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Table 2 Clinical information and ultrasound characteristics of 20 fetuses with 16p13.11 microdeletion/microduplication

From: 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

Case

Ultrasound characteristics

Pregnancy outcome

Outcome of live‐born

E2510

Ventricular septal defect

Cesarean

Age of 4 years, Boy, Well survivor

E2703

Ventriculomegaly, Enhanced intestinal echo

TP

-

P5107

Thickened nuchal translucency

Cesarean

Age of 3 years, Girl, Short stature, Normal mental development

R2823

Normal(High risk for Down's screening)

TP

-

R3676

Thickened nuchal translucency

Eutocia

Age of 6 months, Boy, Well survivor

E2797

Urorectal septal malformation sequence

TP

-

E3061

Mild tricuspid regurgitation

Eutocia

Age of 3 years, Girl, Well survivor

P2758

Enhanced intestinal echo

Eutocia

Age of 4 years, Boy, Well survivor

P3650

Ventriculomegaly

Eutocia

Age of 4 years, Girl, Well survivor

P5980

Normal(Balanced translocation of chromosomes in the father of the fetus)

Cesarean

Age of 3 years, Boy, Well survivor

P6436

Enhanced intestinal echo

TP

-

P8174

Right renal duplication

Eutocia

Age of 2 years, Girl, Well survivor

R358

Normal(Balanced translocation of chromosomes in pregnant women)

Eutocia

Age of 1.5 years, Girl, Well survivor

R476

Lung cystadenomatous lesions

Eutocia

Age of 1.5 years, Girl, Postnatal lung cystadenoma surgery, Everything else is normal

R857

Normal(High risk for Down's screening)

Eutocia

Age of 4 months, Boy, Well survivor

R1046

Thickened nuchal translucency

Cesarean

Age of 1.3 years, Boy, Well survivor

R1460

Normal(High risk for Down's screening)

Cesarean

Age of 1.2 years, Girl, Well survivor

R2229

Enhanced intestinal echo

Cesarean

Age of 1.1 years, Boy, Well survivor

R3115

Ventriculomegaly

Eutocia

Age of 8 months, Boy, Well survivor

R3753

Normal(advanced maternal age)

Cesarean

Age of 6 months, Boy, Well survivor

  1. TP Termination of pregnancy