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Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis
M L Kwee1, J R Lo Ten Foe, F Arwert
1Department of Clinical Genetics, University Hospital, Amsterdam, The Netherlands.
Insights
This study reports the prenatal diagnosis of Fanconi anaemia (FA) in twins at 14 weeks gestation. Both fetuses were found to be heterozygous for different FAC gene mutations, leading to a healthy birth outcome.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Hematology
Background:
- Fanconi anaemia (FA) is a rare genetic disorder causing bone marrow failure.
- Genetic counseling is crucial for families with a history of FA, particularly complementation group C (FAC).
- Accurate prenatal diagnosis aids in managing genetic risks and family planning.
Observation:
- A case involving twins diagnosed prenatally for Fanconi anaemia (FA) at 14 weeks gestation.
- The parents had a previously diagnosed son with FA (complementation group C - FAC) and a healthy son.
- Prenatal DNA analysis revealed both fetuses were heterozygous for distinct mutations within the FAC gene.
Findings:
- The FA patient identified previously was a compound heterozygote with 322delG and IVS4+4A-->T mutations in the FAC gene.
- Both fetuses demonstrated heterozygous carrier status for different FAC gene mutations.
- Karyotype analysis confirmed normal male karyotypes for both fetuses.
Implications:
- Prenatal diagnosis of FA allows for informed reproductive decisions.
- Early identification of genetic mutations in twins can guide postnatal care and monitoring.
- This case highlights the importance of advanced genetic testing in high-risk pregnancies for inherited blood disorders.
Abstract:
We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation in the FAC gene. Prenatal DNA analysis showed that both fetuses were heterozygous for different mutations in the FAC gene. Both fetuses had normal male karyotypes. At 36 weeks the twins were born. They did not show congenital anomalies.