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open access

Vol 94, No 5 (2023)
Research paper
Published online: 2023-04-17
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Prenatal echocardiography in Trisomy 18 — the key to diagnosis and further management in the second half of pregnancy

Aleksandra Nowakowska12, Oskar Sylwestrzak13, Iwona Strzelecka13, Przemyslaw Oszukowski24, Maria Responek-Liberska13, Agnieszka Zalinska124
DOI: 10.5603/GP.a2023.0035
·
Pubmed: 37070966
·
Ginekol Pol 2023;94(5):366-373.
Affiliations
  1. Department for Prenatal Cardiology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
  2. Department of Obstetrics and Perinatology, Chair of Obstetrics, Gynecology and Oncological Gynecology, Medical University of Lodz, Poland
  3. Department of Diagnosis and Prevention Fetal Malformations, Medical University of Lodz, Poland
  4. Obstetric Ward, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland

open access

Vol 94, No 5 (2023)
ORIGINAL PAPERS Obstetrics
Published online: 2023-04-17

Abstract

Objectives: Trisomy 18 is an autosomal chromosomal disorder, which is associated with numerous ranges of congenital anomalies. Purpose of this largest study in Poland was to analyze diagnosis and follow-up of fetuses with the prenatal diagnosis of Trisomy 18 in our tertiary center.
Material and methods: The study was conducted in a tertiary center for fetal cardiology. The inclusion criteria comprised fetuses with karyotype of Trisomy 18. Data on number of delivery, number of pregnancy, cardiac and extracardiac diseases, type and date of childbirth, sex, birth date, Apgar score, survival time and autopsy were analyzed.
Results: There were 41 fetuses with diagnosis confirmed by amniocentesis: 34 were females, 7 males. CHD was detected prenatally in 73% cases at mean gestational age of 26 weeks. The most common CHD was AV-canal (13 cases, 43%) and VSD (13 cases, 43%). In 1999–2010 the average time to detect a heart defect was 29 weeks, in 2011–2021 it was 23 weeks (p < 0.01, U-Mann-Whitney). IUGR was diagnosed in the 3rd trimester in 29 cases (70%), polyhydramnion in 21 cases (51%).
Conclusions: Congenital heart defects in female fetuses with intrauterine growth restriction in 3rd trimester with polyhydramnios and in subsequent pregnancy, regardless of maternal age, were typical prenatal findings for Trisomy 18. Heart defects with incomplete septum such as AVC or VSD (which nowadays can be detected in the 1st half of the pregnancy) were the most common anomaly in Edwards Syndrome. These heart defects did not require intervention in the early neonatal period.

Abstract

Objectives: Trisomy 18 is an autosomal chromosomal disorder, which is associated with numerous ranges of congenital anomalies. Purpose of this largest study in Poland was to analyze diagnosis and follow-up of fetuses with the prenatal diagnosis of Trisomy 18 in our tertiary center.
Material and methods: The study was conducted in a tertiary center for fetal cardiology. The inclusion criteria comprised fetuses with karyotype of Trisomy 18. Data on number of delivery, number of pregnancy, cardiac and extracardiac diseases, type and date of childbirth, sex, birth date, Apgar score, survival time and autopsy were analyzed.
Results: There were 41 fetuses with diagnosis confirmed by amniocentesis: 34 were females, 7 males. CHD was detected prenatally in 73% cases at mean gestational age of 26 weeks. The most common CHD was AV-canal (13 cases, 43%) and VSD (13 cases, 43%). In 1999–2010 the average time to detect a heart defect was 29 weeks, in 2011–2021 it was 23 weeks (p < 0.01, U-Mann-Whitney). IUGR was diagnosed in the 3rd trimester in 29 cases (70%), polyhydramnion in 21 cases (51%).
Conclusions: Congenital heart defects in female fetuses with intrauterine growth restriction in 3rd trimester with polyhydramnios and in subsequent pregnancy, regardless of maternal age, were typical prenatal findings for Trisomy 18. Heart defects with incomplete septum such as AVC or VSD (which nowadays can be detected in the 1st half of the pregnancy) were the most common anomaly in Edwards Syndrome. These heart defects did not require intervention in the early neonatal period.

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Keywords

Trisomy 18; Edwards Syndrome; congenital heart defects; chromosomal disorder

About this article
Title

Prenatal echocardiography in Trisomy 18 — the key to diagnosis and further management in the second half of pregnancy

Journal

Ginekologia Polska

Issue

Vol 94, No 5 (2023)

Article type

Research paper

Pages

366-373

Published online

2023-04-17

Page views

1759

Article views/downloads

440

DOI

10.5603/GP.a2023.0035

Pubmed

37070966

Bibliographic record

Ginekol Pol 2023;94(5):366-373.

Keywords

Trisomy 18
Edwards Syndrome
congenital heart defects
chromosomal disorder

Authors

Aleksandra Nowakowska
Oskar Sylwestrzak
Iwona Strzelecka
Przemyslaw Oszukowski
Maria Responek-Liberska
Agnieszka Zalinska

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