Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

J Assist Reprod Genet. 2017 Jan;34(1):43-50. doi: 10.1007/s10815-016-0821-2. Epub 2016 Oct 28.

Abstract

Purpose: The purpose of the study is to evaluate the correlation between ultrasound findings and abnormal karyotypes in early pregnancy losses (EPLs) after in vitro fertilization-embryo transfer (IVF-ET).

Methods: This retrospective analysis assessed 2172 cases of EPL after IVF-ET occurring between January 2008 and December 2013. The cases were examined via transvaginal ultrasonography (TVS). Embryonic tissue karyotyping following miscarriage was performed using a comparative genomic hybridization (CGH) analysis with fluorescence in situ hybridization (FISH). The correlations between the ultrasound findings and the karyotypes were evaluated.

Results: Six categories of ultrasound findings were observed: normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth. The overall rate of abnormal karyotypes was 44.9 % (976/2172), and the rate of abnormal karyotypes associated with a normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth was 49.5 % (218/440), 28.1 % (138/491), 43.4 % (197/454), 50.0 % (43/86), 49.8 % (155/311), and 57.7 % (225/390), respectively. Compared with the other groups, the prevalence of chromosomal abnormalities was significantly higher in the early symmetrical arrested growth group but was markedly lower in the empty sac group in all cases and when cases of 46,XX were excluded (p < 0.05). Trisomy 16 was the most common chromosomal abnormality in the yolk sac only, small embryonic pole and early symmetrical arrested growth groups. In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality.

Conclusions: Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET.

Keywords: Early pregnancy loss; In vitro fertilization-embryo transfer; Karyotype; Transvaginal ultrasonography; Ultrasound findings.

MeSH terms

  • Abnormal Karyotype
  • Abortion, Spontaneous / diagnostic imaging
  • Abortion, Spontaneous / genetics*
  • Abortion, Spontaneous / pathology
  • Adult
  • Chromosome Aberrations
  • Comparative Genomic Hybridization
  • Embryo Transfer / adverse effects*
  • Female
  • Fertilization in Vitro / adverse effects*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Pregnancy
  • Pregnancy Trimester, First
  • Ultrasonography, Prenatal*