Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

Figures & data

Table 1 Demographic, Clinical Features and Pregnant Outcomes of 7 Fetuses with Chromosomal Abnormalities

Group	Patient Number	Age (Years)	Gestational Age (Weeks)	Ultrasound Findings	Karyotype	CMA Findings	Clinical Significance	Pregnant Outcome
B	1	26	28	Suspected fetal ventricular septal defect, and left-ventricular echogenic focus	Normal	arr[hg19]16p13.11(14,897,401–16,534,031)×1	16p13.11microdeletion, and presence of incomplete penetrance. The clinical phenotype may include cognitive dysfunction and developmental retardation	Normal delivery (7 months)
	2	36	24	Smaller fetal biparietal diameter and head circumference for the gestational age, increased heart rate, left-ventricular echogenic focus, tricuspid regurgitation and local echogenic bowel	Normal	arr[hg19]18q21.33q22.1(60,147,532–65,974,912)×1	VOUS	Normal delivery
	3	34	24	Fetal left- and right-ventricular echogenic focus,mitral regurgitation and tricuspid regurgitation	Normal	arr[hg19]Xp22.33 or Yp11.32 (168,551–629,999or 118,551–579,999)×1	Definite pathogenicity, and development of microsomia at difference degrees, short forearm and arched radius	No delivery
C	4	25	24	Maternal mental retardation, fetal left- and right-ventricular echogenic focus and separation of right renal sinus	Normal	arr[hg19]6p21.32p21.31(32,965,747–35,234,269)x3	VOUS	Induction of labor
	5	28	24	Fetal nasal bone hypoplasia,biparietal diameter and head circumferenceshorter for less than 2 standard deviationsof the gestational age, left-ventricular echogenic focus, normal non-invasive prenatal testing, and risk ratio of 1:378 by serological screening	Normal	arr[hg19]Xq21.33 (95,227,256–95,972,695) ×3	VOUS	Normal delivery (16 months)
	6	32	25	Fetal growth restriction, and left-ventricular echogenic focus	Normal	arr[hg19]22q11.21(18,512,066–19,004,772)×3	VOUS	Induction of labor

Table 2 Detection of CNVs in Fetuses with Diverse Ultrasound Findings

Group	Total Number	No. of Fetus with CNVs	Pathogenic CNVs	VOUS
A	8	0	‒	‒
B	75	4	3	1
C	109	7	4	3
Total	192	11	7	4

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