Tomaiuolo et al. Retrospective case 149 couples who underwent Inclusion: Fetal DNA was only tested for 1/181: PND not possible due to (2013) series pre-test counselling for CF parental mutations, as the insufficient DNA in sample: Couples referred for molecular underwent 181 prenatal CFTR genotype of all couples Southern Italy Level: IV diagnostics for CF because of CF –ve: 38 diagnoses. 11 couples did not was known. being at high risk of giving birth Quality: 13/18 Carriers: 98 have PND due to miscarriage, to a child affected by CF CF +ve: 42, 41 TOP disagreeing with PND, too between January 1993 and Twins (1 CF +ve, 1 carrier): 1 difficult to make a decision December 2012 (selective TOP) about termination, and mild mutations in 1 of the parents Twins (1 carrier, 1 CF –ve): 1 (risk of a child with a disorder) Indications: Affected child: 148 Cascade screening: 28 Consanguinity: 1 Preconceptional screen: 2 Echogenic bowel: 1 Screening for IVF: 1 CF = cystic fibrosis; CFTR = cystic fibrosis transmembrane conductance regulator; CFTR-RD = CFTR related disorder CVS = chorionic villus sampling; DNA = deoxyribonucleic acid; FEB = fetal echogenic bowel; GP = general practitioner; PND = prenatal diagnosis; IVF = in-vitro fertilisation; TOP = termination of pregnancy
Tomaiuolo et al. (2013) Southern Italy Retrospective case series Level: IV Quality: 13/18 149 couples who underwent pre-test counselling for CF underwent 181 prenatal diagnoses. 11 couples did not have PND due to miscarriage, disagreeing with PND, too difficult to make a decision about termination, and mild mutations in 1 of the parents (risk of a child with a disorder) Indications: Affected child: 148 Cascade screening: 28 Consanguinity: 1 Preconceptional screen: 2 Echogenic bowel: 1 Screening for IVF: 1 Inclusion: Couples referred for molecular diagnostics for CF because of being at high risk of giving birth to a child affected by CF between January 1993 and December 2012 Fetal DNA was only tested for parental mutations, as the CFTR genotype of all couples was known. 1/181: PND not possible due to insufficient DNA in sample: CF –ve: 38 Carriers: 98 CF +ve: 42, 41 TOP Twins (1 CF +ve, 1 carrier): 1 (selective TOP) Twins (1 carrier, 1 CF –ve): 1 CF = cystic fibrosis; CFTR = cystic fibrosis transmembrane conductance regulator; CFTR-RD = CFTR related disorder CVS = chorionic villus sampling; DNA = deoxyribonucleic acid; FEB = fetal echogenic bowel; GP = general practitioner; PND = prenatal diagnosis; IVF = in-vitro fertilisation; TOP = termination of pregnancy
1216-MSAC-CA-CFTR.docx