Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland

Johanna Hautala, Emma Karstunen, Annukka Ritvanen, Risto Rintala, Ilkka P. Mattila, Juha Rasanen, Pertti K. Suominen, Tiina Ojala

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Introduction: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. Material and methods: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. Results: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects. Conclusions: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.

Original languageEnglish (US)
Pages (from-to)204-211
Number of pages8
JournalActa Obstetricia et Gynecologica Scandinavica
Volume97
Issue number2
DOIs
StatePublished - Feb 1 2018
Externally publishedYes

Fingerprint

Hypoplastic Left Heart Syndrome
Finland
Live Birth
Heart Rate
Stillbirth
Congenital Heart Defects
Congenital Diaphragmatic Hernias
antineoplaston A10
Population
Registries
Cohort Studies
Survival Rate
Parturition
Pregnancy
Survival

Keywords

  • Congenital diaphragmatic hernia
  • congenital heart anomaly
  • congenital heart defect
  • extra-cardiac anomaly
  • hypoplastic left heart syndrome
  • prenatal diagnosis
  • survival

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations : 10-year national cohort from Finland. / Hautala, Johanna; Karstunen, Emma; Ritvanen, Annukka; Rintala, Risto; Mattila, Ilkka P.; Rasanen, Juha; Suominen, Pertti K.; Ojala, Tiina.

In: Acta Obstetricia et Gynecologica Scandinavica, Vol. 97, No. 2, 01.02.2018, p. 204-211.

Research output: Contribution to journalArticle

Hautala, Johanna ; Karstunen, Emma ; Ritvanen, Annukka ; Rintala, Risto ; Mattila, Ilkka P. ; Rasanen, Juha ; Suominen, Pertti K. ; Ojala, Tiina. / Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations : 10-year national cohort from Finland. In: Acta Obstetricia et Gynecologica Scandinavica. 2018 ; Vol. 97, No. 2. pp. 204-211.
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abstract = "Introduction: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. Material and methods: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. Results: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26{\%}) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41{\%}. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68{\%} of cases. The survival rate for CDH with major heart defects was 11 and 38{\%} with minor heart defects. Conclusions: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41{\%}. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.",
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author = "Johanna Hautala and Emma Karstunen and Annukka Ritvanen and Risto Rintala and Mattila, {Ilkka P.} and Juha Rasanen and Suominen, {Pertti K.} and Tiina Ojala",
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T1 - Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations

T2 - 10-year national cohort from Finland

AU - Hautala, Johanna

AU - Karstunen, Emma

AU - Ritvanen, Annukka

AU - Rintala, Risto

AU - Mattila, Ilkka P.

AU - Rasanen, Juha

AU - Suominen, Pertti K.

AU - Ojala, Tiina

PY - 2018/2/1

Y1 - 2018/2/1

N2 - Introduction: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. Material and methods: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. Results: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects. Conclusions: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.

AB - Introduction: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. Material and methods: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. Results: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects. Conclusions: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.

KW - Congenital diaphragmatic hernia

KW - congenital heart anomaly

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KW - extra-cardiac anomaly

KW - hypoplastic left heart syndrome

KW - prenatal diagnosis

KW - survival

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