Table 2.

Prenatal findings in isolated 17p13.3 duplications

Patient #	Indication	Prenatal US	CVS/AMNIO	Inheritance	Comments
6	Routine	dilated renal pelves	Not done	Not tested	Diagnosis in infancy
4a1	Recurrence dup 17p13, MA	Not available	CVS microarray dup 17p13.3	Both parents normal; two affected sibs	Germline mosaicism in one parent; fetus terminated
10	Routine	Probable ACC; VMEG; oligo at 33 weeks	Amnio karyotype 46, XY	Not tested	Diagnosis in infancy
11a1	Routine	SUA; renal anomalies	Amnio karyotype 46, XY, microarray dup 17p13.3	Maternal mosaicism 72%	Unilateral multi-cystic dysplastic kidney
14	MA, abnormal AFP	None	Amnio karyotype 46, XX	Not tested	Diagnosis at 2.5 years
16	Routine 1st trimester	Nuchal trans-lucency 7.5 mm	Not done	Not tested	Diagnosis at 2 years
20a1	Routine	Probable IVH, resolved before birth	Not done	Not tested	Diagnosis at 4 years
21a1	Routine 2nd trimester	VMEG, CP cysts, endocardial fibroelastosis	Amnio micoarray 17p13.3 dup	Maternal	Terminated with no autopsy; previous SB with hydrops

Abbreviations: ACC, agenesis of the corpus callosum; AFP, alpha-fetoprotein; Amnio, amniocentesis; CP, choroid plexus; CVS, chorionic villus sample; dup, duplication; IVH, intraventricular hemorrhage; MA, maternal age; oligo, oligohydramnios; SB, stillbirth; SUA, single umbilical artery; US, ultrasound; VMEG, ventriculomegaly.