Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

Table 1

Clinical information of recruited SD pregnancies.

Subject	Maternal age (years)	Gestational weeks	Clinical information^※	Fetal sample origin
Family 1	31	16	G5P2A1: 2 daughters with normal phenotype; 2 singleton pregnancies with limb shortening	Umbilical cord tissue
Family 2	31	22	G1P0: limb shortening	Umbilical cord blood
Family 3	29	16	G3P0A2: 2 miscarriages; 1 SD pregnancy diagnosed at 13 gestational weeks after IVF-ET	Umbilical cord tissue
Family 4	31	22	G2P0: 1 induced abortion; 1 pregnancy with thick NT(0.30cm at 12 weeks), micrognathia, ulnar and osteogenic dysplasia, abnormal hand shape	Umbilical cord blood
Family 5	38	16	G2P1: 1 daughter with normal phenotype; 1 pregnancy with limb shortening	Umbilical cord tissue
Family 6	28	23	G1P0: osteogenic dysplasia at 22 gestational weeks	Umbilical cord tissue
Family 7	24	23	G3P0A1: 1 miscarriage; 2 pregnancies with thick NT and femur shortening	Umbilical cord tissue
Family 8	36	29	G3P1; 1 daughter with normal phenotype; 1 pregnancy with osteogenic dysplasia and angled left femur at 23 gestational weeks	Umbilical cord tissue

G: gravida; P: para; A: abortus; IVF-ET: In Vitro Fertilization-Embryo Transfer.