Exome-based preconception carrier testing for consanguineous couples in China.

Objective: To evaluate the utility of clinical exome sequencing (ES)-based carrier screening in Chinese consanguineous couples.

Methods: Consanguineous couples were screened for autosomal recessive (AR) disorders using the clinical ES of 5000 genes associated with human diseases.

Results: We recruited 14 couples who elected to have sequencing.

A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35 weeks. The karyotype was unusual, with 46, XY, der (6), t (6;12) (p24; p12) mat.