Open Access
Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study
Author(s) -
Mone Fionnuala,
Doyle Samantha,
Ahmad Asfa,
Abu Subieh Hala,
Hamilton Susan,
Allen Stephanie,
Marton Tamas,
Williams Denise,
Kilby Mark D.
Publication year - 2021
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.1111/aogs.14036
Subject(s) - medicine , consanguineous marriage , odds ratio , obstetrics , prenatal diagnosis , pediatrics , pregnancy , retrospective cohort study , confidence interval , offspring , cohort , fetus , consanguinity , genetics , biology
Abstract Introduction Consanguineous unions occur when a couple are related outside marriage and is associated with adverse genetic and perinatal outcomes for affected offspring. The objectives of this study were to evaluate: (i) background characteristics, (ii) uptake of prenatal and postnatal investigation and (iii) diagnostic outcomes of UK consanguineous couples presenting with a fetal structural anomaly. Material and methods This was a retrospective and partly prospective cohort study comparing consanguineous (n = 62) and non‐consanguineous (n = 218) pregnancies with current or previous fetal structural anomalies reviewed in a UK prenatal genetic clinic from 2008 to 2019. Outcomes were compared using odds ratios (OR). Results Most consanguineous couples were of Pakistani ethnicity (odds ratio [OR] 29, 95% confidence interval [95% CI] 13‐62) and required use of an interpreter [OR 9, 95% CI 4‐20). In the consanguineous group, the uptake of prenatal invasive testing was lower (OR 0.4, 95% CI 0.2‐0.7) and the number declining follow up was greater (OR 10, 95% CI 3‐34) than in the non‐consanguineous group. This likely explained the lower proportion of consanguineous couples where a final definitive unifying diagnosis to explain the fetal structural anomalies was reached (OR 0.3, 95% CI 0.2‐0.6). When a diagnosis was obtained in this group, it was always postnatal and most often using genomic sequencing technologies (OR 6, 95% CI 1‐27). The risk of perinatal death was greater (OR 3, 95% CI 1‐6) in the consanguineous group, as was the risk of fetal structural anomaly recurrence in a subsequent pregnancy (OR 4, 95% CI 1‐13). There was no difference in the uptake of perinatal autopsy or termination of pregnancy between groups. Conclusions Consanguineous couples are a vulnerable group in the prenatal setting. Although adverse perinatal outcomes in this group are more common secondary to congenital anomalies, despite the evolution of genomic sequencing technologies, due to a lower uptake of prenatal testing it is less likely that a unifying diagnosis is obtained and recurrence can occur. There is a need for proactive genetic counseling and education from the multidisciplinary team, addressing language barriers as well as religious and cultural beliefs in an attempt to optimize reproductive options.