Integrated analysis of comorbidity, pregnant outcomes, and amniotic fluid cytogenetics of fetuses with persistent left superior vena cava

Table 1 Clinical characteristics in the isolated persistent left superior vena cava group and the persistent left superior vena cava with other malformations group, n (%)

	Isolated PLSVC (n = 49)	PLSVC with other malformations (n = 48)	χ2	P value
Age
< 35 years old	42 (85.7)	39 (81.3)	0.35	0.55
≥ 35 years old	7 (14.3)	9 (18.7)
Number of fetuses
Singleton	43 (87.8)	44 (91.7)	0.40	0.53
Twins	6 (12.2)	4 (8.3)
Gestational age at initial diagnosis
Before 28 wk	46 (93.9)	45 (93.8)	0.001	0.97
After 28 wk	3 (6.1)	3 (6.2)
Pregnancy outcome
Persistent pregnancy	48 (98.0)	36 (75.0)	11.01	0.001
Terminated pregnancy	1 (2.0)	12 (25.0)
Amniocentesis status
No apparent abnormalities	5 (10.2)	14 (29.2)	15.33	< 0.001
Abnormal results	0 (0.0)	7 (14.6)
No amniocentesis performed	44 (89.8)	27 (56.2)

PLSVC: Persistent left superior vena cava.

Table 2 Specific types of intracardiac structural abnormalities in 97 cases of persistent left superior vena cava, n (%)

Type of intracardiac structural abnormalities	n (%)
Ventricular septal defect	7 (31.8)
Aortic coarctation	5 (22.7)
Tetralogy of Fallot	3 (13.6)
Right-sided aortic arch	3 (13.6)
Left pulmonary artery originating from the right pulmonary artery	1 (4.5)
Single atrium with complete endocardial cushion defect	1 (4.5)
Midline heart with ventricular wall hypertrophy	1 (4.5)
Absence of right superior vena cava	1 (4.5)
Total	22 (100)

Table 3 Specific types of extracardiac structural abnormalities in 97 cases of persistent left superior vena cava, n (%)

Type of extracardiac structural abnormalities	n (%)
Single umbilical artery	9 (24.3)
Persistent right umbilical vein	6 (16.2)
urinary system abnormalities	6 (16.2)
Neurological system abnormalities	3 (8.1)
Pleural effusion	2 (5.4)
Pulmonary cystadenoma	2 (5.4)
Absence of nasal bone	2 (5.4)
Gallbladder abnormalities	2 (5.4)
Situs inversus	1 (2.7)
Scoliosis	1 (2.7)
Multiple malformations	3 (8.1)
Total	37 (100)

Table 4 Analysis of pregnancy outcomes in persistent left superior vena cava with intracardiac and extracardiac abnormalities

Type	Persistent pregnancy, n (%)	OR	95%CI	P value
PLSVC only with extracardiac abnormalities	24 (92.3)
PLSVC only with intracardiac abnormalities	8 (72.7)	4.5	0.63-31.95	0.12
PLSVC with intracardiac and extracardiac abnormalities	4 (36.3)	21.0	3.16-139.67	0.001

PLSVC: Persistent left superior vena cava.

Table 5 Six cases with abnormal copy number variation sequencing results in persistent left superior vena cava

	Chromosomal location	Variation type	Fragment size	Clinical significance
1	Chromosome 15	Repetition	0.4 Mb	Potentially benign
2	Chromosome 2	Repetition	0.5 Mb	Potentially benign
3	Chromosome 11	Repetition	3.9 Mb	VUS
4	Chromosome 19	Repetition	187.4 Kb	VUS
5	Chromosome 1	Repetition	2.3 Mb	VUS
6	Chromosome 1	Repetition	> 10 Mb	Potential pathogenicity

VUS: Variants of uncertain significance.