unit, 2nd Department of Obstetrics and Gynaecology, Medical University of Warsaw, Poland
  • Dr Pawel Wlasienko, Perinatology and Perinatal Cardiology Unit, 2nd Department of Obstetrics and Gynaecology, Medical University of Warsaw, Poland
  • Dr Joanna Kuran, Perinatology and Perinatal Cardiology Unit, 2nd Department of Obstetrics and Gynaecology, Medical University of Warsaw, Poland
  • Dr Joanna Dangel, Perinatology and Perinatal Cardiology Unit, 2nd Department of Obstetrics and Gynaecology, Medical University of Warsaw, Poland

    • Objective
    To evaluate prevalence of types of isolated VSDs in fetuses in relation to chromosomal aberrations and extracardiac malformations and assess perinatal follow-up.
    Methods
    Single-centre retrospective analysis of computer database of reference perinatal cardiology unit between 1994-2008. Out of 883 fetuses with congenital heart defects, 169(19%) with isolated VSD were found. We divided pts into diagnosed before and after 2002 due to different organization of perinatal centre.
    Results
    VSD was diagnosed in 29+/-6 weeks of gestation before 2002, and in 26+/-6 after 2002. Types of VSD: perimembranous-58(34%), muscular-53(31%), inlet-47(28%), multiVSD-5(3%), malalignment-3(2%), unknown-3(2%). Karyotype was performed in 87 pts; in 34 was normal, trisomy 18(T18)-27 fetuses, trisomy 21(T21)-15, trisomy13(T13)-8, other aberrations-4. 22(81%) fetuses with T18 had inlet VSD, 11(73%) fetuses with T21-perimembranous VSD. Among muscular VSDs there were no chromosomal abnormalities. Most common extracardiac malformations were: CNS(19), facial(12), GI(11). Extracardiac malformations were mostly in T18, T13 and also with normal karyotype. Follow-up: table. Neonatal deaths were caused by lethal conditions, not VSD as such. In those cases perinatal palliative care was provided.

    Conclusions
    1. Prognosis of fetal isolated VSD is different to postnatal due to chromosomal aberrations and extracardiac malformations.
    2. Fetal large inlet and perimembranous VSD are strong markers of chromosomal abnormalities. Such diagnosis is an indication for karyotyping.
    3. Fetal muscular isolated VSD with otherwise normal US is a benign lesion. Other investigations are unnecessary.

    VSD type TOP I/U death Born alive Neoatal death and perinatal palliative care Unknown
    Perimembranous (n=58) 5 3 35 9 15
    Muscular (n=53) 1 0 42 2 10
    Inlet (n=47) 6 11 27 19 3
    Multi (n=5) 0 0 5 3 0
    Malalignment (n=3) 0 0 3 0 0
    Unknown (n=3) 2 1 0 0 0
    Total (n=169) 14 15 112 33 28