Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Table 1 Previously reported and present patients with thrombocytopenia–absent radius syndrome ascertained by prenatal diagnosis

Characteristic	Patients																			Total
Reference	[9]	[10]	[11]	[12]		[13]	[14]	[15]		[16]	[17]	[18]		[19]	[20]	[21]	[22]		Present	Total
Patient identification by ref.				A	B			1	2			2	3				4	12
Previously affected child	+	+	+	+	+							+	+							6/11
Maternal age (years)	28	29	25	35	35	18		30	30	33	22			21	33	36			31
Gestational age (weeks)	20	19	17	19	19	32	23	25	32	18	38	18	13	MP	16	13	13	13	21
Sex			F	M	F	M	M	F	F	M	F	F	F	M			F	F	M	9F, 5M
IUGR	+					+			+											3/12
Thrombocytopenia						+	-	+¹	+	+²		+		-	+					6/8
Upper limbs anomalies	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	19/19
Humeral hypo/aplasia						+	+												+	3/3
Short forearms			+					+¹											+	3/3
Radial hypo/aplasia	+	+			+	+	+	+	+	+		+	+	+	+	+	+	+	+	16/16
Ulnar hypo/aplasia	+	+				+	+					+				+			+	7/7
Club hands		+		+	+			+		+		+	+		+	+			+	10/10
Lower limbs anomalies						+	+			-								+		4/5
Other features			CH	OH					AH, R, VM						PH		CH		Py, VM

¹: observed at 32 weeks. ²: obsterved at 37 weeks.
IUGR intrauterine growth restriction, bil bilateral, A aplasia, Ab spontaneous abortion, AH aortic hypoplasia, CH cystic hygroma, H hypoplasia, OH oligohydramnios, MP mid-pregnancy, PH polyhydramnios, Py pyelectasis, RD renal dysplasia, ToP termination of pregnancy, VM ventriculomegaly.

ISSN: 1756-0500