Neural tube defects in the sample of genetic counselling

József Gábor Joó, A. Beke, C. Papp, E. Tóth-Pál, Ákos Csaba, Zsanett Szigeti, Z. Papp

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Objective: This study was conducted to evaluate the major demographic details, diagnostical and clinical features, as well as the risk of recurrence of cases with the major types of neural tube defects (NTD). We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years. Methods: The investigations were made into the sample of 743 NTD diagnosed between 1 January 1976 and 31 December 2002. A computerized database was used to sum up the available information about the individual cases; in addition to surveying the couples' major demographic details, we also had the opportunity to collect detailed information about the history, diagnostics (ultrasound) and outcome of the pregnancies as well as the results of the autopsies during the investigation. Results: In the 743 cases of NTD, maternal and paternal median ages turned out to be 23.7 years (±5.22 years) and 28.7 years (±5.81 years), respectively. The male: female ratio was 0.78. Comparable samples of anencephaly and spina bifida allowed for the conclusion that a positive genetic history was equally often found while a positive obstetrical history was almost twice as common in anencephaly. The sensitivity of the maternal serum-alpha fetoprotein (AFP) screening test is the highest in anencephaly and lowest in encephalocele. While the majority of cases of anencephaly were diagnosed before the 24th gestational week, examples of diagnosing spina bifida and encephalocele at a later time could also be found. Among the associated malformations other than those of the central nervous system special mentioning should be made of fetal pyelectasia, cleft palate as well as diaphragmatic herniation. No pathological karyotypes were found in association with encephalocele or spina bifida, but anencephaly was accompanied with trisomy 21 and trisomy 18 in one case each. Anencephaly was found to have the highest risk of recurrence in both nervous system malformations and malformations other than those of the nervous system. Sonography proved to be the most reliable method in cases of enecephalocele. Conclusion: The respective median values of maternal and paternal age show that aetas has no role in the occurrence of NTDs. NTDs are more common among girls. Positive genetic, obstetrical and medical findings are of great importance in the incidence of NTDs. Although reliable to only a limited extent, maternal serum-AFP tests are considered to be useful and necessary in screening NTDs, while sonography is the gold standard method in recognizing these frequent malformations. The knowledge of the eventual associated malformations is mainly important in certain cases of spina bifida, which may also yield a good post-natal prognosis. Our data obtained from the sample of 26 years also confirm that the periconceptional administration of folic acid reduces the incidence and risk of recurrence of NTDs.

Original languageEnglish
Pages (from-to)912-921
Number of pages10
JournalPrenatal Diagnosis
Volume27
Issue number10
DOIs
Publication statusPublished - Oct 2007

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Anencephaly
Neural Tube Defects
Genetic Counseling
Encephalocele
Ultrasonography
Paternal Age
Spinal Dysraphism
History
Mothers
alpha-Fetoproteins
Recurrence
Autopsy
Demography
Nervous System Malformations
Incidence
Maternal Age
Medical Genetics
Cleft Palate
Pregnancy Outcome
Down Syndrome

Keywords

  • Anencephaly
  • Associated disorders
  • Encephalocele
  • Fetopathology
  • History
  • Maternal serum-AFP investigation
  • Multiple pregnancy
  • Neural tube defect
  • Outcome of pregnancy
  • Risk of recurrence
  • Spina bifida
  • Ultrasound diagnostics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Neural tube defects in the sample of genetic counselling. / Joó, József Gábor; Beke, A.; Papp, C.; Tóth-Pál, E.; Csaba, Ákos; Szigeti, Zsanett; Papp, Z.

In: Prenatal Diagnosis, Vol. 27, No. 10, 10.2007, p. 912-921.

Research output: Contribution to journalArticle

Joó, József Gábor ; Beke, A. ; Papp, C. ; Tóth-Pál, E. ; Csaba, Ákos ; Szigeti, Zsanett ; Papp, Z. / Neural tube defects in the sample of genetic counselling. In: Prenatal Diagnosis. 2007 ; Vol. 27, No. 10. pp. 912-921.
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N2 - Objective: This study was conducted to evaluate the major demographic details, diagnostical and clinical features, as well as the risk of recurrence of cases with the major types of neural tube defects (NTD). We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years. Methods: The investigations were made into the sample of 743 NTD diagnosed between 1 January 1976 and 31 December 2002. A computerized database was used to sum up the available information about the individual cases; in addition to surveying the couples' major demographic details, we also had the opportunity to collect detailed information about the history, diagnostics (ultrasound) and outcome of the pregnancies as well as the results of the autopsies during the investigation. Results: In the 743 cases of NTD, maternal and paternal median ages turned out to be 23.7 years (±5.22 years) and 28.7 years (±5.81 years), respectively. The male: female ratio was 0.78. Comparable samples of anencephaly and spina bifida allowed for the conclusion that a positive genetic history was equally often found while a positive obstetrical history was almost twice as common in anencephaly. The sensitivity of the maternal serum-alpha fetoprotein (AFP) screening test is the highest in anencephaly and lowest in encephalocele. While the majority of cases of anencephaly were diagnosed before the 24th gestational week, examples of diagnosing spina bifida and encephalocele at a later time could also be found. Among the associated malformations other than those of the central nervous system special mentioning should be made of fetal pyelectasia, cleft palate as well as diaphragmatic herniation. No pathological karyotypes were found in association with encephalocele or spina bifida, but anencephaly was accompanied with trisomy 21 and trisomy 18 in one case each. Anencephaly was found to have the highest risk of recurrence in both nervous system malformations and malformations other than those of the nervous system. Sonography proved to be the most reliable method in cases of enecephalocele. Conclusion: The respective median values of maternal and paternal age show that aetas has no role in the occurrence of NTDs. NTDs are more common among girls. Positive genetic, obstetrical and medical findings are of great importance in the incidence of NTDs. Although reliable to only a limited extent, maternal serum-AFP tests are considered to be useful and necessary in screening NTDs, while sonography is the gold standard method in recognizing these frequent malformations. The knowledge of the eventual associated malformations is mainly important in certain cases of spina bifida, which may also yield a good post-natal prognosis. Our data obtained from the sample of 26 years also confirm that the periconceptional administration of folic acid reduces the incidence and risk of recurrence of NTDs.

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KW - Outcome of pregnancy

KW - Risk of recurrence

KW - Spina bifida

KW - Ultrasound diagnostics

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