Table 1

 Clinical features of 16 intrahepatic cholestasis of pregnancy (ICP) cases in whom all coding exons of ATP8B1 were sequenced, and of two additional cases with the D70N variant

Case NoFamily history of ICPCyclical or OCP pruritusPreg NoICP in this pregMax ALT* (<28 U/l)Max BA (<14 μmol/l)Fetal distress (M/CTG/IUD)Gestation delivery (weeks)
C, cyclical itch; OCP, oral contraceptive pill; ALT, alanine aminotransferase; BA, bile acid; M, meconium stained liquor; CTG, cardiotocograph abnormalities; IUD, intrauterine death; Y, yes; N, no; Preg, pregnancy; −, test was not performed or the result is not available.
*For some cases ALT was not available, and the aspartate aminotransferase level is given instead. The maximum value for ALT, AST, and BA is given for each affected pregnancy in each case.
†ICP cases with the D70N mutation
‡ICP case with the R867C mutation
1NN1YN38
2Y24M, IUD40+3
3Y11846N36+6
2NC1Y243M, IUD36+5
2Y129*N38
3Y135*M, IUD38+6
4Y213*150N34+5
3NC1Y446CTG35
4YN1Y388106N38
5NN1Y116*138N38
2Y476103N38
6†NN1NN40
2Y41216N37
3NN41
7NN1Y257CTG38
2Y14731N36+2
8‡YN1Y79N37
9NN1Y5038M37
2NN40
10NC1NN38
2Y40M, CTG, IUD39
3Y27N33+5
11NN1Y249264CTG37+3
2YCTG37
12YOCP1Y353587M32
13NN1Y315M41
2Y30435CTG37
14NN1YN38
2Y11221N37
15NN1Y28324CTG38
2Y2525N36
16NC1Y655IUD38
2Y5136
Additional D70N cases
1†NN1NN40
2YM39+4
3Y215*M, IUD39
4Y108*16N35
2†NN1Y53N37