title: Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis.
abstract: OBJECTIVE
  The yield of chromosomal microarray analysis (CMA) for prenatally detected congenital heart defects (CHD) is 6.6% to 19.2%. We evaluated the yield of CMA in cases of prenatally detected CHD in regard to specific clinical characteristics.
  
  
  METHODS
  Data from 192 cases of CHD including type, clinical and familial background, workup performed during the pregnancy, and pregnancy outcomes were collected.
  
  
  RESULTS
  Fetal echocardiography was performed in all cases; 61.4% of CHD were suspected by ultrasound. There was a positive family history (FH) in 15.7%. Abnormal nuchal translucency or umbilical cord anomalies were detected in 1.7% and 5.9%, respectively, and 55.1% were isolated cases. In 11 of 96 cases in which genetic testing was performed, karyotype and CMA were abnormal (11.5%). The detection rate of CMA (performed in 72 cases) was 9.7%. The yield of CMA was similar in simple cases, isolated cases, and cases with a positive FH. CMA was abnormal in 7.3% of ventricular septal defect cases.
  
  
  CONCLUSIONS
  Most cases of prenatally detected CHD had no additional extra-cardiac, sonographic findings suggesting increased risk for CHD. The yield of CMA testing was significant in all clinical scenarios including simple heart malformations, isolated cases, and cases with a positive FH. © 2016 John Wiley & Sons, Ltd.
authors: Department of OBGYN, Meir Medical Center, Kfar Saba, Israel.|Genetics Institute, Meir Medical Center, Kfar Saba, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors: Rivka
authors: R
authors: Sukenik-Halevy
authors: Ben Gurion University of the Negev, Beer Sheva, Israel.
authors: Shay
authors: S
authors: Sukenik
authors: Ben Gurion University of the Negev, Beer Sheva, Israel.|Genetics Institute, Soroka Medical Center, Beer Sheva, Israel.
authors: Arie
authors: A
authors: Koifman
authors: Department of OBGYN, Meir Medical Center, Kfar Saba, Israel.
authors: Yoav
authors: Y
authors: Alpert
authors: Ben Gurion University of the Negev, Beer Sheva, Israel.|Ultrasound Unit, Soroka Medical Center, Beer Sheva, Israel.
authors: Reli
authors: R
authors: Hershkovitz
authors: Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.|Department of Cardiology, Meir Medical Center, Kfar Saba, Israel.
authors: Alex
authors: A
authors: Levi
authors: Department of OBGYN, Meir Medical Center, Kfar Saba, Israel.|Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors: Tal
authors: T
authors: Biron-Shental
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D046228:Microarray Analysis / Q000379:methods*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal