Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

Figures & data

Table 1 Abnormal CMA Detection Results Among Fetuses Presenting Echogenic Bowel on Ultrasound with Normal Karyotypes

Group	Case Number	CMA Detection Results	B-Mode Ultrasound Findings	Clinical Significance	Fragment Size (Mb)	Pregnant Outcomes
Fetal echogenic bowel alone	1	16p13.11(151,771,146–16,309,046)×3 mat	Fetal echogenic bowel	VOUS	1.1	Normal
	2	5q33.2q33.3(154,435,034–156,727,811×3 pat)	Fetal echogenic bowel	VOUS	2.29	Normal
Fetal echogenic bowel along with other ultrasound abnormality	3	10q11.1q11.22(39,058,630–48,006,310)×1 dn	Fetal growth restriction, fetal echogenic bowel	Pathogenic	8.9	Induction of labor
	4	16p13.11(14,897,401–16,534,031)×1	Fetal echogenic bowel and tricuspid regurgitation	VOUS	1.6	Normal
	5	16p13.11(15,422,960–16,508,123)×1 dn	Fetal bilateral ventricle broadening and fetal echogenic bowel	Pathogenic	1.0	Induction of labor
	6	18q21.33q22.1(60,147,532–65,974,912)×1 dn	Fetal biparietal diameter and head circumstance smaller for gestational age, high heart rate, tricuspid regurgitation and fetal echogenic bowel	VOUS	5.8	Normal
	7	9p21.1(28,552,246–30,820,392)×1	Fetal nuchal translucency of 2.7 mm, peritoneal effusion, small gastric bubble and echogenic bowel	VOUS	2.2	Induction of labor
	8	Xq28(152,713,658–153,421,838)×3dn	Fetal ventricular septal defects, tricuspid regurgitation and echogenic bowel	Pathogenic	0.708	Induction of labor
	9	16q23.2q24.3(79,800,878–90,146,366)hmz16p13.3p12.3(94,807–19,302,326)hmz	Fetal growth restriction, fetal ventricular septal defects, aortic stenosis, dysplasia or absence of the left kidney and echogenic bowel	VOUS	10.3Mbfragment at q23.2q24.3 and 19.2 Mb fragment at p13.3p12.3	Induction of labor

Abbreviations: CMA, chromosomal microarray analysis; CNVs, copy number variations; VOUS, variants of uncertain significance.

Table 2 Comparison of the Detection of the Prevalence of Abnormal CNVs Between Fetuses with Isolated Echogenic Bowel and Along with Other Ultrasound Abnormalities

Fetus Grouping	No. of Cases	Chromosome Aneuploidy	Abnormal CNVs
			Pathogenic	VOUS
Isolated fetal echogenic bowel	20	0	0	2
Echogenic bowel along with other ultrasound abnormalities	127	4	3	4
Total	147	4	3	6

Abbreviations: CNVs, copy number variations; VOUS, variants of uncertain significance.

Table 3 Prenatal Outcomes in Cases with Fetal Echogenic Bowel Diagnosed at Different Trimesters

Gestational Age	No. of Cases	No. of Cases with Chromosome Aneuploidy	Abnormal CNV		No. of Cases with Normal Pregnant Outcomes
			Pathogenic	VOUS
Second trimesters	54	1	0	1	52
Third trimester	84	3	3	5	73
Total	138	4	3	6	125

Abbreviations: CNV, copy number variation; VOUS, variants of uncertain significance.